Author: "Dumont, Martine" - Searchworks@Jio Institute Digital Library Search Results

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1. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author: Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques
Published: 2023
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2. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author: Barnes, Daniel R, Rookus, Matti A, McGuffog, Lesley, Leslie, Goska, Mooij, Thea M, Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M, Blok, Marinus J, Bonanni, Bernardo, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Bradbury, Angela R, Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K, Claes, Kathleen BM, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dorfling, Cecilia M, Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans BL, Hooning, Maartje J, Horvath, Judit, Hu, Chunling, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kast, Karin, Koudijs, Marco, Kruse, Torben A, Kwong, Ava, Laitman, Yael, Lasset, Christine, and Lazaro, Conxi
Subjects: Clinical Research, Cancer, Ovarian Cancer, Prevention, Rare Diseases, Breast Cancer, 2.1 Biological and endogenous factors, Aetiology, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Carcinoma, Ovarian Epithelial, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Mutation, Ovarian Neoplasms, Prospective Studies, Retrospective Studies, Risk Factors, BRCA1, 2, breast cancer, ovarian cancer, PRS, genetics, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators, Consortium of Investigators of Modifiers of BRCA and BRCA2, BRCA1/2, Genetics, Clinical Sciences, Genetics & Heredity
Abstract: PurposeWe assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers.MethodsRetrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort.ResultsThe ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10-12) carriers. The associations in the prospective cohort were similar.ConclusionPopulation-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
Published: 2020

3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Author: Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Allen, Jamie, Kar, Siddhartha, Pooley, Karen A, Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemaçon, Audrey, Lush, Michael, Tyrer, Jonathan P, Ghoussaini, Maya, Moradi Marjaneh, Mahdi, Jiang, Xia, Agata, Simona, Aittomäki, Kristiina, Alonso, M Rosario, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auber, Bernd, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Amie M, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Camp, Nicola J, Campbell, Ian, Canzian, Federico, Carroll, Jason S, Carter, Brian D, Castelao, Jose E, Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stéphane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Floris, Giuseppe, and Flyger, Henrik
Subjects: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Bayes Theorem, Risk Factors, Chromosome Mapping, Regulatory Sequences, Nucleic Acid, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Female, Genome-Wide Association Study, Biomarkers, Tumor, Genetic Testing, Prevention, Genetics, Cancer, Breast Cancer, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract: Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
Published: 2020

4. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author: Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques
Published: 2023
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5. Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.

Author: Shu, Xiang, Wu, Lang, Khankari, Nikhil K, Shu, Xiao-Ou, Wang, Thomas J, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Pharoah, Paul DP, Andrulis, Irene L, Hunter, David J, Simard, Jacques, Easton, Douglas F, Zheng, Wei, Alicia, Beeghly-Fadiel J, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Barrdahl, Myrto, Baynes, Caroline, Beane Freeman, Laura E, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldés, Trinidad, Canzian, Federico, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, David Cheng, Ting-Yuan, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, David G, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Doheny, Kimberly F, Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Dwek, Miriam, Earp, H Shelton, Eccles, Diana M, Heather Eliassen, A, Engel, Christoph, Eriksson, Mikael, Gareth Evans, D, Fachal, Laura, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, Gaudet, Mia M, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, He, Wei, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hogervorst, Frans B, Hollestelle, Antoinette, and Hoover, Robert N
Subjects: Clinical Research, Diabetes, Prevention, Nutrition, Obesity, Cancer, Aging, Breast Cancer, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Adult, Aged, Blood Glucose, Body Mass Index, Breast Neoplasms, Diabetes Mellitus, Type 2, Female, Humans, Insulin, Mendelian Randomization Analysis, Middle Aged, Obesity, Abdominal, Waist-Hip Ratio, Breast cancer, insulin, glucose, obesity, genetics, Mendelian randomization analysis, Breast Cancer Association Consortium, Statistics, Public Health and Health Services, Epidemiology
Abstract: BackgroundIn addition to the established association between general obesity and breast cancer risk, central obesity and circulating fasting insulin and glucose have been linked to the development of this common malignancy. Findings from previous studies, however, have been inconsistent, and the nature of the associations is unclear.MethodsWe conducted Mendelian randomization analyses to evaluate the association of breast cancer risk, using genetic instruments, with fasting insulin, fasting glucose, 2-h glucose, body mass index (BMI) and BMI-adjusted waist-hip-ratio (WHRadj BMI). We first confirmed the association of these instruments with type 2 diabetes risk in a large diabetes genome-wide association study consortium. We then investigated their associations with breast cancer risk using individual-level data obtained from 98 842 cases and 83 464 controls of European descent in the Breast Cancer Association Consortium.ResultsAll sets of instruments were associated with risk of type 2 diabetes. Associations with breast cancer risk were found for genetically predicted fasting insulin [odds ratio (OR) = 1.71 per standard deviation (SD) increase, 95% confidence interval (CI) = 1.26-2.31, p = 5.09 × 10-4], 2-h glucose (OR = 1.80 per SD increase, 95% CI = 1.3 0-2.49, p = 4.02 × 10-4), BMI (OR = 0.70 per 5-unit increase, 95% CI = 0.65-0.76, p = 5.05 × 10-19) and WHRadj BMI (OR = 0.85, 95% CI = 0.79-0.91, p = 9.22 × 10-6). Stratified analyses showed that genetically predicted fasting insulin was more closely related to risk of estrogen-receptor [ER]-positive cancer, whereas the associations with instruments of 2-h glucose, BMI and WHRadj BMI were consistent regardless of age, menopausal status, estrogen receptor status and family history of breast cancer.ConclusionsWe confirmed the previously reported inverse association of genetically predicted BMI with breast cancer risk, and showed a positive association of genetically predicted fasting insulin and 2-h glucose and an inverse association of WHRadj BMI with breast cancer risk. Our study suggests that genetically determined obesity and glucose/insulin-related traits have an important role in the aetiology of breast cancer.
Published: 2019

6. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Author: Mavaddat, Nasim, Michailidou, Kyriaki, Dennis, Joe, Lush, Michael, Fachal, Laura, Lee, Andrew, Tyrer, Jonathan P, Chen, Ting-Huei, Wang, Qin, Bolla, Manjeet K, Yang, Xin, Adank, Muriel A, Ahearn, Thomas, Aittomäki, Kristiina, Allen, Jamie, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Auvinen, Päivi, Barrdahl, Myrto, Beane Freeman, Laura E, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brenner, Hermann, Brentnall, Adam, Brock, Ian W, Brooks-Wilson, Angela, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Campa, Daniele, Carter, Brian D, Castelao, Jose E, Chanock, Stephen J, Chlebowski, Rowan, Christiansen, Hans, Clarke, Christine L, Collée, J Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Försti, Asta, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Georgoulias, Vassilios, Giles, Graham G, Gilyazova, Irina R, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grenaker Alnæs, Grethe I, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, and Hankinson, Susan E
Subjects: ABCTB Investigators, kConFab/AOCS Investigators, NBCS Collaborators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Receptors, Estrogen, Medical History Taking, Risk Assessment, Reproducibility of Results, Age Factors, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, breast, cancer, epidemiology, genetic, polygenic, prediction, risk, score, screening, stratification, Human Genome, Cancer, Genetics, Clinical Research, Prevention, Breast Cancer, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Published: 2019

7. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Author: Wu, Lang, Shi, Wei, Long, Jirong, Guo, Xingyi, Michailidou, Kyriaki, Beesley, Jonathan, Bolla, Manjeet K, Shu, Xiao-Ou, Lu, Yingchang, Cai, Qiuyin, Al-Ejeh, Fares, Rozali, Esdy, Wang, Qin, Dennis, Joe, Li, Bingshan, Zeng, Chenjie, Feng, Helian, Gusev, Alexander, Barfield, Richard T, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y, Burwinkel, Barbara, Caldés, Trinidad, Canzian, Federico, Carter, Brian D, Castelao, J Esteban, Chang-Claude, Jenny, Chen, Xiaoqing, Cheng, Ting-Yuan David, Christiansen, Hans, Clarke, Christine L, NBCS Collaborators, Collée, Margriet, Cornelissen, Sten, Couch, Fergus J, Cox, David, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Doheny, Kimberly F, Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Eccles, Diana M, Eilber, Ursula, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, Gaudet, Mia M, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hollestelle, Antoinette, Hoover, Robert N, Hopper, John L, and Huang, Guanmengqian
Subjects: Biological Sciences, Genetics, Human Genome, Biotechnology, Prevention, Breast Cancer, Women's Health, Cancer Genomics, Cancer, 2.1 Biological and endogenous factors, Generic health relevance, Breast Neoplasms, Case-Control Studies, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Risk, Transcriptome, NBCS Collaborators, kConFab/AOCS Investigators, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. Of the 8,597 genes evaluated, significant associations were identified for 48 at a Bonferroni-corrected threshold of P
Published: 2018

8. Association analysis identifies 65 new breast cancer risk loci

Author: Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K, Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D, Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E, Ghoussaini, Maya, Carroll, Jason S, Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A, Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Arun, Banu, Auer, Paul L, Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W, Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D, Castelao, Jose E, Chan, Tsun L, David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L, Collée, Margriet, Conroy, Don M, Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Doheny, Kimberly F, Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Elvira, Mingajeva, and Engel, Christoph
Subjects: Cancer, Asia, Asian People, Binding Sites, Breast Neoplasms, Computer Simulation, Europe, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Regulatory Sequences, Nucleic Acid, Risk Assessment, Transcription Factors, White People, NBCS Collaborators, ABCTB Investigators, ConFab/AOCS Investigators, General Science & Technology
Abstract: Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P
Published: 2017

9. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Author: Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J, Li, Qiyuan, Delgado, Melissa K, Lee, Janet M, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Bandera, Elisa V, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Matthias W, Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S, Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen BM, GEMO Study Collaborators, Cook, Linda S, Cox, Angela, Cramer, Daniel W, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, EMBRACE, Engel, Christoph, Lee, Eunjung, Evans, D Gareth, Fasching, Peter A, Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D, Fridley, Brooke L, Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A, Garber, Judy, García-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G, Glasspool, Rosalind, Godwin, Andrew K, Goldberg, Mark S, and Goldgar, David E
Subjects: GEMO Study Collaborators, EMBRACE, Hereditary Breast and Ovarian Cancer Research Group Netherlands, KConFab Investigators, Australian Ovarian Cancer Study Group, Chromosomes, Human, Pair 19, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, RNA, Messenger, Genotype, Polymorphism, Single Nucleotide, Alleles, African Continental Ancestry Group, Asian Continental Ancestry Group, Female, Genome-Wide Association Study, Chromosomes, Human, Pair 19, RNA, Messenger, Polymorphism, Single Nucleotide, Prevention, Breast Cancer, Ovarian Cancer, Cancer, Rare Diseases, Genetics, 2.1 Biological and endogenous factors
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P
Published: 2016

10. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.

Author: Guo, Yan, Warren Andersen, Shaneda, Shu, Xiao-Ou, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Garcia-Closas, Montserrat, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Dunning, Allison, Bojesen, Stig E, Ahsan, Habibul, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bogdanova, Natalia V, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Casey, Graham, Chenevix-Trench, Georgia, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dumont, Martine, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Gammon, Marilie, Giles, Graham G, Guénel, Pascal, Haiman, Christopher A, Hamann, Ute, Hooning, Maartje J, Hopper, John L, Jakubowska, Anna, Jasmine, Farzana, Jenkins, Mark, John, Esther M, Johnson, Nichola, Jones, Michael E, Kabisch, Maria, Kibriya, Muhammad, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela, Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lindblom, Annika, Luben, Robert, Lubinski, Jan, Malone, Kathi E, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Olson, Janet E, Perez, Jose IA, Perkins, Barbara, Peterlongo, Paolo, Phillips, Kelly-Anne, Pylkäs, Katri, Rudolph, Anja, Santella, Regina, Sawyer, Elinor J, Schmutzler, Rita K, Seynaeve, Caroline, Shah, Mitul, Shrubsole, Martha J, Southey, Melissa C, Swerdlow, Anthony J, Toland, Amanda E, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Ursin, Giske, Van Der Luijt, Rob B, and Verhoef, Senno
Subjects: Humans, Breast Neoplasms, Genetic Predisposition to Disease, Body Mass Index, Models, Statistical, Risk Factors, Menopause, Polymorphism, Single Nucleotide, Middle Aged, European Continental Ancestry Group, Female, Mendelian Randomization Analysis, Models, Statistical, Polymorphism, Single Nucleotide, Genetics, Prevention, Breast Cancer, Nutrition, Clinical Research, Cancer, Aging, Human Genome, 2.1 Biological and endogenous factors, General & Internal Medicine, Medical and Health Sciences
Abstract: BackgroundObservational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.MethodsWe applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC) (cases = 46,325, controls = 42,482). We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively.ResultsIn the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR] = 0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56-0.75, p = 3.32 × 10-10). The associations were similar for both premenopausal (OR = 0.44, 95% CI:0.31-0.62, p = 9.91 × 10-8) and postmenopausal breast cancer (OR = 0.57, 95% CI: 0.46-0.71, p = 1.88 × 10-8). This association was replicated in the data from the DRIVE consortium (OR = 0.72, 95% CI: 0.60-0.84, p = 1.64 × 10-7). Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs) in association with breast cancer risk at p
Published: 2016

11. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Author: Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, BÃ¸rge G, Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L, Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, DÃ¶rk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H, Van Den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y, Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J, van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B, Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E, Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, and Orr, Nick
Published: 2016

12. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Author: Zeng, Chenjie, Guo, Xingyi, Long, Jirong, Kuchenbaecker, Karoline B, Droit, Arnaud, Michailidou, Kyriaki, Ghoussaini, Maya, Kar, Siddhartha, Freeman, Adam, Hopper, John L, Milne, Roger L, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Agata, Simona, Ahmed, Shahana, AittomÃ¤ki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arason, Adalgeir, Arndt, Volker, Arun, Banu K, Arver, Brita, Bacot, Francois, Barrowdale, Daniel, Baynes, Caroline, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William J, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brand, Judith S, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, BrÃ¼ning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Carpenter, Jane, Chang-Claude, Jenny, Choi, Ji-Yeob, Claes, Kathleen B. M, Clarke, Christine, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, De Leeneer, Kim, Devilee, Peter, Diez, Orland, Domchek, Susan M, Doody, Michele, Dorfling, Cecilia M, DÃ¶rk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Dworniczak, Bernd, Egan, Kathleen, Eilber, Ursula, Einbeigi, Zakaria, Ejlertsen, Bent, Ellis, Steve, Frost, Debra, Lalloo, Fiona, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Friedlander, Michael, Friedman, Eitan, Gambino, Gaetana, Gao, Yu-Tang, Garber, Judy, GarcÃa-Closas, Montserrat, Gehrig, Andrea, Damiola, Francesca, Lesueur, Fabienne, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Giles, Graham G, Godwin, Andrew K, Goldgar, David E, GonzÃ¡lez-Neira, Anna, Greene, Mark H, GuÃ©nel, Pascal, Haeberle, Lothar, Haiman, Christopher A, Hallberg, Emily, Hamann, Ute, and Hansen, Thomas V. O
Published: 2016

13. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.

Author: Arndt, Volker, Beckmann, Matthias, Beeghly-Fadiel, Alicia, Benitez, Javier, Blomqvist, Carl, Bogdanova, Natalia, Børresen-Dale, Anne-Lise, Brand, Judith, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Cai, Qiuyin, Casey, Graham, Chenevix-Trench, Georgia, Couch, Fergus, Cox, Angela, Cross, Simon, Czene, Kamila, Dörk, Thilo, Dumont, Martine, Fasching, Peter, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Gammon, Marilie, Giles, Graham, Guénel, Pascal, Haiman, Christopher, Hamann, Ute, Harrington, Patricia, Hartman, Mikael, Hooning, Maartje, Hopper, John, Jakubowska, Anna, Jasmine, Farzana, John, Esther, Johnson, Nichola, Kabisch, Maria, Khan, Sofia, Kibriya, Muhammad, Knight, Julia, Kosma, Veli-Matti, Kriege, Mieke, Kristensen, Vessela, Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Luben, Robert, Lubinski, Jan, Malone, Kathleen, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Miao, Hui, Muir, Kenneth, Neuhausen, Susan, Nevanlinna, Heli, Neven, Patrick, Olson, Janet, Perkins, Barbara, Peterlongo, Paolo, Phillips, Kelly-Anne, Pylkäs, Katri, Rudolph, Anja, Santella, Regina, Sawyer, Elinor, Schmutzler, Rita, Schoemaker, Minouk, Shah, Mitul, Shrubsole, Martha, Southey, Melissa, Swerdlow, Anthony, Toland, Amanda, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Ursin, Giske, Van Der Luijt, Rob, Verhoef, Senno, Wang-Gohrke, Shan, Whittemore, Alice, Winqvist, Robert, Pilar Zamora, M, Zhao, Hui, Dunning, Alison, Simard, Jacques, Hall, Per, Kraft, Peter, Pharoah, Paul, Hunter, David, Easton, Douglas, and Zheng, Wei
Subjects: Breast cancer, Epidemiology, GWAS, Genetic susceptibility, Type 2 diabetes, Breast Neoplasms, Case-Control Studies, Diabetes Mellitus, Type 2, Ethnicity, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, White People
Abstract: PURPOSE: Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. METHODS: We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. RESULTS: The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p < 0.001), rs9939609 (FTO) (OR 0.94, 95 % CI = 0.92-0.95, p = 4.13E-13), rs7903146 (TCF7L2) (OR 1.04, 95 % CI = 1.02-1.06, p = 1.26E-05), and rs8042680 (PRC1) (OR 0.97, 95 % CI = 0.95-0.99, p = 8.05E-04). CONCLUSIONS: We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk.
Published: 2016

14. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

Author: Zhao, Zhiguo, Wen, Wanqing, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Zhang, Ben, Long, Jirong, Shu, Xiao-Ou, Schmidt, Marjanka K, Milne, Roger L, García-Closas, Montserrat, Chang-Claude, Jenny, Lindstrom, Sara, Bojesen, Stig E, Ahsan, Habibul, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Blomqvist, Carl, Bogdanova, Natalia V, Børresen-Dale, Anne-Lise, Brand, Judith, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Cai, Qiuyin, Casey, Graham, Chenevix-Trench, Georgia, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dörk, Thilo, Dumont, Martine, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Gammon, Marilie, Giles, Graham G, Guénel, Pascal, Haiman, Christopher A, Hamann, Ute, Harrington, Patricia, Hartman, Mikael, Hooning, Maartje J, Hopper, John L, Jakubowska, Anna, Jasmine, Farzana, John, Esther M, Johnson, Nichola, Kabisch, Maria, Khan, Sofia, Kibriya, Muhammad, Knight, Julia A, Kosma, Veli-Matti, Kriege, Mieke, Kristensen, Vessela, Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Luben, Robert, Lubinski, Jan, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Miao, Hui, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Olson, Janet E, Perkins, Barbara, Peterlongo, Paolo, Phillips, Kelly-Anne, Pylkäs, Katri, Rudolph, Anja, Santella, Regina, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, Minouk, Shah, Mitul, Shrubsole, Martha, Southey, Melissa C, Swerdlow, Anthony J, Toland, Amanda E, and Tomlinson, Ian
Subjects: Genetics, Breast Cancer, Prevention, Diabetes, Aging, Cancer, Clinical Research, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Case-Control Studies, Diabetes Mellitus, Type 2, Ethnicity, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, White People, Type 2 diabetes, Genetic susceptibility, GWAS, Breast cancer, Epidemiology, Oncology and Carcinogenesis, Public Health and Health Services
Abstract: PurposeType 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors.MethodsWe constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies.ResultsThe T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p < 0.001), rs9939609 (FTO) (OR 0.94, 95 % CI = 0.92-0.95, p = 4.13E-13), rs7903146 (TCF7L2) (OR 1.04, 95 % CI = 1.02-1.06, p = 1.26E-05), and rs8042680 (PRC1) (OR 0.97, 95 % CI = 0.95-0.99, p = 8.05E-04).ConclusionsWe have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk.
Published: 2016

15. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, Hollestelle, Antoinette, van der Baan, Frederieke H, Berchuck, Andrew, Johnatty, Sharon E, Aben, Katja K, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Antoniou, Antonis C, Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K, Arver, Brita, Ashworth, Alan, Group, Australian Ovarian Cancer Study, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V, Barrowdale, Daniel, Bean, Yukie T, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brand, Judith S, Brauch, Hiltrud, Register, Breast Cancer Family, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Collée, J Margriet, Cook, Linda S, Couch, Fergus J, Cox, Angela, Cramer, Daniel, Cross, Simon S, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M, Diez, Orland, Doherty, Jennifer A, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos Santos Silva, Isabel, du Bois, Andreas, Dumont, Martine, Dunning, Alison M, Duran, Mercedes, Easton, Douglas F, Eccles, Diana, Edwards, Robert P, Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve D, EMBRACE, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Feliubadalo, Lidia, Figueroa, Jonine, and Flesch-Janys, Dieter
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Prevention, Breast Cancer, Clinical Trials and Supportive Activities, Genetic Testing, Ovarian Cancer, Women's Health, Rare Diseases, Cancer, Genetics, 2.1 Biological and endogenous factors, Breast Neoplasms, Carcinoma, Ovarian Epithelial, Female, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Proto-Oncogene Proteins p21(ras), KRAS variant, Breast cancer, Ovarian cancer, Genetic association, Clinical outcome, Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Australian Ovarian Cancer Study Group, Breast Cancer Family Register, EMBRACE, GEMO Study Collaborators, GENICA Network, HEBON, KConFab Investigators, SWE-BRCA, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis, Reproductive medicine
Abstract: ObjectiveClinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370.MethodsCentralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers).ResultsWe found no association with risk of ovarian cancer (OR=0.99, 95% CI 0.94-1.04, p=0.74) or breast cancer (OR=0.98, 95% CI 0.94-1.01, p=0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR=1.09, 95% CI 0.97-1.23, p=0.14, breast cancer HR=1.04, 95% CI 0.97-1.12, p=0.27; BRCA2, ovarian cancer HR=0.89, 95% CI 0.71-1.13, p=0.34, breast cancer HR=1.06, 95% CI 0.94-1.19, p=0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR=0.94, 95% CI 0.83-1.07, p=0.38), breast cancer (HR=0.96, 95% CI 0.87-1.06, p=0.38), and all other previously-reported associations.Conclusionsrs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
Published: 2016

16. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen BM, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas VO, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, and Herzog, Josef
Subjects: Chromosomes, Human, Pair 2, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Cyclophilins, tRNA Methyltransferases, BRCA1 Protein, Receptors, Estrogen, Risk Factors, Genotype, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Female, Genome-Wide Association Study, Chromosomes, Human, Pair 2, Receptors, Estrogen, Polymorphism, Single Nucleotide, Breast Cancer, Cancer, Prevention, Genetics, Human Genome, 2.1 Biological and endogenous factors
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P
Published: 2016

17. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Author: Vigorito, Elena, Kuchenbaecker, Karoline B, Beesley, Jonathan, Adlard, Julian, Agnarsson, Bjarni A, Andrulis, Irene L, Arun, Banu K, Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Chan, Salina B, Claes, Kathleen BM, Cohn, David E, Cook, Jackie, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, Pauw, Antoine de, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana, Edwinsdotter Ardnor, Christina, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D Gareth, Feliubadalo, Lidia, Fostira, Florentia, Foulkes, William D, Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Giraud, Sophie, Godwin, Andrew K, Goldgar, David E, Hake, Christopher R, Hansen, Thomas VO, Healey, Sue, Hodgson, Shirley, Hogervorst, Frans BL, Houdayer, Claude, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Karlan, Beth Y, Kast, Karin, KConFab Investigators, Khan, Sofia, Kwong, Ava, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lubinski, Jan, Mai, Phuong L, Manoukian, Siranoush, Mazoyer, Sylvie, Meindl, Alfons, Mensenkamp, Arjen R, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde, Peissel, Bernard, and Peterlongo, Paolo
Subjects: KConFab Investigators, Chromosomes, Human, Pair 9, Humans, Ovarian Neoplasms, Genetic Predisposition to Disease, Chromosome Mapping, Polymorphism, Single Nucleotide, Genes, BRCA1, Genes, BRCA2, Female, Genetic Carrier Screening, General Science & Technology
Abstract: Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
Published: 2016

18. RAD51B in Familial Breast Cancer.

Author: Pelttari, Liisa M, Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I, Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V, Figueroa, Jonine, Pharoah, Paul DP, Schmidt, Marjanka K, Dunning, Alison M, García-Closas, Montserrat, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L, Southey, Melissa C, Rosenberg, Efraim H, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Surowy, Harald, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, Børge G, Benitez, Javier, González-Neira, Anna, Neuhausen, Susan L, Anton-Culver, Hoda, Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Brüning, Thomas, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Hartikainen, Jaana M, Chenevix-Trench, Georgia, kConFab/AOCS Investigators, Van Dyck, Laurien, Janssen, Hilde, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Hallberg, Emily, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Schumacher, Fredrick, Simard, Jacques, Dumont, Martine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Grip, Mervi, Andrulis, Irene L, Glendon, Gord, Devilee, Peter, Seynaeve, Caroline, Hooning, Maartje J, Collée, Margriet, Cox, Angela, Cross, Simon S, Shah, Mitul, Luben, Robert N, Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Couch, Fergus J, Yannoukakos, Drakoulis, Orr, Nick, Swerdlow, Anthony, Darabi, Hatef, Li, Jingmei, Czene, Kamila, Hall, Per, Easton, Douglas F, Mattson, Johanna, Blomqvist, Carl, Aittomäki, Kristiina, and Nevanlinna, Heli
Subjects: kConFab/AOCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, DNA-Binding Proteins, Haplotypes, Heterozygote, Mutation, Missense, Polymorphism, Single Nucleotide, Middle Aged, Finland, Female, Male, Genotyping Techniques, General Science & Technology
Abstract: Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
Published: 2016

19. Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Author: Li, Na, Zethoven, Magnus, McInerny, Simone, Devereux, Lisa, Huang, Yu-Kuan, Thio, Niko, Cheasley, Dane, Gutiérrez-Enríquez, Sara, Moles-Fernández, Alejandro, Diez, Orland, Nguyen-Dumont, Tu, Southey, Melissa C., Hopper, John L., Simard, Jacques, Dumont, Martine, Soucy, Penny, Meindl, Alfons, Schmutzler, Rita, Schmidt, Marjanka K., Adank, Muriel A., Andrulis, Irene L., Hahnen, Eric, Engel, Christoph, Lesueur, Fabienne, Girard, Elodie, Neuhausen, Susan L., Ziv, Elad, Allen, Jamie, Easton, Douglas F., Scott, Rodney J., Gorringe, Kylie L., James, Paul A., and Campbell, Ian G.
Published: 2021
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20. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Author: Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John, Southey, Melissa, Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka, Broeks, Annegien, Vant Veer, Laura, Hogervorst, Frans, Fasching, Peter, Haeberle, Lothar, Ekici, Arif, Beckmann, Matthias, Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig, Nordestgaard, Børge, Nielsen, Sune, Flyger, Henrik, Benitez, Javier, Zamora, Maria, Arias Perez, Jose, Menéndez, Primitiva, Neuhausen, Susan, Brenner, Hermann, Dieffenbach, Aida, Arndt, Volker, Stegmaier, Christa, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Bogdanova, Natalia, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chenevix-Trench, Georgia, Beesley, Jonathan, Lambrechts, Diether, Moisse, Matthieu, Floris, Guiseppe, Beuselinck, Benoit, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Pensotti, Valeria, Couch, Fergus, Olson, Janet, Slettedahl, Seth, Vachon, Celine, Giles, Graham, Milne, Roger, McLean, Catriona, Haiman, Christopher, Henderson, Brian, Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark, Labrèche, France, Dumont, Martine, Kristensen, Vessela, Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Zheng, Wei, and Deming-Halverson, Sandra
Subjects: Adult, Aged, Asian People, Breast Neoplasms, Chromosome Mapping, Chromosomes, Human, Pair 9, Enhancer Elements, Genetic, Estrogen Receptor alpha, Female, GATA3 Transcription Factor, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 3-alpha, Humans, Kruppel-Like Factor 4, Kruppel-Like Transcription Factors, Middle Aged, Polymorphism, Single Nucleotide, Risk, White People
Abstract: We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88-0.92]; P-value = 1.58 × 10(-25)). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08-1.17]; P-value = 7.89 × 10(-09)) and rs13294895 (OR = 1.09 [1.06-1.12]; P-value = 2.97 × 10(-11)). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06-1.18]; P-value = 2.77 × 10(-05)). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.
Published: 2015

21. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Author: Milne, Roger, Burwinkel, Barbara, Michailidou, Kyriaki, Arias-Perez, Jose-Ignacio, Zamora, M, Menéndez-Rodríguez, Primitiva, Hardisson, David, Mendiola, Marta, González-Neira, Anna, Pita, Guillermo, Alonso, M, Dennis, Joe, Wang, Qin, Bolla, Manjeet, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk, Ko, Yon-Dschun, Brauch, Hiltrud, Hamann, Ute, Andrulis, Irene, Knight, Julia, Glendon, Gord, Tchatchou, Sandrine, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Li, Jingmei, Brand, Judith, Brenner, Hermann, Dieffenbach, Aida, Arndt, Volker, Stegmaier, Christa, Lambrechts, Diether, Peuteman, Gilian, Christiaens, Marie-Rose, Smeets, Ann, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katazyna, Hartman, Mikael, Hui, Miao, Yen Lim, Wei, Wan Chan, Ching, Marme, Federick, Yang, Rongxi, Bugert, Peter, Lindblom, Annika, Margolin, Sara, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Figueroa, Jonine, Bojesen, Stig, Nordestgaard, Børge, Flyger, Henrik, Hooning, Maartje, Kriege, Mieke, van den Ouweland, Ans, Koppert, Linetta, Fletcher, Olivia, Johnson, Nichola, dos-Santos-Silva, Isabel, Peto, Julian, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Cox, Angela, Cross, Simon, Reed, Malcolm, Schmidt, Marjanka, Broeks, Annegien, Cornelissen, Sten, Braaf, Linde, Kang, Daehee, Choi, Ji-Yeob, Park, Sue, Noh, Dong-Young, Simard, Jacques, Dumont, Martine, Goldberg, Mark, Labrèche, France, Fasching, Peter, Hein, Alexander, Ekici, Arif, Beckmann, Matthias, Radice, Paolo, and Peterlongo, Paolo
Subjects: A Kinase Anchor Proteins, Adult, Alleles, Ataxin-7, Breast Neoplasms, Case-Control Studies, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Middle Aged, NIMA-Related Kinases, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases
Abstract: Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2.9 × 10(-6)], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 × 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 × 10(-17)). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for ATXN7-K264R, OR = 1.07 (95% CI = 1.05-1.10, P = 1.0 × 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 × 10(-10)). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.
Published: 2014

22. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

Author: Purrington, Kristen, Slettedahl, Seth, Bolla, Manjeet, Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig, Andrulis, Irene, Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher, Fasching, Peter, Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guénel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomäki, Kristiina, Blomqvist, Carl, Nordestgaard, Børge, Nielsen, Sune, Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet, Mulligan, Anna, Knight, Julia, Tchatchou, Sandrine, Reed, Malcolm, Cross, Simon, Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian, Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif, Hartmann, Arndt, Beckmann, Matthias, Hartikainen, Jaana, Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkäs, Katri, Kauppila, Saila, Dieffenbach, Aida, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose, Pilar Zamora, M, Menéndez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Truong, Thérèse, Bugert, Peter, Toland, Amanda, Ambrosone, Christine, Labrèche, France, Goldberg, Mark, Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian, Apicella, Carmel, Southey, Melissa, Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Tollenaar, Robert, Seynaeve, Caroline, Brüning, Thomas, Ko, Yon-Dschun, Van Deurzen, Carolien, Martens, John, and Kriege, Mieke
Subjects: Breast Neoplasms, Carrier Proteins, Case-Control Studies, Female, Genetic Variation, Haplotypes, Humans, Neoplasm Staging, Polymorphism, Single Nucleotide, Receptor, Fibroblast Growth Factor, Type 2, Risk Factors, Tumor Suppressor Proteins
Abstract: Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candidate gene studies have reported associations between variation in mitotic genes and breast cancer risk. We measured associations between 2156 single nucleotide polymorphisms (SNPs) from 194 mitotic genes and breast cancer risk, overall and by histologic grade, in the Breast Cancer Association Consortium (BCAC) iCOGS study (n = 39 067 cases; n = 42 106 controls). SNPs in TACC2 [rs17550038: odds ratio (OR) = 1.24, 95% confidence interval (CI) 1.16-1.33, P = 4.2 × 10(-10)) and EIF3H (rs799890: OR = 1.07, 95% CI 1.04-1.11, P = 8.7 × 10(-6)) were significantly associated with risk of low-grade breast cancer. The TACC2 signal was retained (rs17550038: OR = 1.15, 95% CI 1.07-1.23, P = 7.9 × 10(-5)) after adjustment for breast cancer risk SNPs in the nearby FGFR2 gene, suggesting that TACC2 is a novel, independent genome-wide significant genetic risk locus for low-grade breast cancer. While no SNPs were individually associated with high-grade disease, a pathway-level gene set analysis showed that variation across the 194 mitotic genes was associated with high-grade breast cancer risk (P = 2.1 × 10(-3)). These observations will provide insight into the contribution of mitotic defects to histological grade and the etiology of breast cancer.
Published: 2014

23. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.

Author: Milne, Roger, Herranz, Jesús, Michailidou, Kyriaki, Dennis, Joe, Tyrer, Jonathan, Zamora, M, Arias-Perez, José, González-Neira, Anna, Pita, Guillermo, Alonso, M, Wang, Qin, Bolla, Manjeet, Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Li, Jingmei, Orr, Nicholas, Schoemaker, Minouk, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Andrulis, Irene, Knight, Julia, Glendon, Gord, Mulligan, Anna, Bojesen, Stig, Nordestgaard, Børge, Flyger, Henrik, Nevanlinna, Heli, Muranen, Taru, Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Wang, Xianshu, Olson, Janet, Vachon, Celine, Purrington, Kristen, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Dunning, Alison, Shah, Mitul, Guénel, Pascal, Truong, Thérèse, Sanchez, Marie, Mulot, Claire, Brenner, Hermann, Dieffenbach, Aida, Arndt, Volker, Stegmaier, Christa, Lindblom, Annika, Margolin, Sara, Hooning, Maartje, Hollestelle, Antoinette, Collée, J, Jager, Agnes, Cox, Angela, Brock, Ian, Reed, Malcolm, Devilee, Peter, Tollenaar, Robert, Seynaeve, Caroline, Haiman, Christopher, Henderson, Brian, Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Dumont, Martine, Soucy, Penny, Dörk, Thilo, Bogdanova, Natalia, Hamann, Ute, Försti, Asta, Rüdiger, Thomas, Ulmer, Hans-Ulrich, Fasching, Peter, Häberle, Lothar, Ekici, Arif, Beckmann, Matthias, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Mariani, Paolo, Giles, Graham, Severi, Gianluca, Baglietto, Laura, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, and Miller, Nicola
Subjects: Breast Neoplasms, Case-Control Studies, Epistasis, Genetic, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide
Abstract: Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P < 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P < 10(-4)) were selected for more careful assessment by logistic regression. Under the first approach, 3277 SNPs were preselected, but an evaluation of all possible two-SNP combinations (1 d.f.) identified no interactions at P < 10(-8). Results from the second analytic approach were consistent with those from the first (P > 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.
Published: 2014

24. Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

Author: Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark, Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Dos Santos Silva, Isabel, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa, Hopper, John, Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter, Jud, Sebastian, Ekici, Arif, Beckmann, Matthias, Kerin, Michael, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig, Nordestgaard, Børge, Nielsen, Sune, Flyger, Henrik, Milne, Roger, Perez, Jose, Menéndez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita, Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham, Severi, Gianluca, Baglietto, Laura, McLean, Catriona, Haiman, Christopher, Henderson, Brian, Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark, Labrèche, France, Dumont, Martine, Kristensen, Vessela, and Winqvist, Robert
Subjects: Breast Neoplasms, Carcinoma in Situ, Carcinoma, Lobular, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Middle Aged, Polymorphism, Single Nucleotide
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P
Published: 2014

25. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

Author: Milne, Roger L, Herranz, Jesús, Michailidou, Kyriaki, Dennis, Joe, Tyrer, Jonathan P, Zamora, M Pilar, Arias-Perez, José Ignacio, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Wang, Qin, Bolla, Manjeet K, Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Li, Jingmei, Anton-Culver, Hoda, Neuhausen, Susan L, Ziogas, Argyrios, Clarke, Christina A, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Chenevix-Trench, Georgia, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Wang, Xianshu, Olson, Janet E, Vachon, Celine, Purrington, Kristen, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Dunning, Alison M, Shah, Mitul, Guénel, Pascal, Truong, Thérèse, Sanchez, Marie, Mulot, Claire, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J, Hollestelle, Antoinette, Collée, J Margriet, Jager, Agnes, Cox, Angela, Brock, Ian W, Reed, Malcolm WR, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Dumont, Martine, Soucy, Penny, Dörk, Thilo, Bogdanova, Natalia V, Hamann, Ute, Försti, Asta, Rüdiger, Thomas, Ulmer, Hans-Ulrich, Fasching, Peter A, Häberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, and Peto, Julian
Subjects: Breast Cancer, Human Genome, Genetics, Cancer, Prevention, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Case-Control Studies, Epistasis, Genetic, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA Network, TNBCC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract: Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P < 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P < 10(-4)) were selected for more careful assessment by logistic regression. Under the first approach, 3277 SNPs were preselected, but an evaluation of all possible two-SNP combinations (1 d.f.) identified no interactions at P < 10(-8). Results from the second analytic approach were consistent with those from the first (P > 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.
Published: 2014

26. Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions

Author: Schoeps, Anja, Rudolph, Anja, Seibold, Petra, Dunning, Alison M, Milne, Roger L, Bojesen, Stig E, Swerdlow, Anthony, Andrulis, Irene, Brenner, Hermann, Behrens, Sabine, Orr, Nicholas, Jones, Michael, Ashworth, Alan, Li, Jingmei, Cramp, Helen, Connley, Dan, Czene, Kamila, Darabi, Hatef, Chanock, Stephen J, Lissowska, Jolanta, Figueroa, Jonine D, Knight, Julia, Glendon, Gord, Mulligan, Anna M, Dumont, Martine, Severi, Gianluca, Baglietto, Laura, Olson, Janet, Vachon, Celine, Purrington, Kristen, Moisse, Matthieu, Neven, Patrick, Wildiers, Hans, Spurdle, Amanda, Kosma, Veli‐Matti, Kataja, Vesa, Hartikainen, Jaana M, Hamann, Ute, Ko, Yon‐Dschun, Dieffenbach, Aida K, Arndt, Volker, Stegmaier, Christa, Malats, Núria, Perez, José I Arias, Benítez, Javier, Flyger, Henrik, Nordestgaard, Børge G, Truong, Thérèse, Cordina‐Duverger, Emilie, Menegaux, Florence, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Häberle, Lothar, Beckmann, Matthias W, Ekici, Arif B, Braaf, Linde, Atsma, Femke, Broek, Alexandra J den, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Cox, Angela, Simard, Jacques, Giles, Graham G, Lambrechts, Diether, Mannermaa, Arto, Brauch, Hiltrud, Guénel, Pascal, Peto, Julian, Fasching, Peter A, Hopper, John, Flesch‐Janys, Dieter, Couch, Fergus, Chenevix‐Trench, Georgia, Pharoah, Paul DP, Garcia‐Closas, Montserrat, Schmidt, Marjanka K, Hall, Per, Easton, Douglas F, and Chang‐Claude, Jenny
Subjects: Biological Sciences, Genetics, Epidemiology, Health Services and Systems, Health Sciences, Genetic Testing, Human Genome, Prevention, Breast Cancer, Aging, Clinical Research, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Body Height, Body Mass Index, Breast Neoplasms, Chromosomes, Human, Pair 21, Chromosomes, Human, Pair 6, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Menarche, Middle Aged, Parity, Polymorphism, Single Nucleotide, Postmenopause, White People, breast cancer risk, gene-environment interaction, polymorphisms, body mass index, case-control study, Public Health and Health Services
Abstract: Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association analysis. By using methods accounting for gene-environment (G × E) interaction, we aimed to identify novel genetic loci associated with breast cancer risk. Up to 34,475 cases and 34,786 controls of European ancestry from up to 23 studies in the Breast Cancer Association Consortium were included. Overall, 71,527 single nucleotide polymorphisms (SNPs), enriched for association with breast cancer, were tested for interaction with 10 environmental risk factors using three recently proposed hybrid methods and a joint test of association and interaction. Analyses were adjusted for age, study, population stratification, and confounding factors as applicable. Three SNPs in two independent loci showed statistically significant association: SNPs rs10483028 and rs2242714 in perfect linkage disequilibrium on chromosome 21 and rs12197388 in ARID1B on chromosome 6. While rs12197388 was identified using the joint test with parity and with age at menarche (P-values = 3 × 10(-07)), the variants on chromosome 21 q22.12, which showed interaction with adult body mass index (BMI) in 8,891 postmenopausal women, were identified by all methods applied. SNP rs10483028 was associated with breast cancer in women with a BMI below 25 kg/m(2) (OR = 1.26, 95% CI 1.15-1.38) but not in women with a BMI of 30 kg/m(2) or higher (OR = 0.89, 95% CI 0.72-1.11, P for interaction = 3.2 × 10(-05)). Our findings confirm comparable power of the recent methods for detecting G × E interaction and the utility of using G × E interaction analyses to identify new susceptibility loci.
Published: 2014

27. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author: Mavaddat, Nasim, primary, Barrowdale, Daniel, primary, Andrulis, Irene L., primary, Domchek, Susan M., primary, Eccles, Diana, primary, Nevanlinna, Heli, primary, Ramus, Susan J., primary, Spurdle, Amanda, primary, Robson, Mark, primary, Sherman, Mark, primary, Mulligan, Anna Marie, primary, Couch, Fergus J., primary, Engel, Christoph, primary, McGuffog, Lesley, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Southey, Melissa C., primary, Terry, Mary Beth, primary, Goldgar, David, primary, O'Malley, Frances, primary, John, Esther M., primary, Janavicius, Ramunas, primary, Tihomirova, Laima, primary, Hansen, Thomas V. O., primary, Nielsen, Finn C., primary, Osorio, Ana, primary, Stavropoulou, Alexandra, primary, Benítez, Javier, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Barile, Monica, primary, Volorio, Sara, primary, Pasini, Barbara, primary, Dolcetti, Riccardo, primary, Putignano, Anna Laura, primary, Ottini, Laura, primary, Radice, Paolo, primary, Hamann, Ute, primary, Rashid, Muhammad U., primary, Hogervorst, Frans B., primary, Kriege, Mieke, primary, van der Luijt, Rob B., primary, Peock, Susan, primary, Frost, Debra, primary, Evans, D. Gareth, primary, Brewer, Carole, primary, Walker, Lisa, primary, Rogers, Mark T., primary, Side, Lucy E., primary, Houghton, Catherine, primary, Weaver, JoEllen, primary, Godwin, Andrew K., primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Meindl, Alfons, primary, Kast, Karin, primary, Arnold, Norbert, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Doroteha, primary, Preisler-Adams, Sabine, primary, Varon-Mateeva, Raymonda, primary, Schönbuchner, Ines, primary, Gevensleben, Heidrun, primary, Stoppa-Lyonnet, Dominique, primary, Belotti, Muriel, primary, Barjhoux, Laure, primary, Isaacs, Claudine, primary, Peshkin, Beth N., primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Cañadas, Carmen, primary, Heikkinen, Tuomas, primary, Heikkilä, Päivi, primary, Aittomäki, Kristiina, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Agnarsson, Bjarni A., primary, Arason, Adalgeir, primary, Barkardottir, Rosa B., primary, Dumont, Martine, primary, Simard, Jacques, primary, Montagna, Marco, primary, Agata, Simona, primary, D'Andrea, Emma, primary, Yan, Max, primary, Fox, Stephen, primary, Rebbeck, Timothy R., primary, Rubinstein, Wendy, primary, Tung, Nadine, primary, Garber, Judy E., primary, Wang, Xianshu, primary, Fredericksen, Zachary, primary, Pankratz, Vernon S., primary, Lindor, Noralane M., primary, Szabo, Csilla, primary, Offit, Kenneth, primary, Sakr, Rita, primary, Gaudet, Mia M., primary, Singer, Christian F., primary, Tea, Muy-Kheng, primary, Rappaport, Christine, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Sokolenko, Anna, primary, Imyanitov, Evgeny, primary, Toland, Amanda Ewart, primary, Senter, Leigha, primary, Sweet, Kevin, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Kruse, Torben, primary, Caligo, Maria, primary, Aretini, Paolo, primary, Rantala, Johanna, primary, von Wachenfeld, Anna, primary, Henriksson, Karin, primary, Steele, Linda, primary, Neuhausen, Susan L., primary, Nussbaum, Robert, primary, Beattie, Mary, primary, Odunsi, Kunle, primary, Sucheston, Lara, primary, Gayther, Simon A., primary, Nathanson, Kate, primary, Gross, Jenny, primary, Walsh, Christine, primary, Karlan, Beth, primary, Chenevix-Trench, Georgia, primary, Easton, Douglas F., primary, and Antoniou, Antonis C., primary
Published: 2023
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28. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, Antoinette, van der Baan, Frederieke H., Berchuck, Andrew, Johnatty, Sharon E., Aben, Katja K., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Antoniou, Antonis C., Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K., Arver, Brita, Ashworth, Alan, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Barrowdale, Daniel, Bean, Yukie T., Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H., Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M., Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Silva, Isabel Dos Santos, du Bois, Andreas, Dumont, Martine, Dunning, Alison M., Duran, Mercedes, Easton, Douglas F., Eccles, Diana, Edwards, Robert P., Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve D., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Fontaine, Annette, Fortuzzi, Stefano, Fostira, Florentia, Fridley, Brooke L., Friebel, Tara, Friedman, Eitan, Friel, Grace, Frost, Debra, Garber, Judy, García-Closas, Montserrat, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Gore, Martin, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Gschwantler Kaulich, Daphne, Guénel, Pascal, Guzman, Starr R., Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Halverson, Sandra L., Hamann, Ute, Hansen, Thomas V.O., Harter, Philipp, Hartikainen, Jaana M., Healey, Sue, Hein, Alexander, Heitz, Florian, Henderson, Brian E., Herzog, Josef, T Hildebrandt, Michelle A., Høgdall, Claus K., Høgdall, Estrid, Hogervorst, Frans B.L., Hopper, John L., Humphreys, Keith, Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska, Katarzyna, Jensen, Allan, Jensen, Uffe Birk, Johnson, Nichola, Jukkola-Vuorinen, Arja, Kabisch, Maria, Karlan, Beth Y., Kataja, Vesa, Kauff, Noah, Kelemen, Linda E., Kerin, Michael J., Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Knol-Bout, Jacoba P., Konstantopoulou, Irene, Kosma, Veli-Matti, Krakstad, Camilla, Kristensen, Vessela, Kuchenbaecker, Karoline B., Kupryjanczyk, Jolanta, Laitman, Yael, Lambrechts, Diether, Lambrechts, Sandrina, Larson, Melissa C., Lasa, Adriana, Laurent-Puig, Pierre, Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Liang, Dong, Lindblom, Annika, Lindor, Noralane, Lissowska, Jolanta, Long, Jirong, Lu, Karen H., Lubinski, Jan, Lundvall, Lene, Lurie, Galina, Mai, Phuong L., Mannermaa, Arto, Margolin, Sara, Mariette, Frederique, Marme, Frederik, Martens, John W.M., Massuger, Leon F.A.G., Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McGuire, Valerie, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menegaux, Florence, Menéndez, Primitiva, Menkiszak, Janusz, Menon, Usha, Mensenkamp, Arjen R., Miller, Nicola, Milne, Roger L., Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Müller, Heiko, Mulligan, Anna Marie, Muranen, Taru A., Narod, Steven A., Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nielsen, Sune F., Nordestgaard, Børge G., Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Oosterwijk, Jan C., Orlow, Irene, Orr, Nick, Orsulic, Sandra, Osorio, Ana, Ottini, Laura, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peissel, Bernard, Pejovic, Tanja, Pelttari, Liisa M., Perkins, Jo, Permuth-Wey, Jenny, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Platte, Radka, Plisiecka-Halasa, Joanna, Poole, Elizabeth M., Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rebbeck, Timothy R., Reed, Malcolm W.R., Rennert, Gad, Risch, Harvey A., Robson, Mark, Rodriguez, Gustavo C., Romero, Atocha, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo, Salani, Ritu, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schrauder, Michael G., Schumacher, Fredrick, Schwaab, Ira, Scuvera, Giulietta, Sellers, Thomas A., Severi, Gianluca, Seynaeve, Caroline M., Shah, Mitul, Shrubsole, Martha, Siddiqui, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Smeets, Dominiek, Sohn, Christof, Soller, Maria, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sucheston, Lara, Swerdlow, Anthony, Tangen, Ingvild L., Tea, Muy-Kheng, Teixeira, Manuel R., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Tollenaar, Rob A.E.M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tsimiklis, Helen, Tung, Nadine, Tworoger, Shelley S., Tyrer, Jonathan P., Vachon, Celine M., Van 't Veer, Laura J., van Altena, Anne M., Van Asperen, C.J., van den Berg, David, van den Ouweland, Ans M.W., van Doorn, Helena C., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vergote, Ignace, Verhoef, Senno, Vierkant, Robert A., Vijai, Joseph, Vitonis, Allison F., von Wachenfeldt, Anna, Walsh, Christine, Wang, Qin, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weischer, Maren, Weitzel, Jeffrey N., Weltens, Caroline, Wentzensen, Nicolas, Whittemore, Alice S., Wilkens, Lynne R., Winqvist, Robert, Wu, Anna H., Wu, Xifeng, Yang, Hannah P., Zaffaroni, Daniela, Pilar Zamora, M., Zheng, Wei, Ziogas, Argyrios, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Rookus, Matti A., Hooning, Maartje J., and Goode, Ellen L.
Published: 2016
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29. Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry

Author: Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A, Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet GEM, Berutti, Riccardo, Bolla, Manjeet K, Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R, Dunning, Alison M, Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina RR, Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Horváth, Judit, Ikram, M Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John WM, Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul DP, Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M, Sutter, Christian, Thiele, Holger, Van Asperen, Christi J, Van Der Kolk, Lizet, Van Der Luijt, Rob B, Volk, Alexander E, Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard HF, Genome Of The Netherlands Project, Ghs Study Group, Devilee, Peter, Tavtigian, Sean, Bader, Gary D, Meindl, Alfons, Goldgar, David E, Andrulis, Irene L, Schmutzler, Rita K, Easton, Douglas F, Schmidt, Marjanka K, Hahnen, Eric, Simard, Jacques, Dumont, Martine [0000-0002-5488-4839], Ernst, Corinna [0000-0001-7756-8815], Lemaçon, Audrey [0000-0002-1817-7029], Allen, Jamie [0000-0002-8677-2225], Ausems, Margreet GEM [0000-0003-0305-3477], Bull, Shelley [0000-0002-3280-7154], Engel, Christoph [0000-0002-7247-282X], Green, Jessica [0000-0002-7005-2928], Hollestelle, Antoinette [0000-0003-1166-1966], Kaulfuß, Silke [0000-0003-2577-9711], Kuang, Da [0000-0003-3554-0464], Martens, John WM [0000-0002-3428-3366], Nürnberg, Peter [0000-0002-7228-428X], Ott, Claus-Eric [0000-0003-3627-3791], Peters, Annette [0000-0001-6645-0985], Ramirez, Alfredo [0000-0003-4991-763X], Wagner, Michael [0000-0003-2589-6440], Weber, Bernhard HF [0000-0002-8808-7723], Devilee, Peter [0000-0002-8023-2009], Bader, Gary D [0000-0003-0185-8861], Andrulis, Irene L [0000-0002-4226-6435], Schmidt, Marjanka K [0000-0002-2228-429X], Simard, Jacques [0000-0001-6906-3390], Apollo - University of Cambridge Repository, Human genetics, CCA - Cancer biology and immunology, Clinical Genetics, Medical Oncology, and Epidemiology
Subjects: breast cancer, genetic susceptibility, whole-exome sequencing, moderate-penetrance genes, Cancer Research, SDG 3 - Good Health and Well-being, Oncology, Breast Cancer, Genetic Susceptibility, Whole-exome Sequencing, Moderate-penetrance Genes, Article, ddc:610, Technology Platforms, ddc
Abstract: Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is unknown; more extensive sequencing efforts could potentially identify new moderate-penetrance breast cancer risk alleles. The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. We identified 20 novel genes with modest evidence of association (p-value < 0.05) for either overall or subtype-specific breast cancer; however, much larger studies are needed to confirm the exact role of these genes in susceptibility to breast cancer. Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, explain only a fraction of the familial aggregation of the disease. To identify further susceptibility genes, we performed a two-stage whole-exome sequencing study. In the discovery stage, samples from 1528 breast cancer cases enriched for breast cancer susceptibility and 3733 geographically matched unaffected controls were sequenced. Using five different filtering and gene prioritization strategies, 198 genes were selected for further validation. These genes, and a panel of 32 known or suspected breast cancer susceptibility genes, were assessed in a validation set of 6211 cases and 6019 controls for their association with risk of breast cancer overall, and by estrogen receptor (ER) disease subtypes, using gene burden tests applied to loss-of-function and rare missense variants. Twenty genes showed nominal evidence of association (p-value < 0.05) with either overall or subtype-specific breast cancer. Our study had the statistical power to detect susceptibility genes with effect sizes similar to ATM, CHEK2, and PALB2, however, it was underpowered to identify genes in which susceptibility variants are rarer or confer smaller effect sizes. Larger sample sizes would be required in order to identify such genes.
Published: 2022

30. Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Author: Wilcox, Naomi, primary, Dumont, Martine, additional, González-Neira, Anna, additional, Carvalho, Sara, additional, Beauparlant, Charles Joly, additional, Crotti, Marco, additional, Luccarini, Craig, additional, Soucy, Penny, additional, Dubois, Stéphane, additional, Nuñez-Torres, Rocio, additional, Pita, Guillermo, additional, Alonso, M. Rosario, additional, Álvarez, Nuria, additional, Baynes, Caroline, additional, Becker, Heiko, additional, Behrens, Sabine, additional, Bolla, Manjeet K., additional, Castelao, Jose E., additional, Chang-Claude, Jenny, additional, Cornelissen, Sten, additional, Dennis, Joe, additional, Dörk, Thilo, additional, Engel, Christoph, additional, Gago-Dominguez, Manuela, additional, Guenel, Pascal, additional, Hadjisavvas, Andreas, additional, Hahnen, Eric, additional, Hartman, Mikael, additional, Herráez, Belén, additional, Investigators, SGBCC, additional, Jung, Audrey, additional, Keeman, Renske, additional, Kiechle, Marion, additional, Li, Jingmei, additional, Loizidou, Maria A., additional, Lush, Michael, additional, Michailidou, Kyriaki, additional, Panayiotidis, Mihalis I., additional, Sim, Xueling, additional, Teo, Soo Hwang, additional, Tyrer, Jonathan P., additional, van der Kolk, Lizet E., additional, Wahlstrom, Cecilia, additional, Wang, Qin, additional, Benitez, Javier, additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Pharoah, Paul, additional, Droit, Arnaud, additional, Dunning, Alison M, additional, Kvist, Anders, additional, Devilee, Peter, additional, Easton, Douglas F., additional, and Simard, Jacques, additional
Published: 2022
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31. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Author: Zhang, Ben, Shu, Xiao-Ou, Delahanty, Ryan J., Zeng, Chenjie, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Wen, Wanqing, Long, Jirong, Li, Chun, Dunning, Alison M., Chang-Claude, Jenny, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, Floris, Giuseppe, Schmidt, Marjanka K., Rookus, Matti A., van den Hurk, Katja, de Kort, Wim L. A. M., Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Li, Jingmei, Humphreys, Keith, Brand, Judith, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Benitez, Javier, Zamora, M. Pilar, Perez, Jose I. A., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Chenevix-Trench, Georgia, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Collée, J. Margriet, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony J., Ashworth, Alan, Orr, Nick, Jones, Michael, Figueroa, Jonine, Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Radice, Paolo, Bogdanova, Natalia, Antonenkova, Natalia, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubiński, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Torres, Diana, Schmutzler, Rita K., Neuhausen, Susan L., Anton-Culver, Hoda, Kristensen, Vessela N., Grenaker Alnæs, Grethe I., Pierce, Brandon L., Kraft, Peter, Peters, Ulrike, Lindstrom, Sara, Seminara, Daniela, Burgess, Stephen, Ahsan, Habibul, Whittemore, Alice S., John, Esther M., Gammon, Marilie D., Malone, Kathleen E., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Hunter, David J., Easton, Douglas F., and Zheng, Wei
Published: 2015
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32. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author: Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, van Limbergen, Erik, Kristensen, Vessela, Grenaker Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schürmann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Marie Mulligan, Anna, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Karina Dieffenbach, Aida, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Annie Perkins, Katherine, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat
Published: 2015
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33. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Author: Kabisch, Maria, Lorenzo Bermejo, Justo, Dünnebier, Thomas, Ying, Shibo, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Peeters, Stephanie, Weltens, Caroline, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Johnson, Nichola, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Hogervorst, Frans B.L., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marmé, Frederik, Yang, Rongxi, Bugert, Peter, González-Neira, Anna, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose I., Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Hollestelle, Antoinette, Kriege, Mieke, Koppert, Linetta B., Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slettedahl, Seth, Toland, Amanda E., Vachon, Celine, Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida K., Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk J., Swerdlow, Anthony, García-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Radice, Paolo, Peterlongo, Paolo, Scuvera, Giulietta, Fortuzzi, Stefano, Bogdanova, Natalia, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Zheng, Wei, Shrubsole, Martha J., Cai, Qiuyin, Torres, Diana, Anton-Culver, Hoda, Kristensen, Vessela, Bacot, François, Tessier, Daniel C., Vincent, Daniel, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Simard, Jacques, Chenevix-Trench, Georgia, Hall, Per, Pharoah, Paul D.P., Dunning, Alison M., Easton, Douglas F., and Hamann, Ute
Published: 2015
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34. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Vanʼt Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marmé, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van Den Ouweland, Ans M.W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D.P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela
Published: 2015
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35. Paternal age and sperm DNA decay: discrepancy between chromomycin and aniline blue staining

Author: Belloc, Stéphanie, Benkhalifa, Moncef, Junca, Anne Marie, Dumont, Martine, Bacrie, Paul Cohen, and Ménézo, Yves
Published: 2009
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36. RAD51 135G C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

Author: Antoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Leone, Melanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valerie, Bignon, Yves-Jean, Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, and Godwin, Andrew
Subjects: Breast cancer -- Genetic aspects, Breast cancer -- Risk factors, Mutation (Biology) -- Research, Polymerase chain reaction -- Usage, Biological sciences
Abstract: The article examines RAD51 135 G C polymorphism (rs1801320) with breast cancer risk among BRCA2 female mutation carriers from 19 studies. RAD51 gene is found to be reliable as a modifier of risk among BRCA2 mutation carriers.
Published: 2007

37. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author: Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, and Antoniou, Antonis C.
Abstract: Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
Published: 2020

38. Influence of the angiotensin-converting enzyme gene insertion/deletion polymorphism on lipoprotein/lipid response to gemfibrozil

Author: Brochu, Martin., Bossé, Yohan, Dumont, Martine, Prud'homme, Denis, Vohl, Marie-Claude, Després, Jean-Pierre, Bergeron, Jean, Brochu, Martin., Bossé, Yohan, Dumont, Martine, Prud'homme, Denis, Vohl, Marie-Claude, Després, Jean-Pierre, and Bergeron, Jean
Abstract: Evidence suggests that fibrate therapy reduces the risk of recurrent coronary heart disease among men with low levels of high density lipoprotein cholesterol (HDL-C). Indirect observations and new possible biological pathways suggest that the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism might modulate the lipoprotein/lipid profile and its response to fibrate therapy. To assess the possible interaction between fibrate therapy and such variants on plasma lipid and lipoprotein levels, 65 dyslipidemic abdominally obese men were treated for 6 months with or without gemfibrozil (600 mg twice daily). No differences in baseline plasma lipid and lipoprotein levels were found between genotype groups except for the HDL(3)-C subfraction, which was higher in the DD group (p = 0.02). A two-way factorial ANOVA was used to evaluate the effect of the genotype (DD homozygotes vs I allele carriers), the treatment (placebo vs gemfibrozil), and the interaction between these two independent variables on changes observed in lipid and lipoprotein concentrations. A significant genotype-by-treatment interaction (p = 0.02) was found for the plasma HDL-C response to the intervention program. In fact, having the DD genotype and being treated with gemfibrozil had a synergical effect on HDL-C levels. The results of this study suggest that the ACE I/D polymorphism influences the effect of gemfibrozil on plasma HDL-C levels.
Published: 2020

39. Scale-free dynamics of the synchronization between sleep EEG power bands and the high frequency component of heart rate variability in normal men and patients with sleep apnea–hypopnea syndrome

Author: Dumont, Martine, Jurysta, Fabrice, Lanquart, Jean-Pol, Noseda, André, van de Borne, Philippe, and Linkowski, Paul
Published: 2007
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40. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

Author: Vézina, Hélène, Durocher, Francine, Dumont, Martine, Houde, Louis, Szabo, Csilla, Tranchant, Martine, Chiquette, Jocelyne, Plante, Marie, Laframboise, Rachel, Lépine, Jean, Nevanlinna, Heli, Stoppa-Lyonnet, Dominique, Goldgar, David, Bridge, Peter, Simard, Jacques, BCLC Haplotype Group, and INHERIT BRCAs
Published: 2005
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41. Genomic organization and expression of the mouse Brca2 gene

Author: Callens, Nathalie, Dumont, Martine, Begue, Agnès, Lint, Carine, Baert, Jean-Luc, Simard, Jacques, and Launoit, Yvan
Published: 2002
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42. Liste des auteurs

Author: Elodie, Adda-Herzog, Louise, Adjiman, Naouel, Ahdad-Yata, Sylvia, Alvarez, Jean-Marie, Antoine, Christophe, Arnoult, Paul, Atlan, Jean-Marc, Ayoubi, Paul, Barrière, Alexandre, Bellucci, Achraf, Benammar, Marion, Bendayan, Moncef, Benkhalifa, Valérie, Bernard, Florence, Boitrelle, Corrine, Bordonné, Philippe, Bouchard, Yasmine, Boumerdassi, Charlotte, Bourdin, Mathilde, Bourdon, Rosalie, Cabry, Perrine, Capmas, Marie, Carbonnel, Isabelle, Cedrin-Durnerin, Charles, Chapron, Ahmed, Chargui, Sophie, Christin-Maitre, Jocelyne, De Laveaucoupet, Dominique, de Ziegler, Elodie, Debras, Christine, Decanter, Jacques, Demouzon, Didier, Dewailly, Gauthier, Dietrich, Ludovic, Dumont, Sylvie, Epelboin, Florence, Eustache, Marc, Even, Renato, Fanchin, Patricia, Fauque, Stéphanie, Fay, Aurélie, Feraille, Hervé, Fernandez, Xavier, Ferraretto, Lucile, Ferreux, Meriem, Filali, Julie, Firmin, Muriel, Flis-Trèves, Camille, Fossard, Thomas, Freour, René, Frydman, Michael, Grynberg, Camille, Grysole, Véronique, Guegan, Samir, Hamamah, Estelle, Heggarty, Hesters, Laetitia, Vincent, Izard, Laetitia, Jacquesson, Margaux, Jegaden, Léa, Karpel, Julie, Labrosse, Tatiana, Lecot-Connan, Elodie, Lefranc, Hélène, Letur, Jean-Marc, Levaillant, Marie-Astrid, Llabador, Noureddine, Louanjli, Sophie, Loubersac, Chloé, Maignien, Moudou, Mamoune Mbaye, Louis, Marcellin, Nathalie, Massin, d'Argent Emmanuelle, Mathieu, Marie-Laure, Maurin, Anne, Mayeur, Charlotte, Methorst, Anne Élodie, Millischer, Pierre, Miron, Debbie, Montjean, Arnold, Munnich, Jana, Muroňová, François, Olivennes, Anne, Oppenheimer, Catherine, Patrat, Sarah, Peyrelevade, Olivier, Pirrello, Paul, Pirtea, Khaled, Pocate-Cheriet, Xavier, Pollet-Villard, Marine, Poulain, Anne-Gaëlle, Pourcelot, Julien, Puntonet, Pierre, Ray, Arnaud, Reignier, Virginie, Rio, Nathalie, Rives, Catherine, Rongières, Pietro, Santulli, Inès, Sellami, Lise, Selleret, Christophe, Sifer, Charlotte, Sonigo, Julie, Steffann, Myriam, Szejer, Charles, Tibi, Jessica, Vandame, Yves, Ville, Jonathan, Zerbib, Achour-Frydman, Nelly, Alter, Laura, Hoffet, Aurélie Amar, Avril, Catherine, Belaisch-Allart, Joëlle, Belhadrie-Mansouri, Naima, Bergere, Marianne, Boistot, Lucile, Boyer, Pierre, Brugnon, Florence, Catteau, Aurore, Chauffour, Candice, Celton, Noémie, Copin, Henri, Dejou-Bouillet, Lydie, Deutsch-Bringer, Sophie, Devaux, Aviva, Dolto, Catherine, Dumont, Martine, Duros, Solène, Ferraretto, Xavier, Ferretti, Caterina, Gayet, Vanessa, Gervoise-Boyer, Marie, Giguère, Claudie, Gremeau, Anne-Sophie, Gronier, Héloïse, Guérin, Jean-François, Haouzi, Delphine, Hédon, Bernard, Hugues, Jean-Noël, Janny, Laurent, Kadoch, Isaac-Jacques, Le Bras-Mayeur, Anne, Lédée, Nathalie, Lemoine, Mathilde, Lévy, Rachel, de Royer, Marie-Astrid Llabador, Lornage, Jacqueline, Lubin, Vanessa, Marzouk, Paul, Merviel, Philippe, Mestres, Stéphanie, Molina-Gomes, Denise, Montagut, Jacques, Nataf, Eric, Oger, Pierre, Pouly, Jean-Luc, Rayssiguier, Romy, Rossin, Betty, Salle, Bruno, Scalici, Elodie, Selva, Jacqueline, Siraudin, Cendrine, Splingart, Carole, Torre, Antoine, Valière, Martine, Vialard, François, Vinolas, Claire, and Yazbeck, Chadi
Published: 2023
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43. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Laura Putignano, Anna, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Birk Jensen, Uffe, Crüger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., Rookus, Matti A., Hooning, Maartje J., Nelen, Marcel R., van der Luijt, Rob B., van Os, Theo A.M., van Asperen, Christi J., Devilee, Peter, Meijers-Heijboer, Hanne E.J., Gómez Garcia, Encarna B., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Gareth Evans, D., Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, John Kennedy, M., Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F., Tea, Muy-Kheng, Pfeiler, Georg, Catharina Dressler, Anne, Hansen, Thomas v.O., Jønson, Lars, Ejlertsen, Bent, Bjork Barkardottir, Rosa, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D.P., Sucheston, Lara, Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L., Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Chun Ding, Yuan, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S., Couch, Fergus, Simard, Jacques, Easton, Douglas F., and Chenevix-Trench, Georgia
Published: 2011
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44. Altered Sleep Brain Functional Connectivity in Acutely Depressed Patients

Author: Leistedt, Samuël J.J., Coumans, Nathalie, Dumont, Martine, Lanquart, Jean-Pol, Stam, Cornelis J., and Linkowski, Paul
Published: 2009
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45. Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Author: Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel, Allen, Jamie, Kar, Siddhartha, Pooley, Karen, Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan, Ghoussaini, Maya, Moradi Marjaneh, Mahdi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Alonso, M. Rosario, Andrulis, Irene, Anton-Culver, Hoda, Antonenkova, Natalia, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan, Arun, Banu, Auber, Bernd, Auer, Paul, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa, Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Stig, Bolla, Manjeet, Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian, Brooks-Wilson, Angela, Bruning, Thomas, Burwinkel, Barbara, Buys, Saundra, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria, Camp, Nicola, Campbell, Ian, Canzian, Federico, Carroll, Jason, Carter, Brian, Castelao, Jose, Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy, Claes, Kathleen, Clarke, Christine, Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus, Cox, Angela, Cross, Simon, Cybulski, Cezary, Czene, Kamila, Daly, Mary, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian, Domchek, Susan, Dork, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter, Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia, Gapstur, Susan, Garber, Judy, Garcia-Saenz, Jose, Gaudet, Mia, Georgoulias, Vassilios, Giles, Graham, Glendon, Gord, Godwin, Andrew, Goldberg, Mark, Goldgar, David, Gonzalez-Neira, Anna, Greene, Mark, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher, Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia, Hartikainen, Jaana, Hartman, Mikael, He, Wei, Healey, Catherine, Heemskerk-Gerritsen, Bernadette, Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans, Hollestelle, Antoinette, Hooning, Maartje, Hopper, John, Howell, Anthony, Huang, Guanmengqian, Hulick, Peter, Imyanitov, Evgeny, Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jankowitz, Rachel, John, Esther, Johnson, Nichola, Jones, Michael, Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Karlan, Beth, Keeman, Renske, Kerin, Michael, Khusnutdinova, Elza, Kiiski, Johanna, Kirk, Judy, Kitahara, Cari, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer, Lubinski, Jan, MacInnis, Robert, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Middha, Pooja, Miller, Nicola, Miller, Austin, Montagna, Marco, Moreno, Fernando, Mulligan, Anna Marie, Munoz-Garzon, Victor, Muranen, Taru, Narod, Steven, Nassir, Rami, Nathanson, Katherine, Neuhausen, Susan, Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn, Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue, Park-Simon, Tjoung-Won, Parsons, Michael, Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanz, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pujana, Miquel Angel, Pylkas, Katri, Radice, Paolo, Ramus, Susan, Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey, Robson, Mark, Romero, Atocha, Rossing, Caroline Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale, Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor, Scheuner, Maren, Schmidt, Daniel, Schmutzler, Rita, Schneeweiss, Andreas, Schoemaker, Minouk, Schottker, Ben, Schurmann, Peter, Scott, Christopher, Scott, Rodney, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian, Slavin, Thomas, Smichkoska, Snezhana, Southey, Melissa, Spinelli, John, Spurdle, Amanda, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tamimi, Rulla, Tan, Yen Yen, Tapper, William, Taylor, Jack, Teixeira, Manuel, Tengstrom, Maria, Teo, Soo, Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thull, Darcy, Tibiletti, Maria Grazia, Tischkowitz, Marc, Toland, Amanda, Tollenaar, Rob, Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi, van der Kolk, Lizet, van Rensburg, Elizabeth, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maatje, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice, Weitzel, Jeffrey, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna, Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Pharoah, Paul, Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka, Milne, Roger, Kristensen, Vessela, French, Juliet, Edwards, Stacey, Antoniou, Antonis, Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas, Kraft, Peter, and Dunning, Alison
Subjects: 0303 health sciences, Linkage disequilibrium, In silico, Computational biology, Biology, 3. Good health, Chromatin, DNA binding site, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Expression quantitative trait loci, Transcription factor, Gene, 030304 developmental biology, Genetic association
Abstract: Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants (CCVs) in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium, and enriched genomic features to determine variants with high posterior probabilities (HPPs) of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of potentially causal variants, using gene expression (eQTL), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways, were over-represented among the 178 highest confidence target genes.
Published: 2019
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46. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Author: Simard, Jacques, Dumont, Martine, Moisan, Anne-Marie, Gaborieau, Valérie, Malouin, Hélène, Durocher, Francine, Chiquette, Jocelyne, Plante, Marie, Avard, Denise, Bessette, Paul, Brousseau, Claire, Dorval, Michel, Godard, Béatrice, Houde, Louis, Joly, Yann, Lajoie, Marie-Andrée, Leblanc, Gilles, Lépine, Jean, Lespérance, Bernard, Vézina, Hélène, Parboosingh, Jillian, Pichette, Roxane, Provencher, Louise, Rhéaume, Josée, Sinnett, Daniel, Samson, Carolle, Simard, Jean-Claude, Tranchant, Martine, Voyer, Patricia, Easton, Douglas, Tavtigian, Sean V, Knoppers, Bartha-Maria, Laframboise, Rachel, Bridge, Peter, and Goldgar, David
Published: 2007

47. Interdependency between heart rate variability and sleep EEG: linear/non-linear?

Author: Dumont, Martine, Jurysta, Fabrice, Lanquart, Jean-Pol, Migeotte, Pierre-François, van de Borne, Philippe, and Linkowski, Paul
Published: 2004
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48. Perspective: Prostate Cancer Susceptibility Genes

Author: Simard, Jacques, Dumont, Martine, Soucy, Penny, and Labrie, Fernand
Published: 2002

49. Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control

Author: Hamdi, Yosr, primary, Leclerc, Martin, additional, Dumont, Martine, additional, Dubois, Stéphane, additional, Tranchant, Martine, additional, Reimnitz, Guy, additional, Soucy, Penny, additional, Cassart, Pauline, additional, Ouimet, Manon, additional, Sinnett, Daniel, additional, Chaieb, M'Hamed Lajmi Lakhal, additional, and Simard, Jacques, additional
Published: 2019
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50. Characterization, Expression, and Immunohistochemical Localization of 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase in Human Skin

Author: Dumont, Martine, Luu-The, Van, Dupont, Eric, Pelletier, Georges, and Labrie, Fernand
Published: 1992

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