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1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, 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, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, and Montagna, Marco

Subjects
Human Genome, Prevention, Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators
Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

3. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Author

Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Yie, Joanne Ngeow Yuen, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Women's Health, Digestive Diseases, Breast Cancer, Ovarian Cancer, Pancreatic Cancer, Prevention, Cancer, Urologic Diseases, Rare Diseases, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Ovarian Neoplasms, Pancreatic Neoplasms, Risk, Clinical Sciences, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

PurposeTo provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.MethodsWe used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.ResultsBRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers.ConclusionIn addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.

Published
2022

4. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

Author

Lakeman, Inge MM, van den Broek, Alexandra J, Vos, Juliën AM, Barnes, Daniel R, Adlard, Julian, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A, Chung, Wendy K, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Couch, Fergus J, Daly, Mary B, Dennis, Joe, Dhawan, Mallika, Domchek, Susan M, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gayther, Simon A, Gerdes, Anne-Marie, Godwin, Andrew K, Goldgar, David E, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hogervorst, Frans BL, Hooning, Maartje J, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, OCGN Investigators, HEBON Investigators, KconFab Investigators, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kets, Carolien M, Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue K, Parsons, Michael T, Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A, Schmutzler, Rita K, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, and Thull, Darcy L

Subjects
GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators, KconFab Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Retrospective Studies, Heterozygote, Mutation, Adult, Female, Prevention, Cancer, Aging, Breast Cancer, 2.1 Biological and endogenous factors, Genetics & Heredity, Genetics, Clinical Sciences
Abstract

PurposeTo evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes.MethodsWe included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk.ResultsFor BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC

Published
2021

6. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Author

Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, and Lesueur, Fabienne

Published
2023
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7. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

Author

Friebel, Tara M, Andrulis, Irene L, Balmaña, Judith, Blanco, Amie M, Couch, Fergus J, Daly, Mary B, Domchek, Susan M, Easton, Douglas F, Foulkes, William D, Ganz, Patricia A, Garber, Judy, Glendon, Gord, Greene, Mark H, Hulick, Peter J, Isaacs, Claudine, Jankowitz, Rachel C, Karlan, Beth Y, Kirk, Judy, Kwong, Ava, Lee, Annette, Lesueur, Fabienne, Lu, Karen H, Nathanson, Katherine L, Neuhausen, Susan L, Offit, Kenneth, Palmero, Edenir I, Sharma, Priyanka, Tischkowitz, Marc, Toland, Amanda E, Tung, Nadine, van Rensburg, Elizabeth J, Vega, Ana, Weitzel, Jeffrey N, Collaborators, GEMO Study, Hoskins, Kent F, Maga, Tara, Parsons, Michael T, McGuffog, Lesley, Antoniou, Antonis C, Chenevix‐Trench, Georgia, Huo, Dezheng, Olopade, Olufunmilayo I, and Rebbeck, Timothy R

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Breast Cancer, Cancer, Alleles, BRCA1 Protein, BRCA2 Protein, Black People, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Mutation, Population Surveillance, African ancestry, BRCA1, BRCA2, mutation, pathogenic sequence variant, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review of the published literature and publicly available databases reporting BRCA1/2 PSVs also accessed the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) database to identify African or African descent individuals. Using these data, we inferred which of the BRCA PSVs were likely to be of African continental origin. Of the 43,817 BRCA1/2 PSV carriers in the CIMBA database, 469 (1%) were of African descent. Additional African descent individuals were identified in public databases (n = 291) and the literature (n = 601). We identified 164 unique BRCA1 and 173 unique BRCA2 PSVs in individuals of African ancestry. Of these, 83 BRCA1 and 91 BRCA2 PSVs are of likely or possible African origin. We observed numerous differences in the distribution of PSV type and function in African origin versus non-African origin PSVs. Research in populations of African ancestry with BRCA1/2 PSVs is needed to provide the information needed for clinical management and decision-making in African descent individuals worldwide.

Published
2019

8. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Author

Qian, Frank, Rookus, Matti A, Leslie, Goska, Risch, Harvey A, Greene, Mark H, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Białkowska, Katarzyna, Bonadona, Valérie, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Collonge-Rame, Marie-Agnès, Couch, Fergus J, Daly, Mary B, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dorfling, Cecilia M, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Hamann, Ute, Hauke, Jan, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M, Karlan, Beth Y, Kets, Carolien M, Laitman, Yael, Lázaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Łukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Nehoray, Bita, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C, Ottini, Laura, Parsons, Michael T, Peterlongo, Paolo, Pfeiler, Georg, and Pradhan, Nisha

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Prevention, Ovarian Cancer, Breast Cancer, Genetics, Aging, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Body Height, Body Mass Index, Female, Genes, BRCA1, Genes, BRCA2, Heterozygote, Humans, Mendelian Randomization Analysis, Menopause, Middle Aged, Mutation, Ovarian Neoplasms, Proportional Hazards Models, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, CIMBA, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundHeight and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown.MethodsWe applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models.ResultsObserved height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m2 increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction

Published
2019

9. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Author

Qian, Frank, Wang, Shengfeng, Mitchell, Jonathan, McGuffog, Lesley, Barrowdale, Daniel, Leslie, Goska, Oosterwijk, Jan C, Chung, Wendy K, Evans, D Gareth, Engel, Christoph, Kast, Karin, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barouk-Simonet, Emmanuelle, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Claes, Kathleen BM, Margriet Collée, J, Couch, Fergus J, Coupier, Isabelle, Daly, Mary B, Davidson, Rosemarie, Diez, Orland, Domchek, Susan M, Donaldson, Alan, Dorfling, Cecilia M, Eeles, Ros, Feliubadaló, Lidia, Foretova, Lenka, Fowler, Jeffrey, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Ángel, Jakubowska, Anna, Kaczmarek, Katarzyna, Kang, Eunyoung, Karlan, Beth Y, Kets, Carolien M, Kim, Sung-Won, Kim, Zisun, Kwong, Ava, Laitman, Yael, Lasset, Christine, Hyuk Lee, Min, Won Lee, Jong, Lee, Jihyoun, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubinski, Jan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Morrison, Patrick J, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C, Nussbaum, Robert L, and Offit, Kenneth

Subjects
GEMO Study Collaborators, HEBON, EMBRACE, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Body Mass Index, Body Height, Prognosis, Risk Factors, Mutation, Polymorphism, Single Nucleotide, Adult, Female, Mendelian Randomization Analysis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundBRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.MethodsWe used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided.ResultsObserved height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer.ConclusionHeight is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.

Published
2019

10. First international workshop of the ATM and cancer risk group (4-5 December 2019)

Author

Lesueur, Fabienne, Easton, Douglas F., Renault, Anne-Laure, Tavtigian, Sean V., Bernstein, Jonine L., Kote-Jarai, Zsofia, Eeles, Rosalind A., Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, Nguyen-Dumont, Tú, Southey, Melissa C., Dorling, Leila, Dunning, Alison M., Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J., Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander M. R., Goldstein, Alisa M., Goldgar, David E., Stoppa-Lyonnet, Dominique, and Andrieu, Nadine

Published
2022
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11. A polygenic risk score for multiple myeloma risk prediction

Author

Canzian, Federico, Piredda, Chiara, Macauda, Angelica, Zawirska, Daria, Andersen, Niels Frost, Nagler, Arnon, Zaucha, Jan Maciej, Mazur, Grzegorz, Dumontet, Charles, Wątek, Marzena, Jamroziak, Krzysztof, Sainz, Juan, Várkonyi, Judit, Butrym, Aleksandra, Beider, Katia, Abildgaard, Niels, Lesueur, Fabienne, Dudziński, Marek, Vangsted, Annette Juul, Pelosini, Matteo, Subocz, Edyta, Petrini, Mario, Buda, Gabriele, Raźny, Małgorzata, Gemignani, Federica, Marques, Herlander, Orciuolo, Enrico, Kadar, Katalin, Jurczyszyn, Artur, Druzd-Sitek, Agnieszka, Vogel, Ulla, Andersen, Vibeke, Reis, Rui Manuel, Suska, Anna, Avet-Loiseau, Hervé, Kruszewski, Marcin, Tomczak, Waldemar, Rymko, Marcin, Minvielle, Stephane, and Campa, Daniele

Published
2022
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12. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Author

Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.

Published
2022
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13. A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Author

Lu, Yingchang, Beeghly-Fadiel, Alicia, Wu, Lang, Guo, Xingyi, Li, Bingshan, Schildkraut, Joellen M, Im, Hae Kyung, Chen, Yian A, Permuth, Jennifer B, Reid, Brett M, Teer, Jamie K, Moysich, Kirsten B, Andrulis, Irene L, Anton-Culver, Hoda, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Benitez, Javier, Bjorge, Line, Brenton, James, Butzow, Ralf, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Chang-Claude, Jenny, Claes, Kathleen BM, Couch, Fergus J, Cramer, Daniel W, Daly, Mary B, deFazio, Anna, Dennis, Joe, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Easton, Douglas F, Eccles, Diana M, Fasching, Peter A, Fortner, Renée T, Fountzilas, George, Friedman, Eitan, Ganz, Patricia A, Garber, Judy, Giles, Graham G, Godwin, Andrew K, Goldgar, David E, Goodman, Marc T, Greene, Mark H, Gronwald, Jacek, Hamann, Ute, Heitz, Florian, Hildebrandt, Michelle AT, Høgdall, Claus K, Hollestelle, Antoinette, Hulick, Peter J, Huntsman, David G, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Karlan, Beth Y, Kelemen, Linda E, Kiemeney, Lambertus A, Kjaer, Susanne K, Kwong, Ava, Le, Nhu D, Leslie, Goska, Lesueur, Fabienne, Levine, Douglas A, Mattiello, Amalia, May, Taymaa, McGuffog, Lesley, McNeish, Iain A, Merritt, Melissa A, Modugno, Francesmary, Montagna, Marco, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, Nikitina-Zake, Liene, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Sara H, Olsson, Håkan, Osorio, Ana, Park, Sue K, Parsons, Michael T, Peeters, Petra HM, Pejovic, Tanja, Peterlongo, Paolo, Phelan, Catherine M, Pujana, Miquel Angel, Ramus, Susan J, Rennert, Gad, Risch, Harvey, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, and Romieu, Isabelle

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Prevention, Human Genome, Ovarian Cancer, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Carcinogenesis, Carcinoma, Ovarian Epithelial, Cohort Studies, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Prognosis, Quantitative Trait Loci, Risk Factors, Transcriptome, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions, and causal genes underlying these associations remain largely unknown. Here, we performed a transcriptome-wide association study to search for novel genetic loci and plausible causal genes at known GWAS loci. We used RNA sequencing data (68 normal ovarian tissue samples from 68 individuals and 6,124 cross-tissue samples from 369 individuals) and high-density genotyping data from European descendants of the Genotype-Tissue Expression (GTEx V6) project to build ovarian and cross-tissue models of genetically regulated expression using elastic net methods. We evaluated 17,121 genes for their cis-predicted gene expression in relation to EOC risk using summary statistics data from GWAS of 97,898 women, including 29,396 EOC cases. With a Bonferroni-corrected significance level of P < 2.2 × 10-6, we identified 35 genes, including FZD4 at 11q14.2 (Z = 5.08, P = 3.83 × 10-7, the cross-tissue model; 1 Mb away from any GWAS-identified EOC risk variant), a potential novel locus for EOC risk. All other 34 significantly associated genes were located within 1 Mb of known GWAS-identified loci, including 23 genes at 6 loci not previously linked to EOC risk. Upon conditioning on nearby known EOC GWAS-identified variants, the associations for 31 genes disappeared and three genes remained (P < 1.47 × 10-3). These data identify one novel locus (FZD4) and 34 genes at 13 known EOC risk loci associated with EOC risk, providing new insights into EOC carcinogenesis.Significance: Transcriptomic analysis of a large cohort confirms earlier GWAS loci and reveals FZD4 as a novel locus associated with EOC risk. Cancer Res; 78(18); 5419-30. ©2018 AACR.

Published
2018

14. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Author

Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B, Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J, Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R, Brewer, Carole, Buecher, Bruno, Buys, Saundra S, Caligo, Maria A, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Gareth Evans, D, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A, Garber, Judy, Gayther, Simon A, GEMO Study Collaborators, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hart, Steven, Hays, John L, HEBON, Hogervorst, Frans BL, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y, KConFab Investigators, Kets, Carolien M, Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T, Manoukian, Siranoush, and Mariani, Milena

Subjects
EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, Chromosomes, Human, Pair 11, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Risk, Gene Expression, Heterozygote, Mutation, Alleles, Genes, BRCA1, Genes, BRCA2, Quantitative Trait Loci, Female, Genetic Variation, Biomarkers, Tumor, BRCA1 and BRCA2 mutation carriers, Breast cancer, Cis-regulatory variants, Differential allelic expression, Genetic modifiers, Genetic susceptibility, Chromosomes, Human, Pair 11, Genes, BRCA1, BRCA2, Biomarkers, Tumor, Oncology & Carcinogenesis, Oncology and Carcinogenesis, Clinical Sciences
Abstract

PurposeCis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.MethodsUsing data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.ResultsWe identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.ConclusionWe identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.

Published
2017

16. 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 B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, 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, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, 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., and Antoniou, Antonis C.

Published
2020
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19. Characteristics and correlates of seclusion and mechanical restraint measures in a Parisian psychiatric hospital group

Author

Dauriac-Le Masson, Valerie, primary, El-Khoury Lesueur, Fabienne, additional, Lahaye, Justine, additional, Launay, Corinne, additional, Christodoulou, Alexandre, additional, Boiteux, Catherine, additional, Maman, Judith, additional, Bonnemaison, Xavier, additional, Perquier, Florence, additional, and Vacheron, Marie-Noelle, additional

Published
2024
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21. 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, Aittomäki, 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, Brüning, 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, Dörk, 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, García-Closas, Montserrat, Gehrig, Andrea, Damiola, Francesca, Lesueur, Fabienne, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Giles, Graham G, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Haiman, Christopher A, Hallberg, Emily, Hamann, Ute, and Hansen, Thomas V. O

Published
2016

22. 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

23. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author

Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O’Mara, Tracy A., Dennis, Joe, Tyrer, Jonathan P., Barnes, Daniel R., McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K., Adank, Muriel A., Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heiko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, and Antoniou, Antonis C.

Published
2021
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24. Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

Author

Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, and Andrieu, Nadine

Published
2021
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25. 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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26. A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Author

Jiao, Yue, Lesueur, Fabienne, Azencott, Chloé-Agathe, Laurent, Maïté, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Laugé, Anthony, Noguès, Catherine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, and Caputo, Sandrine M.

Published
2021
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28. Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma

Author

Kulkarni, Om, Sugier, Pierre-Emmanuel, Guibon, Julie, Boland-Augé, Anne, Lonjou, Christine, Bacq-Daian, Delphine, Olaso, Robert, Rubino, Carole, Souchard, Vincent, Rachedi, Frédérique, Lence-Anta, Juan Jesus, Ortiz, Rosa Maria, Xhaard, Constance, Laurent-Puig, Pierre, Mulot, Claire, Guizard, Anne-Valérie, Schvartz, Claire, Boutron-Ruault, Marie-Christine, Ostroumova, Evgenia, Kesminiene, Ausrele, Deleuze, Jean-François, Guénel, Pascal, De Vathaire, Florent, Truong, Thérèse, and Lesueur, Fabienne

Published
2021
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29. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Author

Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.

Published
2022
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31. Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia–Telangiectasia Mutated Variant Carriers.

Author

Bensenane, Rayan, Beddok, Arnaud, Lesueur, Fabienne, Fourquet, Alain, Warcoin, Mathilde, Le Mentec, Marine, Cavaciuti, Eve, Le Gal, Dorothée, Eon-Marchais, Séverine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, and Kirova, Youlia

Subjects
RISK assessment, STATISTICAL models, LYMPHEDEMA, THERAPEUTIC complications, RADIOTHERAPY, RESEARCH funding, SKIN inflammation, BREAST tumors, GENETIC markers, SCIENTIFIC observation, FISHER exact test, ATAXIA telangiectasia, CANCER patients, RETROSPECTIVE studies, RADIATION dosimetry, DESCRIPTIVE statistics, CHI-squared test, FIBROSIS, KAPLAN-Meier estimator, ESTROGEN receptors, FLUORESCENCE in situ hybridization, GENETIC mutation, RADIATION doses, DATA analysis software, ALLELES, GENOTYPES, SINGLE nucleotide polymorphisms, SEQUENCE analysis, EPIDERMAL growth factor receptors, DEGLUTITION disorders
Abstract

Simple Summary: Of the worldwide population, 0.5 to 1% of people are carrying a heterozygous mutation of Ataxia–Telangiectasia Mutated (ATM) gene. While the clinical radiosensitivity of carriers of germline biallelic inactivation of the ATM gene is well described, controversies are observed for monoallelic carriers of ATM mutation. The aim of this study is to evaluate acute and late toxicities after adjuvant breast radiation therapy in ATM pathogenic variant carriers. This observational retrospective study showed an absence of significative acute and late toxicities after breast radiation therapy among patients carrying a heterozygous rare variant of the ATM gene. Single nucleotide polymorphism rs1801516 (G/A), described as associated with late subcutaneous fibrosis, was not associated with this late adverse event in our study. The Ataxia–Telangiectasia Mutated (ATM) gene is implicated in DNA double-strand break repair. Controversies in clinical radiosensitivity remain known for monoallelic carriers of the ATM pathogenic variant (PV). An evaluation of the single-nucleotide polymorphism (SNP) rs1801516 (G-A) showed different results regarding late subcutaneous fibrosis after breast radiation therapy (RT). The main objective of this study was to evaluate acute and late toxicities in carriers of a rare ATM PV or predicted PV and in carriers of minor allele A of rs1801516 facing breast RT. Fifty women with localized breast cancer treated with adjuvant RT between 2000 and 2014 at Institut Curie were selected. Acute and late toxicities in carriers of a rare PV or predicted PV (n= 9), in noncarriers (n = 41) and in carriers of SNP rs1801516 (G-A) (n = 8), were examined. The median age at diagnosis was 53 years old and 82% of patients had an invasive ductal carcinoma and 84% were at clinical stage I–IIB. With a median follow-up of 13 years, no significant difference between carriers and noncarriers was found for acute toxicities (p > 0.05). The same results were observed for late toxicities without an effect from the rs1801516 genotype on toxicities. No significant difference in acute or late toxicities was observed between rare ATM variant carriers and noncarriers after breast RT for localized breast cancer. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Characteristics and correlates of seclusion and mechanical restraint measures in a Parisian psychiatric hospital group.

Author

Masson, Valerie Dauriac-Le, Lesueur, Fabienne El-Khoury, Lahaye, Justine, Launay, Corinne, Christodoulou, Alexandre, Boiteux, Catherine, Maman, Judith, Bonnemaison, Xavier, Perquier, Florence, and Vacheron, Marie-Noelle

Subjects
PSYCHIATRIC hospitals, SOLITUDE, PATIENT safety, PATIENTS' attitudes, PSYCHIATRIC drugs
Abstract

Introduction: Seclusion or restraint (S/R) are last-resort measures used in psychiatry to ensure the safety of the patient and the staff. However, they have harmful physical and psychological effects on patients, and efforts to limit their use are needed. We describe the characteristics and correlates of S/R events in four Parisian psychiatric centers. Methods: Within a 3-month period, November 5, 2018 to February 3, 2019, we recorded data for patients experiencing an S/R measure as well as characteristics of the measures. We studied the mean duration of a S/R event, the time between hospital admission and the occurrence of the event, as well as correlates of these durations. We also examined factors associated with use of a restraint versus a seclusion measure. Results: For the 233 patients included, we recorded 217 seclusion measures and 64 mechanical restraints. Seclusion measures mostly occurred after the patient's transfer from the emergency department. The duration of a seclusion measure was about 10 days. Patients considered resistant to psychotropic treatments more frequently had a longer seclusion duration than others. The mean duration of a mechanical restraint measure was 4 days. Male sex and younger age were associated with experiencing mechanical restraint. Discussion: S/R measures mostly occur among patients perceived as resistant to psychotropic drugs who are arriving from the emergency department. Developing specific emergency department protocols might be useful in limiting the use of coercive measures. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Genetically determined telomere length and multiple myeloma risk and outcome

Author

Giaccherini, Matteo, Macauda, Angelica, Orciuolo, Enrico, Rymko, Marcin, Gruenpeter, Karolina, Dumontet, Charles, Raźny, Malgorzata, Moreno, Victor, Buda, Gabriele, Beider, Katia, Varkonyi, Judit, Avet-Loiseau, Hervé, Martinez-Lopez, Joaquín, Marques, Herlander, Watek, Marzena, Sarasquete, Maria Eugenia, Andersen, Vibeke, Karlin, Lionel, Suska, Anna, Kruszewski, Marcin, Abildgaard, Niels, Dudziński, Marek, Butrym, Aleksandra, Nagler, Arnold, Vangsted, Annette Juul, Kadar, Katalin, Waldemar, Tomczak, Jamroziak, Krzysztof, Jacobsen, Svend Erik Hove, Ebbesen, Lene Hyldahl, Taszner, Michał, Mazur, Grzegorz, Lesueur, Fabienne, Pelosini, Matteo, Garcia-Sanz, Ramon, Jurczyszyn, Artur, Demangel, Delphine, Reis, Rui Manuel, Iskierka-Jażdżewska, Elżbieta, Markiewicz, Miroslaw, Gemignani, Federica, Subocz, Edyta, Zawirska, Daria, Druzd-Sitek, Agnieszka, Stępień, Anna, Alonso, M. Henar, Sainz, Juan, Canzian, Federico, and Campa, Daniele

Published
2021
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36. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

Author

Pertesi, Maroulio, Vallée, Maxime, Wei, Xiaomu, Revuelta, Maria V., Galia, Perrine, Demangel, Delphine, Oliver, Javier, Foll, Matthieu, Chen, Siwei, Perrial, Emeline, Garderet, Laurent, Corre, Jill, Leleu, Xavier, Boyle, Eileen M., Decaux, Olivier, Rodon, Philippe, Kolb, Brigitte, Slama, Borhane, Mineur, Philippe, Voog, Eric, Le Bris, Catherine, Fontan, Jean, Maigre, Michel, Beaumont, Marie, Azais, Isabelle, Sobol, Hagay, Vignon, Marguerite, Royer, Bruno, Perrot, Aurore, Fuzibet, Jean-Gabriel, Dorvaux, Véronique, Anglaret, Bruno, Cony-Makhoul, Pascale, Berthou, Christian, Desquesnes, Florence, Pegourie, Brigitte, Leyvraz, Serge, Mosser, Laurent, Frenkiel, Nicole, Augeul-Meunier, Karine, Leduc, Isabelle, Leyronnas, Cécile, Voillat, Laurent, Casassus, Philippe, Mathiot, Claire, Cheron, Nathalie, Paubelle, Etienne, Moreau, Philippe, Bignon, Yves–Jean, Joly, Bertrand, Bourquard, Pascal, Caillot, Denis, Naman, Hervé, Rigaudeau, Sophie, Marit, Gérald, Macro, Margaret, Lambrecht, Isabelle, Cliquennois, Manuel, Vincent, Laure, Helias, Philippe, Avet-Loiseau, Hervé, Moreno, Victor, Reis, Rui Manuel, Varkonyi, Judit, Kruszewski, Marcin, Vangsted, Annette Juul, Jurczyszyn, Artur, Zaucha, Jan Maciej, Sainz, Juan, Krawczyk-Kulis, Malgorzata, Wątek, Marzena, Pelosini, Matteo, Iskierka-Jażdżewska, Elzbieta, Grząśko, Norbert, Martinez-Lopez, Joaquin, Jerez, Andrés, Campa, Daniele, Buda, Gabriele, Lesueur, Fabienne, Dudziński, Marek, García-Sanz, Ramón, Nagler, Arnon, Rymko, Marcin, Jamroziak, Krzysztof, Butrym, Aleksandra, Canzian, Federico, Obazee, Ofure, Nilsson, Björn, Klein, Robert J., Lipkin, Steven M., McKay, James D., and Dumontet, Charles

Published
2019
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38. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Author

Sugier, Pierre-Emmanuel, Lucotte, Elise A., Domenighetti, Cloé, Law, Matthew H., Iles, Mark M., Brown, Kevin, Amos, Christopher, McKay, James D., Hung, Rayjean J., Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-François, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, consortium, The Epithyr, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj Reddy, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B., Hernandez, Dena G., Edsall, Connor, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E., Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P. C., Bloem, Bastiaan R., Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E., Morrison, Karen E., Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F., Farrer, Matt J., Krüger, Rejko, Gasser, Thomas, Sharma, Manu, Landoulsi, Zied, consortium, Courage-PD, Truong, Thérèse, Elbaz, Ales, JPND Courage-PD [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], and Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center]

Subjects
Male, Lung Neoplasms, Parkinson's disease, Neurology [D14] [Human health sciences], RESEARCH ARTICLES, RESEARCH ARTICLE, SDG 3 - Good Health and Well-being, genetics [Parkinson Disease], Risk Factors, pleiotropy, Humans, cancer, ddc:610, genetics [Genetic Predisposition to Disease], Ovarian Neoplasms, Neurologie [D14] [Sciences de la santé humaine], Prostatic Neoplasms, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], genetic correlation, parkinson's disease, polygenic risk score, epidemiology [Melanoma], Neurology, genetics [Melanoma], genetics [Polymorphism, Single Nucleotide], Female, epidemiology [Parkinson Disease], Genetics & genetic processes [F10] [Life sciences], Neurology (clinical), Génétique & processus génétiques [F10] [Sciences du vivant], Genome-Wide Association Study
Abstract

BackgroundEpidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties.ObjectiveWe used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors.MethodsWe used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses.ResultsWe confirmed a previously reported positive genetic correlation of PD with melanoma (Gcorr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (Gcorr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven by rs183211 located in an intron of the NSF gene (17q21.31).ConclusionsWe show evidence in favor of a contribution of pleiotropic genes to the association between PD and specific cancers. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Published
2023

39. Do Determinants of Smoking Cessation and Relapse Differ between Men and Women? Data from a French National Study.

Author

Manns, Aurélia, Torregrossa, Hugo, Mahdjoub, Sarah, Gomajee, Ramchandar, Melchior, Maria, and El-Khoury Lesueur, Fabienne

Subjects
SMOKING cessation, SOCIAL determinants of health, MULTIPLE regression analysis, DISEASE relapse, SEX distribution, SURVEYS, RESEARCH funding, FRENCH people
Abstract

Introduction: There is limited understanding of different predictors of smoking cessation success (SCS) among women and men, despite well-documented differences in smoking behavior. Methods: Using data from DePICT (Description des Perceptions, Images, et Comportements liés au Tabagisme), a national survey of French adults which recruited 2377 regular and former smokers we investigated whether major determinants of SCS differed by sex. Factors associated with unsuccessful vs. No successful quit attempt; vs. SCS were studied using multivariate multinomial logistic regression analyses stratified by sex. Results: Women and men share some determinants of SCS including no cannabis use, living in a nonsmoker household and importance giving to being a nonsmoker. However, no e-cigarette use, low-to-moderate alcohol consumption, early smoking initiation, and higher education were associated with SCS only among women. No use of nicotine replacement, having family members who smoke, family opinion on smoking and current employment, were associated with SCS only among men. Neutral or negative friends' opinion on smoking or living with a smoker were associated with unsuccessful smoking attempts among men. Conclusions: Our results show differences between determinants of SCS according to sex, which highlights the importance of developing tailored interventions that account for sex/gender differences in smoking cessation. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
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42. Supplementary Figure 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
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43. Supplementary Table 2 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
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44. Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
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45. Data from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
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46. Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Author

Lu, Yingchang, primary, Beeghly-Fadiel, Alicia, primary, Wu, Lang, primary, Guo, Xingyi, primary, Li, Bingshan, primary, Schildkraut, Joellen M., primary, Im, Hae Kyung, primary, Chen, Yian A., primary, Permuth, Jennifer B., primary, Reid, Brett M., primary, Teer, Jamie K., primary, Moysich, Kirsten B., primary, Andrulis, Irene L., primary, Anton-Culver, Hoda, primary, Arun, Banu K., primary, Bandera, Elisa V., primary, Barkardottir, Rosa B., primary, Barnes, Daniel R., primary, Benitez, Javier, primary, Bjorge, Line, primary, Brenton, James, primary, Butzow, Ralf, primary, Caldes, Trinidad, primary, Caligo, Maria A., primary, Campbell, Ian, primary, Chang-Claude, Jenny, primary, Claes, Kathleen B.M., primary, Couch, Fergus J., primary, Cramer, Daniel W., primary, Daly, Mary B., primary, deFazio, Anna, primary, Dennis, Joe, primary, Diez, Orland, primary, Domchek, Susan M., primary, Dörk, Thilo, primary, Easton, Douglas F., primary, Eccles, Diana M., primary, Fasching, Peter A., primary, Fortner, Renée T., primary, Fountzilas, George, primary, Friedman, Eitan, primary, Ganz, Patricia A., primary, Garber, Judy, primary, Giles, Graham G., primary, Godwin, Andrew K., primary, Goldgar, David E., primary, Goodman, Marc T., primary, Greene, Mark H., primary, Gronwald, Jacek, primary, Hamann, Ute, primary, Heitz, Florian, primary, Hildebrandt, Michelle A.T., primary, Høgdall, Claus K., primary, Hollestelle, Antoinette, primary, Hulick, Peter J., primary, Huntsman, David G., primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Jakubowska, Anna, primary, James, Paul, primary, Karlan, Beth Y., primary, Kelemen, Linda E., primary, Kiemeney, Lambertus A., primary, Kjaer, Susanne K., primary, Kwong, Ava, primary, Le, Nhu D., primary, Leslie, Goska, primary, Lesueur, Fabienne, primary, Levine, Douglas A., primary, Mattiello, Amalia, primary, May, Taymaa, primary, McGuffog, Lesley, primary, McNeish, Iain A., primary, Merritt, Melissa A., primary, Modugno, Francesmary, primary, Montagna, Marco, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Nielsen, Finn C., primary, Nikitina-Zake, Liene, primary, Nussbaum, Robert L., primary, Offit, Kenneth, primary, Olah, Edith, primary, Olopade, Olufunmilayo I., primary, Olson, Sara H., primary, Olsson, Håkan, primary, Osorio, Ana, primary, Park, Sue K., primary, Parsons, Michael T., primary, Peeters, Petra H.M., primary, Pejovic, Tanja, primary, Peterlongo, Paolo, primary, Phelan, Catherine M., primary, Pujana, Miquel Angel, primary, Ramus, Susan J., primary, Rennert, Gad, primary, Risch, Harvey, primary, Rodriguez, Gustavo C., primary, Rodríguez-Antona, Cristina, primary, Romieu, Isabelle, primary, Rookus, Matti A., primary, Rossing, Mary Anne, primary, Rzepecka, Iwona K., primary, Sandler, Dale P., primary, Schmutzler, Rita K., primary, Setiawan, Veronica W., primary, Sharma, Priyanka, primary, Sieh, Weiva, primary, Simard, Jacques, primary, Singer, Christian F., primary, Song, Honglin, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, Sutphen, Rebecca, primary, Swerdlow, Anthony J., primary, Teixeira, Manuel R., primary, Teo, Soo H., primary, Thomassen, Mads, primary, Tischkowitz, Marc, primary, Toland, Amanda E., primary, Trichopoulou, Antonia, primary, Tung, Nadine, primary, Tworoger, Shelley S., primary, van Rensburg, Elizabeth J., primary, Vanderstichele, Adriaan, primary, Vega, Ana, primary, Edwards, Digna Velez, primary, Webb, Penelope M., primary, Weitzel, Jeffrey N., primary, Wentzensen, Nicolas, primary, White, Emily, primary, Wolk, Alicja, primary, Wu, Anna H., primary, Yannoukakos, Drakoulis, primary, Zorn, Kristin K., primary, Gayther, Simon A., primary, Antoniou, Antonis C., primary, Berchuck, Andrew, primary, Goode, Ellen L., primary, Chenevix-Trench, Georgia, primary, Sellers, Thomas A., primary, Pharoah, Paul D.P., primary, Zheng, Wei, primary, and Long, Jirong, primary

Published
2023
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47. Online Supplementary Materials from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Author

Lu, Yingchang, primary, Beeghly-Fadiel, Alicia, primary, Wu, Lang, primary, Guo, Xingyi, primary, Li, Bingshan, primary, Schildkraut, Joellen M., primary, Im, Hae Kyung, primary, Chen, Yian A., primary, Permuth, Jennifer B., primary, Reid, Brett M., primary, Teer, Jamie K., primary, Moysich, Kirsten B., primary, Andrulis, Irene L., primary, Anton-Culver, Hoda, primary, Arun, Banu K., primary, Bandera, Elisa V., primary, Barkardottir, Rosa B., primary, Barnes, Daniel R., primary, Benitez, Javier, primary, Bjorge, Line, primary, Brenton, James, primary, Butzow, Ralf, primary, Caldes, Trinidad, primary, Caligo, Maria A., primary, Campbell, Ian, primary, Chang-Claude, Jenny, primary, Claes, Kathleen B.M., primary, Couch, Fergus J., primary, Cramer, Daniel W., primary, Daly, Mary B., primary, deFazio, Anna, primary, Dennis, Joe, primary, Diez, Orland, primary, Domchek, Susan M., primary, Dörk, Thilo, primary, Easton, Douglas F., primary, Eccles, Diana M., primary, Fasching, Peter A., primary, Fortner, Renée T., primary, Fountzilas, George, primary, Friedman, Eitan, primary, Ganz, Patricia A., primary, Garber, Judy, primary, Giles, Graham G., primary, Godwin, Andrew K., primary, Goldgar, David E., primary, Goodman, Marc T., primary, Greene, Mark H., primary, Gronwald, Jacek, primary, Hamann, Ute, primary, Heitz, Florian, primary, Hildebrandt, Michelle A.T., primary, Høgdall, Claus K., primary, Hollestelle, Antoinette, primary, Hulick, Peter J., primary, Huntsman, David G., primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Jakubowska, Anna, primary, James, Paul, primary, Karlan, Beth Y., primary, Kelemen, Linda E., primary, Kiemeney, Lambertus A., primary, Kjaer, Susanne K., primary, Kwong, Ava, primary, Le, Nhu D., primary, Leslie, Goska, primary, Lesueur, Fabienne, primary, Levine, Douglas A., primary, Mattiello, Amalia, primary, May, Taymaa, primary, McGuffog, Lesley, primary, McNeish, Iain A., primary, Merritt, Melissa A., primary, Modugno, Francesmary, primary, Montagna, Marco, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Nielsen, Finn C., primary, Nikitina-Zake, Liene, primary, Nussbaum, Robert L., primary, Offit, Kenneth, primary, Olah, Edith, primary, Olopade, Olufunmilayo I., primary, Olson, Sara H., primary, Olsson, Håkan, primary, Osorio, Ana, primary, Park, Sue K., primary, Parsons, Michael T., primary, Peeters, Petra H.M., primary, Pejovic, Tanja, primary, Peterlongo, Paolo, primary, Phelan, Catherine M., primary, Pujana, Miquel Angel, primary, Ramus, Susan J., primary, Rennert, Gad, primary, Risch, Harvey, primary, Rodriguez, Gustavo C., primary, Rodríguez-Antona, Cristina, primary, Romieu, Isabelle, primary, Rookus, Matti A., primary, Rossing, Mary Anne, primary, Rzepecka, Iwona K., primary, Sandler, Dale P., primary, Schmutzler, Rita K., primary, Setiawan, Veronica W., primary, Sharma, Priyanka, primary, Sieh, Weiva, primary, Simard, Jacques, primary, Singer, Christian F., primary, Song, Honglin, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, Sutphen, Rebecca, primary, Swerdlow, Anthony J., primary, Teixeira, Manuel R., primary, Teo, Soo H., primary, Thomassen, Mads, primary, Tischkowitz, Marc, primary, Toland, Amanda E., primary, Trichopoulou, Antonia, primary, Tung, Nadine, primary, Tworoger, Shelley S., primary, van Rensburg, Elizabeth J., primary, Vanderstichele, Adriaan, primary, Vega, Ana, primary, Edwards, Digna Velez, primary, Webb, Penelope M., primary, Weitzel, Jeffrey N., primary, Wentzensen, Nicolas, primary, White, Emily, primary, Wolk, Alicja, primary, Wu, Anna H., primary, Yannoukakos, Drakoulis, primary, Zorn, Kristin K., primary, Gayther, Simon A., primary, Antoniou, Antonis C., primary, Berchuck, Andrew, primary, Goode, Ellen L., primary, Chenevix-Trench, Georgia, primary, Sellers, Thomas A., primary, Pharoah, Paul D.P., primary, Zheng, Wei, primary, and Long, Jirong, primary

Published
2023
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48. Abstract P6-02-15: Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model

Author

De Nicolo, Arcangela, primary, Eccles, Diana M., additional, Ariansen, Sarah Louise, additional, Biancolella, Michela, additional, de la Hoya, Miguel, additional, Diez, Orland, additional, Ehrencrona, Hans, additional, Fostira, Florentia, additional, Hassan, Tiara, additional, Imoto, Issei, additional, Kowalik, Artur, additional, Lesueur, Fabienne, additional, Mensenkamp, Arjen R., additional, Nevanlinna, Heli, additional, Ngeow, Joanne, additional, Palmero, Edenir I., additional, Pedersen, Inge Søkilde, additional, Que, Frances, additional, Soukupová, Jana, additional, Tan, Yen, additional, Vega, Ana, additional, Spurdle, Amanda B., additional, and Radice, Paolo, additional

Published
2023
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49. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], JPND Courage-PD [sponsor], Sugier, Pierre-Emmanuel, Lucotte, Elise A., Domenighetti, Cloé, Law, Matthew H., Iles, Mark M., Brown, Kevin, Amos, Christopher, McKay, James D., Hung, Rayjean J., Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-François, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, consortium, The Epithyr, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj Reddy, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B., Hernandez, Dena G., Edsall, Connor, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E., Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P. C., Bloem, Bastiaan R., Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E., Morrison, Karen E., Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F., Farrer, Matt J., Krüger, Rejko, Gasser, Thomas, Sharma, Manu, Landoulsi, Zied, consortium, Courage-PD, Truong, Thérèse, Elbaz, Ales, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], JPND Courage-PD [sponsor], Sugier, Pierre-Emmanuel, Lucotte, Elise A., Domenighetti, Cloé, Law, Matthew H., Iles, Mark M., Brown, Kevin, Amos, Christopher, McKay, James D., Hung, Rayjean J., Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-François, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, consortium, The Epithyr, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj Reddy, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B., Hernandez, Dena G., Edsall, Connor, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E., Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P. C., Bloem, Bastiaan R., Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E., Morrison, Karen E., Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F., Farrer, Matt J., Krüger, Rejko, Gasser, Thomas, Sharma, Manu, Landoulsi, Zied, consortium, Courage-PD, Truong, Thérèse, and Elbaz, Ales

Abstract

Background Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods We used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses. Results We confirmed a previously reported positive genetic correlation of PD with melanoma (Gcorr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (Gcorr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly dri

Published
2023

50. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Author

Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, Robert Z., Dudziński, Marek, Garcia-Sanz, Ramon, Kruszewski, Marcin, Martinez-Lopez, Joaquin, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja I., Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Collado, Pilar Garrido, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Andersen, Niels Frost, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A.T., Zawirska, Daria, Ebbesen, Lene Hyldahl, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, Campa, Daniele, Dicanio, Marco, Giaccherini, Matteo, Clay-Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka-Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, Robert Z., Dudziński, Marek, Garcia-Sanz, Ramon, Kruszewski, Marcin, Martinez-Lopez, Joaquin, Beider, Katia, Iskierka-Jazdzewska, Elżbieta, Pelosini, Matteo, Berndt, Sonja I., Raźny, Małgorzata, Jamroziak, Krzysztof, Rajkumar, S. Vincent, Jurczyszyn, Artur, Vangsted, Annette Juul, Collado, Pilar Garrido, Vogel, Ulla, Hofmann, Jonathan N., Petrini, Mario, Butrym, Aleksandra, Slager, Susan L., Ziv, Elad, Subocz, Edyta, Giles, Graham G., Andersen, Niels Frost, Mazur, Grzegorz, Watek, Marzena, Lesueur, Fabienne, Hildebrandt, Michelle A.T., Zawirska, Daria, Ebbesen, Lene Hyldahl, Marques, Herlander, Gemignani, Federica, Dumontet, Charles, Várkonyi, Judit, Buda, Gabriele, Nagler, Arnon, Druzd-Sitek, Agnieszka, Wu, Xifeng, Kadar, Katalin, Camp, Nicola J., Grzasko, Norbert, Waller, Rosalie G., Vachon, Celine, Canzian, Federico, and Campa, Daniele

Abstract

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P < 5 × 10−8) with their respective trait. The selected SNPs were analyzed in 2434 MM cases and 3446 controls from the International Lymphoma Epidemiology Consortium (InterLymph). The 10 SNPs showing the strongest associations with MM risk in InterLymph were selected for replication in an independent set of 1955 MM cases and 1549 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and 418 MM cases and 147 282 controls from the FinnGen project. The combined analysis of the three studies identified an association between DNAJB4-rs34517439-A and an increased risk of developing MM (OR = 1.22, 95%CI 1.13-1.32, P = 4.81 × 10−7). rs34517439-A is associated with a modified expression of the FUBP1 gene, which encodes a multifunctional DNA and RNA-binding protein that it was observed to influence the regulation of various genes involved in cell cycle regulation, among which various oncogenes and oncosuppressors. In conclusion, with a pleiotropic scan approach we identified DNAJB4-rs34517439 as a potentially novel MM risk locus.

Published
2023

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