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2. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Author

Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., and Schaaf, Christian P.

Published
2022
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3. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, Mesman, Romy LS, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne MGR, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan JC, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, and Shrubsole, Martha

Subjects
Breast Cancer, Cancer, Genetics, 2.1 Biological and endogenous factors, Aetiology, Aged, Amino Acid Substitution, Animals, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, Female, Genotype, Germ-Line Mutation, Humans, Mice, Mutation, Missense, Risk, for kConFab/AOCS Investigators, for NBCS Collaborators, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789-99. ©2017 AACR.

Published
2017

4. Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Author

Pritzlaff, Mary, Summerour, Pia, McFarland, Rachel, Li, Shuwei, Reineke, Patrick, Dolinsky, Jill S, Goldgar, David E, Shimelis, Hermela, Couch, Fergus J, Chao, Elizabeth C, and LaDuca, Holly

Subjects
Adult, Aged, Aged, 80 and over, Breast Neoplasms, Male: diagnosis, epidemiology, genetics, Checkpoint Kinase 2: genetics, Cohort Studies, Fanconi Anemia Complementation Group N Protein: genetics, Gene Frequency, Genes, BRCA1, Genes, BRCA2, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing: methods, Genotype, Germ-Line Mutation, Humans, Male, Middle Aged, Mutation, Risk, Young Adult
Abstract

Genetic predisposition to male breast cancer (MBC) is not well understood. The aim of this study was to better define the predisposition genes contributing to MBC and the utility of germline multi-gene panel testing (MGPT) for explaining the etiology of MBCs.Clinical histories and molecular results were retrospectively reviewed for 715 MBC patients who underwent MGPT from March 2012 to June 2016.The detection rate of MGPT was 18.1% for patients tested for variants in 16 breast cancer susceptibility genes and with no prior BRCA1/2 testing. BRCA2 and CHEK2 were the most frequently mutated genes (11.0 and 4.1% of patients with no prior BRCA1/2 testing, respectively). Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10-16], CHEK2 (OR = 3.7; p = 6.24 × 10-24), and PALB2 (OR = 6.6, p = 0.01) were associated with significantly increased risks of MBC. The average age at diagnosis of MBC was similar for patients with (64 years) and without (62 years) pathogenic variants. CHEK2 1100delC carriers had a significantly lower average age of diagnosis (n = 7; 54 years) than all others with pathogenic variants (p = 0.03). No significant differences were observed between history of additional primary cancers (non-breast) and family history of male breast cancer for patients with and without pathogenic variants. However, patients with pathogenic variants in BRCA2 were more likely to have a history of multiple primary breast cancers.These data suggest that all MBC patients regardless of age of diagnosis, history of multiple primary cancers, or family history of MBC should be offered MGPT.

Published
2017

5. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Author

DeSpenza Jr, Tyrone, Singh, Amrita, Allington, Garrett, Shujuan Zhao, Junghoon Lee, Kiziltug, Emre, Prina, Mackenzi L., Desmet, Nicole, Dang, Huy Q., Fields, Jennifer, Nelson-Williams, Carol, Junhui Zhang, Mekbib, Kedous Y., Dennis, Evan, Mehta, Neel H., Duy, Phan Q., Shimelis, Hermela, Walsh, Lauren K., Marlier, Arnaud, and Deniz, Engin

Subjects
AUTISM spectrum disorders, CEREBRAL ventricles, GENETIC variation, HYDROCEPHALUS, MICROTUBULES, CHILDREN with autism spectrum disorders
Abstract

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD). KATNAL2, a member of Katanin family microtubule-severing ATPases, is a known ASD risk gene, but its roles in human brain development remain unclear. Here, we show that nonsense truncation of Katnal2 (Katnal2Δ17) in mice results in classic ciliopathy phenotypes, including impaired spermatogenesis and cerebral ventriculomegaly. In both humans and mice, KATNAL2 is highly expressed in ciliated radial glia of the fetal ventricular-subventricular zone as well as in their postnatal ependymal and neuronal progeny. The ventriculomegaly observed in Katnal2Δ17 mice is associated with disrupted primary cilia and ependymal planar cell polarity that results in impaired cilia-generated CSF flow. Further, prefrontal pyramidal neurons in ventriculomegalic Katnal2Δ17 mice exhibit decreased excitatory drive and reduced high-frequency firing. Consistent with these findings in mice, we identified rare, damaging heterozygous germline variants in KATNAL2 in five unrelated patients with neurosurgically treated CH and comorbid ASD or other neurodevelopmental disorders. Mice engineered with the orthologous ASD-associated KATNAL2 F244L missense variant recapitulated the ventriculomegaly found in human patients. Together, these data suggest KATNAL2 pathogenic variants alter intraventricular CSF homeostasis and parenchymal neuronal connectivity by disrupting microtubule dynamics in fetal radial glia and their postnatal ependymal and neuronal descendants. The results identify a molecular mechanism underlying the development of ventriculomegaly in a genetic subset of patients with ASD and may explain persistence of neurodevelopmental phenotypes in some patients with CH despite neurosurgical CSF shunting. [ABSTRACT FROM AUTHOR]

Published
2024
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7. De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly

Author

Allington, Garrett, primary, Mehta, Neel, additional, Dennis, Evan, additional, Mekbib, Kedous Y., additional, Reeves, Benjamin, additional, Kiziltug, Emre, additional, Chen, Shuang, additional, Zhao, Shujuan, additional, Walsh, Lauren, additional, Shimelis, Hermela, additional, Fan, Baojian, additional, Nelson-Williams, Carol, additional, Moreno De Luca, Andres, additional, Haider, Shozeb, additional, Lifton, Richard P., additional, Alper, Seth, additional, McGee, Stephen, additional, Jin, Sheng Chih, additional, and Kahle, Kristopher T., additional

Published
2024
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10. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Author

Singh, Amrita K, primary, Allington, Garrett, additional, Viviano, Stephen, additional, McGee, Stephen, additional, Kiziltug, Emre, additional, Ma, Shaojie, additional, Zhao, Shujuan, additional, Mekbib, Kedous Y, additional, Shohfi, John P, additional, Duy, Phan Q, additional, DeSpenza, Tyrone, additional, Furey, Charuta G, additional, Reeves, Benjamin C, additional, Smith, Hannah, additional, Sousa, André M M, additional, Cherskov, Adriana, additional, Allocco, August, additional, Nelson-Williams, Carol, additional, Haider, Shozeb, additional, Rizvi, Syed R A, additional, Alper, Seth L, additional, Sestan, Nenad, additional, Shimelis, Hermela, additional, Walsh, Lauren K, additional, Lifton, Richard P, additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kruszka, Paul, additional, Deniz, Engin, additional, and Kahle, Kristopher T, additional

Published
2023
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12. Supplementary Materials, Figure S1-S4, Table S1-S9 from Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Author

Hu, Chunling, primary, Nagaraj, Anil Belur, primary, Shimelis, Hermela, primary, Montalban, Gemma, primary, Lee, Kun Y., primary, Huang, Huaizhi, primary, Lumby, Carolyn A., primary, Na, Jie, primary, Susswein, Lisa R., primary, Roberts, Maegan E., primary, Marshall, Megan L., primary, Hiraki, Susan, primary, LaDuca, Holly, primary, Chao, Elizabeth, primary, Yussuf, Amal, primary, Pesaran, Tina, primary, Neuhausen, Susan L., primary, Haiman, Christopher A., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Palmer, Julie R., primary, Teras, Lauren R., primary, Vachon, Celine M., primary, Yao, Song, primary, Ong, Irene, primary, Nathanson, Katherine L., primary, Weitzel, Jeffrey N., primary, Boddicker, Nicholas, primary, Gnanaolivu, Rohan, primary, Polley, Eric C., primary, Mer, Georges, primary, Cui, Gaofeng, primary, Karam, Rachid, primary, Richardson, Marcy E., primary, Domchek, Susan M., primary, Yadav, Siddhartha, primary, Hruska, Kathleen S., primary, Dolinsky, Jill, primary, Weroha, S. John, primary, Hart, Steven N., primary, Simard, Jacques, primary, Masson, Jean Yves, primary, Pang, Yuan-Ping, primary, and Couch, Fergus J., primary

Published
2023
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13. Data from Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Author

Hu, Chunling, primary, Nagaraj, Anil Belur, primary, Shimelis, Hermela, primary, Montalban, Gemma, primary, Lee, Kun Y., primary, Huang, Huaizhi, primary, Lumby, Carolyn A., primary, Na, Jie, primary, Susswein, Lisa R., primary, Roberts, Maegan E., primary, Marshall, Megan L., primary, Hiraki, Susan, primary, LaDuca, Holly, primary, Chao, Elizabeth, primary, Yussuf, Amal, primary, Pesaran, Tina, primary, Neuhausen, Susan L., primary, Haiman, Christopher A., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Palmer, Julie R., primary, Teras, Lauren R., primary, Vachon, Celine M., primary, Yao, Song, primary, Ong, Irene, primary, Nathanson, Katherine L., primary, Weitzel, Jeffrey N., primary, Boddicker, Nicholas, primary, Gnanaolivu, Rohan, primary, Polley, Eric C., primary, Mer, Georges, primary, Cui, Gaofeng, primary, Karam, Rachid, primary, Richardson, Marcy E., primary, Domchek, Susan M., primary, Yadav, Siddhartha, primary, Hruska, Kathleen S., primary, Dolinsky, Jill, primary, Weroha, S. John, primary, Hart, Steven N., primary, Simard, Jacques, primary, Masson, Jean Yves, primary, Pang, Yuan-Ping, primary, and Couch, Fergus J., primary

Published
2023
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15. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Author

Hu, Chunling, primary, Nagaraj, Anil Belur, additional, Shimelis, Hermela, additional, Montalban, Gemma, additional, Lee, Kun Y., additional, Huang, Huaizhi, additional, Lumby, Carolyn A., additional, Na, Jie, additional, Susswein, Lisa R., additional, Roberts, Maegan E., additional, Marshall, Megan L., additional, Hiraki, Susan, additional, LaDuca, Holly, additional, Chao, Elizabeth, additional, Yussuf, Amal, additional, Pesaran, Tina, additional, Neuhausen, Susan L., additional, Haiman, Christopher A., additional, Kraft, Peter, additional, Lindstrom, Sara, additional, Palmer, Julie R., additional, Teras, Lauren R., additional, Vachon, Celine M., additional, Yao, Song, additional, Ong, Irene, additional, Nathanson, Katherine L., additional, Weitzel, Jeffrey N., additional, Boddicker, Nicholas, additional, Gnanaolivu, Rohan, additional, Polley, Eric C., additional, Mer, Georges, additional, Cui, Gaofeng, additional, Karam, Rachid, additional, Richardson, Marcy E., additional, Domchek, Susan M., additional, Yadav, Siddhartha, additional, Hruska, Kathleen S., additional, Dolinsky, Jill, additional, Weroha, S. John, additional, Hart, Steven N., additional, Simard, Jacques, additional, Masson, Jean Yves, additional, Pang, Yuan-Ping, additional, and Couch, Fergus J., additional

Published
2023
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16. Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
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17. Data from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
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18. Supplementary Figures from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
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19. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

Author

Singh, Amrita, primary, Viviano, Stephen, additional, Allington, Garrett, additional, McGee, Stephen, additional, Kiziltug, Emre, additional, Mekbib, Kedous, additional, Shohfi, John, additional, Duy, Phan, additional, DeSpenza, Tyrone, additional, Furey, Charuta, additional, Reeves, Benjamin, additional, Smith, Hannah, additional, Ma, Shaojie, additional, Sousa, Andre M. M., additional, Cherskov, Adriana, additional, Allocco, August, additional, Nelson-Williams, Carol, additional, Haider, Shozeb, additional, Rizvi, Syed R. A., additional, Alper, Seth, additional, Sestan, Nenad, additional, Shimelis, Hermela, additional, Walsh, Lauren K., additional, Lifton, Richard P., additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kruszka, Paul, additional, Deniz, Engin, additional, and Kahle, Kristopher, additional

Published
2023
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20. Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

Author

DeSpenza, Tyrone, primary, Kiziltug, Emre, additional, Allington, Garrett, additional, Barson, Daniel, additional, O'Connor, David, additional, Robert, Stephanie M., additional, Mekbib, Kedous Y., additional, Nanda, Pranav, additional, Greenberg, Ana, additional, Singh, Amrita, additional, Duy, Phan Q., additional, Mandino, Francesca, additional, Zhao, Shujuan, additional, Lynn, Anna, additional, Reeves, Benjamin C., additional, Marlier, Arnaud, additional, Getz, Stephanie A., additional, Nelson-Williams, Carol, additional, Shimelis, Hermela, additional, Zhang, Jinhui, additional, Walsh, Lauren K., additional, Wang, Wei, additional, Smith, Hannah, additional, OuYang, Annaliese, additional, Deniz, Engin, additional, Lake, Evelyn, additional, Jin, Sheng Chih, additional, Luikart, Bryan W., additional, and Kahle, Kristopher T., additional

Published
2023
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24. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Author

Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guénel, Pascal, Truong, Thérèse, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, González-Neira, Anna, Osorio, Ana, Hoya, Miguel de la, Segura, Pedro Perez, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A., Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud, Brüning, Thomas, Blomqvist, Carl, Khan, Sofia, Nevanlinna, Heli, Pelttari, Liisa M., Aittomäki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether, Neven, Patrick, Claes, Kathleen B. M., Maerken, Tom Van, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian, Varon-Mateeva, Raymonda, Peterlongo, Paolo, Radice, Paolo, Viel, Alessandra, Barile, Monica, Peissel, Bernard, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line, Bandera, Elisa V., Risch, Harvey, Zheng, Wei, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkäs, Katri, Tollenaar, Robert A. E. M., Ouweland, Ans M. W. van der, Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., García-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain, Siddiquil, Nadeem, Glasspool, Rosalind, Kwong, Ava, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro, Hosono, Satoyo, Woo, Yin Ling, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei, Borg, Ake, Öfverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta, Moes-Sosnowska, Joanna, Fostira, Florentia, Konstantopoulou, Irene, Slager, Susan, Jones, Michael, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony, Chenevix-Trench, Georgia, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B., and Goldgar, David E.

Published
2016
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25. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

Author

Minguillón Pedreño, Jordi, Ramírez de Haro, Ma. José, Rovirosa Mulet, Llorenç, Bustamante-Madrid, Pilar, Camps-Fajol, Cristina, de Garibay, Gorka Ruiz, Shimelis, Hermela, Montanuy Escribano, Helena, Pujol, Roser, Hernandez, Gonzalo, Bogliolo, Massimo, Castillo, Pau, Soucy, Penny, Martrat, Griselda, Gómez Moruno, Antonio, Cuadras, Daniel, García, Maria J., Gayarre, Javier, Lázaro Garcia, Conxi, Benítez, Javier, Couch, Fergus J., Pujana, Miquel Ángel, Surrallés i Calonge, Jordi, Minguillón Pedreño, Jordi, Ramírez de Haro, Ma. José, Rovirosa Mulet, Llorenç, Bustamante-Madrid, Pilar, Camps-Fajol, Cristina, de Garibay, Gorka Ruiz, Shimelis, Hermela, Montanuy Escribano, Helena, Pujol, Roser, Hernandez, Gonzalo, Bogliolo, Massimo, Castillo, Pau, Soucy, Penny, Martrat, Griselda, Gómez Moruno, Antonio, Cuadras, Daniel, García, Maria J., Gayarre, Javier, Lázaro Garcia, Conxi, Benítez, Javier, Couch, Fergus J., Pujana, Miquel Ángel, and Surrallés i Calonge, Jordi

Abstract

BRCA2 is essential for homologous recombination DNA repair. BRCA2 mutations lead to genome instability and increased risk of breast and ovarian cancer. Similarly, mutations in BRCA2-interacting proteins are also known to modulate sensitivity to DNA damage agents and are established cancer risk factors. Here we identify the tumor suppressor CDK5RAP3 as a novel BRCA2 helical domain-interacting protein. CDK5RAP3 depletion induced DNA damage resistance, homologous recombination and single-strand annealing upregulation, and reduced spontaneous and DNA damage-induced genomic instability, suggesting that CDK5RAP3 negatively regulates double-strand break repair in the S-phase. Consistent with this cellular phenotype, analysis of transcriptomic data revealed an association between low CDK5RAP3 tumor expression and poor survival of breast cancer patients. Finally, we identified common genetic variations in the CDK5RAP3 locus as potentially associated with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Our results uncover CDK5RAP3 as a critical player in DNA repair and breast cancer outcomes.

Published
2022

29. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

Author

Minguillón, Jordi, Ramírez, María José, Rovirosa, Llorenç, Bustamante Madrid, Pilar, Camps Fajol, Cristina, Ruiz de Garibay, Gorka, Shimelis, Hermela, Montanuy, Helena, Pujol, Roser, Hernandez, Gonzalo, Bogliolo, Massimo, Castillo, Pau, Soucy, Penny, Martrat, Griselda, Gómez, Antonio, Cuadras, Daniel, García, María J., Gayarre, Javier, Lázaro, Conxi, Benítez, Javier, Couch, Fergus J., Pujana, Miquel Angel, Surrallés, Jordi, and CIMBA Consortium

Subjects
Cancer Research, endocrine system diseases, BRCA2, breast cancer, CDK5RAP3, DNA repair, chemoresistance, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Article, Càncer de mama, Breast cancer, Oncology, Genetics, skin and connective tissue diseases, Chemoresistance, RC254-282, Genètica
Abstract

Simple Summary BRCA2 is an essential gene for DNA repair by homologous recombination and is often mutated in families at risk of breast and ovarian cancer. In this study we identified CDK5RAP3 tumor suppressor as a new BRCA2-interacting protein. CDK5RAP3 negatively regulates DNA repair of double-strand breaks, providing a new mechanism of DNA damage resistance. Consistently, gene expression data analysis showed CDK5RAP3 overexpression in breast cancer is associated with poorer survival. Finally, we identified common genetic variations in the CDK5RAP3 locus as potentially associated with breast and ovarian cancer risk in a large cohort of BRCA1 and BRCA2 mutation carriers. Abstract BRCA2 is essential for homologous recombination DNA repair. BRCA2 mutations lead to genome instability and increased risk of breast and ovarian cancer. Similarly, mutations in BRCA2-interacting proteins are also known to modulate sensitivity to DNA damage agents and are established cancer risk factors. Here we identify the tumor suppressor CDK5RAP3 as a novel BRCA2 helical domain-interacting protein. CDK5RAP3 depletion induced DNA damage resistance, homologous recombination and single-strand annealing upregulation, and reduced spontaneous and DNA damage-induced genomic instability, suggesting that CDK5RAP3 negatively regulates double-strand break repair in the S-phase. Consistent with this cellular phenotype, analysis of transcriptomic data revealed an association between low CDK5RAP3 tumor expression and poor survival of breast cancer patients. Finally, we identified common genetic variations in the CDK5RAP3 locus as potentially associated with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Our results uncover CDK5RAP3 as a critical player in DNA repair and breast cancer outcomes.

Published
2022

36. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

Author

Yadav, Siddhartha, primary, LaDuca, Holly, additional, Polley, Eric C, additional, Hu, Chunling, additional, Niguidula, Nancy, additional, Shimelis, Hermela, additional, Lilyquist, Jenna, additional, Na, Jie, additional, Lee, Kun Y, additional, Gutierrez, Stephanie, additional, Yussuf, Amal, additional, Hart, Steven N, additional, Davis, Brigette Tippin, additional, Chao, Elizabeth C, additional, Pesaran, Tina, additional, Goldgar, David E, additional, Dolinsky, Jill S, additional, and Couch, Fergus J, additional

Published
2020
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37. The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

Author

Hu, Chunling, primary, Polley, Eric C, additional, Yadav, Siddhartha, additional, Lilyquist, Jenna, additional, Shimelis, Hermela, additional, Na, Jie, additional, Hart, Steven N, additional, Goldgar, David E, additional, Shah, Swati, additional, Pesaran, Tina, additional, Dolinsky, Jill S, additional, LaDuca, Holly, additional, and Couch, Fergus J, additional

Published
2020
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38. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.

Author

Yadav, Siddhartha, LaDuca, Holly, Polley, Eric C, Hu, Chunling, Niguidula, Nancy, Shimelis, Hermela, Lilyquist, Jenna, Na, Jie, Lee, Kun Y, Gutierrez, Stephanie, Yussuf, Amal, Hart, Steven N, Davis, Brigette Tippin, Chao, Elizabeth C, Pesaran, Tina, Goldgar, David E, Dolinsky, Jill S, and Couch, Fergus J

Subjects
ETHNIC differences, BREAST cancer, RACIAL differences, HEREDITARY cancer syndromes, ODDS ratio
Abstract

To evaluate the racial and ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race and ethnicity on breast cancer (BC) risk among carriers, results of multigene testing of 77 900 women with BC (non-Hispanic White [NHW] = 57 003; Ashkenazi-Jewish = 4798; Black = 6722; Hispanic = 5194; and Asian = 4183) were analyzed, and the frequency of PVs in each gene were compared between BC patients (cases) and race- and ethnicity-matched gnomAD reference controls. Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P < .05). In case-control studies, BARD1 PVs were associated with high risks (odds ratio > 4.00) of BC in Blacks, Hispanics, and Asians; ATM PVs were associated with increased risk of BC among all races and ethnicities except Asians, whereas CHEK2 and BRIP1 PVs were associated with increased risk of BC among NHWs and Hispanics only. These findings suggest a need for personalized management of BC risk in PV carriers based on race and ethnicity. [ABSTRACT FROM AUTHOR]

Published
2021
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39. Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients.

Author

Yadav, Siddhartha, primary, LaDuca, Holly, additional, Polley, Eric, additional, Shimelis, Hermela, additional, Niguidula, Nancy, additional, Hu, Chunling, additional, Lilyquist, Jenna, additional, Na, Jie, additional, Lee, Kun, additional, Gutierrez, Stephanie, additional, Yussuf, Amal, additional, Hart, Steven, additional, Tippin Davis, Brigette, additional, Chao, Elizabeth, additional, Pesaran, Tina, additional, Goldgar, David, additional, Dolinsky, Jill S., additional, and Couch, Fergus, additional

Published
2019
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40. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author

Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garciá-Saénz, José A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Mac Hteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai Ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria Isabel, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Medical Oncology, Internal Medicine, Obstetrics & Gynecology, MUMC+: DA KG Lab Centraal Lab (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
0301 basic medicine, Oncology, Estrogen receptor, Genome-wide association study, consortium, Gene mutation, DISEASE, Breast cancer, Risk Factors, Receptors, common variants, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, ovarian cancers, BRCA1 Protein, COMMON VARIANTS, Single Nucleotide, OVARIAN CANCERS, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Receptors, Estrogen, functional variants, Female, estrogen receptor, SNPs, EXPRESSION, medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Breast cancer, estrogen receptor, SNPs, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, expression, medicine, Genetic predisposition, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, Risk factor, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, disease, CONSORTIUM, Case-control study, Biology and Life Sciences, medicine.disease, confer susceptibility, Estrogen, susceptibility loci, 030104 developmental biology, Mutation, genome-wide association, brca2 mutation carriers, Genome-Wide Association Study
Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Published
2017
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41. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

Author

Hu, Chunling, primary, LaDuca, Holly, additional, Shimelis, Hermela, additional, Polley, Eric C., additional, Lilyquist, Jenna, additional, Hart, Steven N., additional, Na, Jie, additional, Thomas, Abigail, additional, Lee, Kun Y., additional, Davis, Brigette Tippin, additional, Black, Mary Helen, additional, Pesaran, Tina, additional, Goldgar, David E., additional, Dolinsky, Jill S., additional, and Couch, Fergus J., additional

Published
2018
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42. BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study

Author

Fasching, Peter A., primary, Loibl, Sibylle, additional, Hu, Chunling, additional, Hart, Steven N., additional, Shimelis, Hermela, additional, Moore, Raymond, additional, Schem, Christian, additional, Tesch, Hans, additional, Untch, Michael, additional, Hilfrich, Jörn, additional, Rezai, Mahdi, additional, Gerber, Bernd, additional, Costa, Serban Dan, additional, Blohmer, Jens-Uwe, additional, Fehm, Tanja, additional, Huober, Jens, additional, Liedtke, Cornelia, additional, Weinshilboum, Richard M., additional, Wang, Liewei, additional, Ingle, James N., additional, Müller, Volkmar, additional, Nekljudova, Valentina, additional, Weber, Karsten E., additional, Rack, Brigitte, additional, Rübner, Matthias, additional, von Minckwitz, Gunter, additional, and Couch, Fergus J., additional

Published
2018
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43. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

Author

Shimelis, Hermela, primary, LaDuca, Holly, additional, Hu, Chunling, additional, Hart, Steven N, additional, Na, Jie, additional, Thomas, Abigail, additional, Akinhanmi, Margaret, additional, Moore, Raymond M, additional, Brauch, Hiltrud, additional, Cox, Angela, additional, Eccles, Diana M, additional, Ewart-Toland, Amanda, additional, Fasching, Peter A, additional, Fostira, Florentia, additional, Garber, Judy, additional, Godwin, Andrew K, additional, Konstantopoulou, Irene, additional, Nevanlinna, Heli, additional, Sharma, Priyanka, additional, Yannoukakos, Drakoulis, additional, Yao, Song, additional, Feng, Bing-Jian, additional, Tippin Davis, Brigette, additional, Lilyquist, Jenna, additional, Pesaran, Tina, additional, Goldgar, David E, additional, Polley, Eric C, additional, Dolinsky, Jill S, additional, and Couch, Fergus J, additional

Published
2018
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44. Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status

Author

Antwi, Samuel O, primary, Fagan, Sarah E, additional, Chaffee, Kari G, additional, Bamlet, William R, additional, Hu, Chunling, additional, Polley, Eric C, additional, Hart, Steven N, additional, Shimelis, Hermela, additional, Lilyquist, Jenna, additional, Gnanaolivu, Rohan D, additional, McWilliams, Robert R, additional, Oberg, Ann L, additional, Couch, Fergus J, additional, and Petersen, Gloria M, additional

Published
2018
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45. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

Author

Hu, Chunling, primary, Hart, Steven N., additional, Polley, Eric C., additional, Gnanaolivu, Rohan, additional, Shimelis, Hermela, additional, Lee, Kun Y., additional, Lilyquist, Jenna, additional, Na, Jie, additional, Moore, Raymond, additional, Antwi, Samuel O., additional, Bamlet, William R., additional, Chaffee, Kari G., additional, DiCarlo, John, additional, Wu, Zhong, additional, Samara, Raed, additional, Kasi, Pashtoon M., additional, McWilliams, Robert R., additional, Petersen, Gloria M., additional, and Couch, Fergus J., additional

Published
2018
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47. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Author

Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, 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Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Published
2017
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