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1. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Author: O’Mahony, Denise G, Ramus, Susan J, Southey, Melissa C, Meagher, Nicola S, Hadjisavvas, Andreas, John, Esther M, Hamann, Ute, Imyanitov, Evgeny N, Andrulis, Irene L, Sharma, Priyanka, Daly, Mary B, Hake, Christopher R, Weitzel, Jeffrey N, Jakubowska, Anna, Godwin, Andrew K, Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A, Mai, Phuong L, Claes, Kathleen BM, Teixeira, Manuel R, Chung, Wendy K, Lazaro, Conxi, Hulick, Peter J, Toland, Amanda E, Pedersen, Inge Sokilde, Neuhausen, Susan L, Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A, Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L, Domchek, Susan M, Osorio, Ana, García, María J, Karlan, Beth Y, De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T, Dörk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André BA, Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K, Wappenschmidt, Barbara, Easton, Douglas F, Tischkowitz, Marc, Singer, Christian F, Tan, Yen Yen, Whittemore, Alice S, Sieh, Weiva, Brenton, James D, Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul DP, Antoniou, Antonis C, Goldgar, David E, Spurdle, Amanda B, and Michailidou, Kyriaki
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Cancer, Breast Cancer, Genetics, Ovarian Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Female, Virulence, BRCA1 Protein, BRCA2 Protein, Ovarian Neoplasms, Genetic Predisposition to Disease, Breast Neoplasms, HEBON Investigators, GEMO Study Collaborators, AOCS Group, CZECANCA Consortium, Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.
Published: 2023

2. 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. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

Author: Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei-Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji-Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke-Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Gronwald, Jacek, Haiman, Christopher A., Håkansson, Niclas, Heitz, Florian, Hildebrandt, Michelle A.T., Høgdall, Estrid, Høgdall, Claus K., Huang, Ruea-Yea, Jensen, Allan, Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony N., Kelemen, Linda E., Kennedy, Catherine J., Khusnutdinova, Elza K., Kiemeney, Lambertus A., Kjaer, Susanne K., Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Le, Nhu D., Lester, Jenny, Li, Lian, Lubiński, Jan, Lush, Michael, Marks, Jeffrey R., Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Missmer, Stacey, Modugno, Francesmary, Moffitt, Melissa, Monteiro, Alvaro N., Moysich, Kirsten B., Narod, Steven A., Nguyen-Dumont, Tu, Odunsi, Kunle, Olsson, Håkan, Onland-Moret, N. Charlotte, Park, Sue K., Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Shan, Kang, Song, Honglin, Southey, Melissa C., Steed, Helen, Sutphen, Rebecca, Swerdlow, Anthony J., Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Vestrheim Thomsen, Liv Cecilie, Titus, Linda, Trabert, Britton, Travis, Ruth, Tworoger, Shelley S., Valen, Ellen, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Ziogas, Argyrios, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Pearce, Celeste L., Ramus, Susan J., Sellers, Thomas A., Freedman, Matthew L., Lawrenson, Kate, Schildkraut, Joellen M., Hazelett, Dennis, Plummer, Jasmine T., Kar, Siddhartha, Jones, Michelle R., Pharoah, Paul D.P., and Gayther, Simon A.
Published: 2024
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4. 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

5. Author Correction: 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, Heko, 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 BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, 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 BL, Hollestelle, Antoinette, and Hopper, John L
Subjects: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Cancer
Abstract: A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.
Published: 2021

6. 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 BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, 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 BL, Hollestelle, Antoinette, and Hopper, John L
Subjects: GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Genotype, Linkage Disequilibrium, Mutation, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Middle Aged, Female, Genome-Wide Association Study, Breast Cancer, Prevention, Cancer, Genetic Testing, Human Genome, Genetics, 2.1 Biological and endogenous factors
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P
Published: 2021

7. Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers

Author: Glubb, Dylan M, Thompson, Deborah J, Aben, Katja KH, Alsulimani, Ahmad, Amant, Frederic, Annibali, Daniela, Attia, John, Barricarte, Aurelio, Beckmann, Matthias W, Berchuck, Andrew, Bermisheva, Marina, Bernardini, Marcus Q, Bischof, Katharina, Bjorge, Line, Bodelon, Clara, Brand, Alison H, Brenton, James D, Brinton, Louise A, Bruinsma, Fiona, Buchanan, Daniel D, Burghaus, Stefanie, Butzow, Ralf, Cai, Hui, Carney, Michael E, Chanock, Stephen J, Chen, Chu, Chen, Xiao Qing, Chen, Zhihua, Cook, Linda S, Cunningham, Julie M, De Vivo, Immaculata, deFazio, Anna, Doherty, Jennifer A, Dörk, Thilo, du Bois, Andreas, Dunning, Alison M, Dürst, Matthias, Edwards, Todd, Edwards, Robert P, Ekici, Arif B, Ewing, Ailith, Fasching, Peter A, Ferguson, Sarah, Flanagan, James M, Fostira, Florentia, Fountzilas, George, Friedenreich, Christine M, Gao, Bo, Gaudet, Mia M, Gawełko, Jan, Gentry-Maharaj, Aleksandra, Giles, Graham G, Glasspool, Rosalind, Goodman, Marc T, Gronwald, Jacek, Harris, Holly R, Harter, Philipp, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle AT, Hillemanns, Peter, Høgdall, Estrid, Høgdall, Claus K, Holliday, Elizabeth G, Huntsman, David G, Huzarski, Tomasz, Jakubowska, Anna, Jensen, Allan, Jones, Michael E, Karlan, Beth Y, Karnezis, Anthony, Kelley, Joseph L, Khusnutdinova, Elza, Killeen, Jeffrey L, Kjaer, Susanne K, Klapdor, Rüdiger, Köbel, Martin, Konopka, Bozena, Konstantopoulou, Irene, Kopperud, Reidun K, Koti, Madhuri, Kraft, Peter, Kupryjanczyk, Jolanta, Lambrechts, Diether, Larson, Melissa C, Le Marchand, Loic, Lele, Shashikant, Lester, Jenny, Li, Andrew J, Liang, Dong, Liebrich, Clemens, Lipworth, Loren, Lissowska, Jolanta, Lu, Lingeng, Lu, Karen H, Macciotta, Alessandra, Mattiello, Amalia, May, Taymaa, McAlpine, Jessica N, and McGuire, Valerie
Subjects: Epidemiology, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Human Genome, Uterine Cancer, Genetics, Biotechnology, Ovarian Cancer, Prevention, Cancer, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Carcinoma, Ovarian Epithelial, Endometrial Neoplasms, Female, Genome-Wide Association Study, Humans, Ovarian Neoplasms, Quantitative Trait Loci, Risk Factors, OPAL Study Group, AOCS Group, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundAccumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers.MethodsUsing LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer. To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e., inverse-variance meta-analysis, colocalization, and M-values) and performed analyses stratified by subtype. Candidate target genes were then prioritized using functional genomic data.ResultsGenetic correlation analysis revealed significant genetic correlation between the two cancers (rG = 0.43, P = 2.66 × 10-5). We found seven loci associated with risk for both cancers (P Bonferroni < 2.4 × 10-9). In addition, four novel subgenome-wide regions at 7p22.2, 7q22.1, 9p12, and 11q13.3 were identified (P < 5 × 10-7). Promoter-associated HiChIP chromatin loops from immortalized endometrium and ovarian cell lines and expression quantitative trait loci data highlighted candidate target genes for further investigation.ConclusionsUsing cross-cancer GWAS meta-analysis, we have identified several joint endometrial and ovarian cancer risk loci and candidate target genes for future functional analysis.ImpactOur research highlights the shared genetic relationship between endometrial cancer and ovarian cancer. Further studies in larger sample sets are required to confirm our findings.
Published: 2021

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

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

9. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Author: Feng, Helian, Gusev, Alexander, Pasaniuc, Bogdan, Wu, Lang, Long, Jirong, Abu‐full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L, Anton‐Culver, Hoda, Antoniou, Antonis C, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canisius, Sander, Campa, Daniele, Carter, Brian D, Carter, Jonathan, Castelao, Jose E, Chang‐Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Collaborators, GEMO Study, Collaborators, EMBRACE, Collaborators, GC‐HBOC study, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, De Leeneer, Kim, Dennis, Joe, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, dos‐Santos‐Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García‐Closas, Montserrat, García‐Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González‐Neira, Anna, and Greene, Mark H
Subjects: Biological Sciences, Health Sciences, Genetics, Cancer, Biotechnology, Prevention, Clinical Research, Human Genome, Estrogen, Breast Cancer, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Estrogens, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Receptors, Estrogen, Risk Assessment, Transcriptome, Vesicular Transport Proteins, breast cancer subtype, causal gene, GWAS, TWAS, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Public Health and Health Services, Epidemiology
Abstract: Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.
Published: 2020

10. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Author: Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni, Bolla, Manjeet K, Dunning, Alison M, Dennis, Joe, Wang, Qin, Ful, Zumuruda Abu, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auer, Paul L, Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byers, Helen, Caldés, Trinidad, Caligo, Maria A, Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Häberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hake, Christopher R, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, and Hillemanns, Peter
Subjects: kConFab Investigators, ABCTB Investigators, EMBRACE Study, GEMO Study Collaborators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, Case-Control Studies, Linkage Disequilibrium, Mutation, Female, Genome-Wide Association Study, Triple Negative Breast Neoplasms, Human Genome, Cancer, Prevention, Genetics, Breast Cancer, 2.1 Biological and endogenous factors, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P
Published: 2020

11. Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

Author: Glubb, Dylan M, Thompson, Deborah J, Aben, Katja KH, Alsulimani, Ahmad, Amant, Frederic, Annibali, Daniela, Attia, John, Barricarte, Aurelio, Beckmann, Matthias W, Berchuck, Andrew, Bermisheva, Marina, Bernardini, Marcus Q, Bischof, Katharina, Bjorge, Line, Bodelon, Clara, Brand, Alison H, Brenton, James D, Brinton, Louise, Bruinsma, Fiona, Buchanan, Daniel D, Burghaus, Stefanie, Butzow, Ralf, Cai, Hui, Carney, Michael E, Chanock, Stephen J, Chen, Chu, Chen, Xiao Qing, Chen, Zhihua, Cook, Linda S, Cunningham, Julie M, De Vivo, Immaculata, deFazio, Anna, Doherty, Jennifer A, Dörk, Thilo, du Bois, Andreas, Dunning, Alison M, Dürst, Matthias, Edwards, Todd, Edwards, Robert P, Ekici, Arif B, Ewing, Ailith, Fasching, Peter A, Ferguson, Sarah, Flanagan, James M, Fostira, Florentia, Fountzilas, George, Friedenreich, Christine M, Gao, Bo, Gaudet, Mia M, Gawełko, Jan, Gentry-Maharaj, Aleksandra, Giles, Graham G, Glasspool, Rosalind, Goodman, Marc T, Gronwald, Jacek, Group, OPAL Study, Group, AOCS, Harris, Holly R, Harter, Philipp, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle AT, Hillemanns, Peter, Høgdall, Estrid, Høgdall, Claus K, Holliday, Elizabeth G, Huntsman, David G, Huzarski, Tomasz, Jakubowska, Anna, Jensen, Allan, Jones, Michael E, Karlan, Beth Y, Karnezis, Anthony, Kelley, Joseph L, Khusnutdinova, Elza, Killeen, Jeffrey L, Kjaer, Susanne K, Klapdor, Rüdiger, Köbel, Martin, Konopka, Bozena, Konstantopoulou, Irene, Kopperud, Reidun K, Koti, Madhuri, Kraft, Peter, Kupryjanczyk, Jolanta, Lambrechts, Diether, Larson, Melissa C, Le Marchand, Loic, Lele, Shashikant B, Lester, Jenny, Li, Andrew J, Liang, Dong, Liebrich, Clemens, Lipworth, Loren, Lissowska, Jolanta, Lu, Lingeng, Lu, Karen H, Macciotta, Alessandra, Mattiello, Amalia, and May, Taymaa
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Statistics, Mathematical Sciences, Oncology and Carcinogenesis, Aging, Rare Diseases, Human Genome, Cancer, Uterine Cancer, Ovarian Cancer, Prevention, Biotechnology, Aetiology, 2.1 Biological and endogenous factors
Abstract: Abstract: Accumulating evidence suggests a relationship between endometrial cancer and epithelial ovarian cancer. For example, endometrial cancer and epithelial ovarian cancer share epidemiological risk factors and molecular features observed across histotypes are held in common (e.g. serous, endometrioid and clear cell). Independent genome-wide association studies (GWAS) for endometrial cancer and epithelial ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. Using GWAS summary statistics, we explored the shared genetic etiology between endometrial cancer and epithelial ovarian cancer. Genetic correlation analysis using LD Score regression revealed significant genetic correlation between the two cancers (rG = 0.43, P = 2.66 × 10−5). To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e. inverse-variance meta-analysis, co-localization, and M-values), and performed analyses by stratified by subtype. We found seven loci associated with risk for both cancers (PBonferroni < 2.4 × 10−9). In addition, four novel regions at 7p22.2, 7q22.1, 9p12 and 11q13.3 were identified at a sub-genome wide threshold (P < 5 × 10−7). Integration with promoter-associated HiChIP chromatin loops from immortalized endometrium and epithelial ovarian cell lines, and expression quantitative trait loci (eQTL) data highlighted candidate target genes for further investigation.
Published: 2020

12. Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece

Author: Fountzilas, Elena, Apostolou, Paraskevi, Vasiliadis, Angelo V., Aivazi, Dimitra, Saloustros, Emmanouil, and Fostira, Florentia
Published: 2022
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13. Publisher Correction: Shared heritability and functional enrichment across six solid cancers.

Author: Jiang, Xia, Finucane, Hilary K, Schumacher, Fredrick R, Schmit, Stephanie L, Tyrer, Jonathan P, Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B, Dennis, Joe, Conti, David V, Casey, Graham, Gaudet, Mia M, Huyghe, Jeroen R, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline S, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Antonenkova, Natalia N, Arnold, Susanne M, Aronson, Kristan J, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Batra, Jyotsna, Beckmann, Matthias W, Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I, Bickeböller, Heike, Bien, Stephanie A, Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brenton, James D, Brook, Mark N, Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D, Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Campbell, Peter T, Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Christiani, David C, Claes, Kathleen BM, Claessens, Frank, Clements, Judith, Collée, J Margriet, Correa, Marcia Cruz, Couch, Fergus J, Cox, Angela, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, deFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L, Dörk, Thilo, Duell, Eric J, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Edlund, Christopher K, Edwards, Digna R Velez, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Ferris, Robert L, Liloglou, Triantafillos, Figueiredo, Jane C, Fletcher, Olivia, Fortner, Renée T, Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J, and Ganz, Patricia A
Subjects: MD Multidisciplinary
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2019

14. Shared heritability and functional enrichment across six solid cancers.

Author: Jiang, Xia, Finucane, Hilary K, Schumacher, Fredrick R, Schmit, Stephanie L, Tyrer, Jonathan P, Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B, Dennis, Joe, Conti, David V, Casey, Graham, Gaudet, Mia M, Huyghe, Jeroen R, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline S, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Antonenkova, Natalia N, Arnold, Susanne M, Aronson, Kristan J, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Batra, Jyotsna, Beckmann, Matthias W, Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I, Bickeböller, Heike, Bien, Stephanie A, Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brenton, James D, Brook, Mark N, Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D, Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Campbell, Peter T, Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Christiani, David C, Claes, Kathleen BM, Claessens, Frank, Clements, Judith, Collée, J Margriet, Correa, Marcia Cruz, Couch, Fergus J, Cox, Angela, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, deFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L, Dörk, Thilo, Duell, Eric J, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Edlund, Christopher K, Edwards, Digna R Velez, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Ferris, Robert L, Liloglou, Triantafillos, Figueiredo, Jane C, Fletcher, Olivia, Fortner, Renée T, Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J, and Ganz, Patricia A
Subjects: Humans, Breast Neoplasms, Colorectal Neoplasms, Ovarian Neoplasms, Head and Neck Neoplasms, Lung Neoplasms, Prostatic Neoplasms, Genetic Predisposition to Disease, Neoplasm Proteins, Case-Control Studies, Smoking, Mental Disorders, Inheritance Patterns, Phenotype, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Prevention, Cancer, Breast Cancer, Genetics, Rare Diseases, Lung Cancer, Human Genome, Colo-Rectal Cancer, Digestive Diseases, Lung, MD Multidisciplinary
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10-8), breast and ovarian cancer (rg = 0.24, p = 7 × 10-5), breast and lung cancer (rg = 0.18, p =1.5 × 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
Published: 2019

15. Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries

Author: Kotoula, Vassiliki, Papadopoulou, Kyriaki, Tikas, Ioannis, Fostira, Florentia, Vrettou, Eleni, Chrisafi, Sofia, Fountzilas, Elena, Koliou, Georgia-Angeliki, Apostolou, Paraskevi, Papazisis, Konstantinos, Zaramboukas, Thomas, Asimaki-Vlachopoulou, Anthoula, Miliaras, Spyros, Ananiadis, Ananias, Poulios, Christos, Natsiopoulos, Ioannis, Tsiftsoglou, Aris, Demiri, Efterpi, and Fountzilas, George
Published: 2021
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16. 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

17. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

Author: Data gedreven innovatie, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Circulatory Health, Cardiovasculaire Epi Team 3, Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Onland-Moret, N. Charlotte, AOCS Group, OPAL Study Group, The Ovarian Cancer Association Consortium (OCAC), Data gedreven innovatie, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Circulatory Health, Cardiovasculaire Epi Team 3, Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Onland-Moret, N. Charlotte, AOCS Group, OPAL Study Group, and The Ovarian Cancer Association Consortium (OCAC)
Published: 2024

18. Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Author: Apostolou, Paraskevi, Dellatola, Vasiliki, Papathanasiou, Athanasios, Kalfakakou, Despoina, Fountzilas, Elena, Tryfonopoulos, Dimitrios, Karageorgopoulou, Sofia, Yannoukakos, Drakoulis, Konstantopoulou, Irene, and Fostira, Florentia
Subjects: BREAST tumor diagnosis, BRCA genes, RESEARCH funding, BREAST tumors, CANCER patients, DISEASE prevalence, TREATMENT effectiveness, AGE factors in disease, COMBINED modality therapy, GENETIC mutation, PROGRESSION-free survival, GENETIC testing, SYMPTOMS
Abstract: Simple Summary: Identification of germline pathogenic variants in breast cancer patients holds significant importance for accurate risk assessment and therapeutic interventions. However, research focusing on very young breast cancer patients remains limited. Our objective was to describe the prevalence, gene, and variant spectra alongside clinicopathological characteristics and outcomes of women diagnosed with breast cancer ≤30 years. Our observations revealed that one in three patients carried predisposing variants distributed in eight established breast cancer genes. Predominantly, causative variants implicated loss-of-function of BRCA1, TP53, and BRCA2, with TP53 emerging as the second most frequently mutated gene within this cohort. While carrier status did not impact event-free survival, carriers who underwent neoadjuvant chemotherapy exhibited improved prognostic outcomes. Our data underscore the substantial proportion of patients with hereditary predisposition, advocate for the inclusion of TP53 genetic testing, and suggest possible benefits of neoadjuvant chemotherapy in this very young group of breast cancer patients. Early-onset breast cancer constitutes a major criterion for genetic testing referral. Nevertheless, studies focusing on breast cancer patients (≤30 years) are limited. We investigated the contribution and spectrum of known breast-cancer-associated genes in 267 Greek women with breast cancer ≤30 years while monitoring their clinicopathological characteristics and outcomes. In this cohort, a significant proportion (39.7%) carried germline pathogenic variants (PVs) distributed in 8 genes. The majority, namely 36.7%, involved BRCA1, TP53, and BRCA2. PVs in BRCA1 were the most prevalent (28.1%), followed by TP53 (4.5%) and BRCA2 (4.1%) PVs. The contribution of PVs in CHEK2, ATM, PALB2, PTEN, and RAD51C was limited to 3%. In the patient group ≤26 years, TP53 PVs were significantly higher compared to the group 26–30 years (p = 0.0023). A total of 74.8% of TP53 carriers did not report a family history of cancer. Carriers of PVs receiving neoadjuvant chemotherapy showed an improved event-free survival (p < 0.0001) compared to non-carriers. Overall, many women with early-onset breast cancer carry clinically actionable variants, mainly in the BRCA1/2 and TP53 genes. The inclusion of timely testing of TP53 in these patients provides essential information for appropriate clinical management. This is important for countries where reimbursement involves the cost of genetic analysis of BRCA1/2 only. [ABSTRACT FROM AUTHOR]
Published: 2024
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19. Pathology of BRCA1- and BRCA2-associated Breast Cancers: Known and Less Known Connections

Author: Fountzilas, Elena, Konstantopoulou, Irene, Vagena, Andromahi, Apostolou, Paraskevi, Papadimitriou, Christos, Christodoulou, Christos, Tryfonopoulos, Dimitrios, Manousou, Kyriaki, Delimitsou, Angeliki, Papamentzelopoulou, Myrto, Fountzilas, Georgios, Yannoukakos, Drakoulis, and Fostira, Florentia
Published: 2020
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20. Close follow-up of early breast cancer patients in Greece. A single-center survey based on a one-to-one interview with questions. A cross-sectional descriptive study

Author: Papadopoulos, Lazaros, primary, Katsimi, Margarita, additional, Fokianou, Anna, additional, Maniatis, Dimitrios, additional, Ntasiou, Panagiota, additional, Alevizou, Romina, additional, Pavlakis, Emmanouil, additional, Kontogianni, Panagiota, additional, Selmani, Joninda, additional, Kechagioglou, Ioannis, additional, Iosifidou, Christina, additional, Eleftheriadou, Stavroula-Dafne, additional, Fostira, Florentia, additional, Filippidou, Sofia, additional, and Xepapadakis, Grigorios, additional
Published: 2024
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21. Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Author: Shi, Jiajun, Zhang, Yanfeng, Zheng, Wei, Michailidou, Kyriaki, Ghoussaini, Maya, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Milne, Roger L, Shu, Xiao‐Ou, Beesley, Jonathan, Kar, Siddhartha, Andrulis, Irene L, Anton‐Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Zhao, Zhiguo, Guo, Xingyi, Benitez, Javier, Beeghly‐Fadiel, Alicia, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Hui, Canisius, Sander, Chang‐Claude, Jenny, Choi, Ji‐Yeob, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Droit, Arnaud, Dork, Thilo, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Gaborieau, Valerie, García‐Closas, Montserrat, Giles, Graham G, Grip, Mervi, Guenel, Pascal, Haiman, Christopher A, Hamann, Ute, Hartman, Mikael, Miao, Hui, Hollestelle, Antoinette, Hopper, John L, Hsiung, Chia‐Ni, Investigators, kConFab, Ito, Hidemi, Jakubowska, Anna, Johnson, Nichola, Torres, Diana, Kabisch, Maria, Kang, Daehee, Khan, Sofia, Knight, Julia A, Kosma, Veli‐Matti, Lambrechts, Diether, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, McLean, Catriona, Meindl, Alfons, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Nord, Silje, Børresen‐Dale, Anne‐Lise, Olson, Janet E, Orr, Nick, van den Ouweland, Ans MW, Peterlongo, Paolo, Putti, Thomas Choudary, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shen, Chen‐Yang, Hou, Ming‐Feng, Shrubsole, Matha J, and Southey, Melissa C
Subjects: Genetics, Cancer, Breast Cancer, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Alleles, Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 8, Female, Genetic Variation, Genome-Wide Association Study, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Odds Ratio, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk, White People, breast cancer, genetic susceptibility, 8q24, fine-mapping, single nucleotide polymorphism, Mervi Grip, kConFab Investigators, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract: Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.
Published: 2016

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

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

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

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

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

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

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

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

26. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Author: Easton, Douglas F, Lesueur, Fabienne, Decker, Brennan, Michailidou, Kyriaki, Li, Jun, Allen, Jamie, Luccarini, Craig, Pooley, Karen A, Shah, Mitul, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R, Damiola, Francesca, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N, Ahmed, Shahana, Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Australian Ovarian Cancer Study Group, Baynes, Caroline, Beckman, Matthias W, Benitez, Javier, Van Den Berg, David, Blot, William J, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hart, Steven N, Hartman, Mikael, Hooning, Maartje J, Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna, James, Paul A, John, Esther M, Johnson, Nichola, Jones, Michael, Kabisch, Maria, Kang, Daehee, kConFab Investigators, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether, Li, Na, Lifepool Investigators, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, NBCS Investigators, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo, Phuah, Sze Yee, Pylkäs, Katri, Rowley, Simone M, Sangrajrang, Suleeporn, Schmutzler, Rita K, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony, and Teo, Soo H
Subjects: Australian Ovarian Cancer Study Group, kConFab Investigators, Lifepool Investigators, NBCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, RNA Helicases, DNA-Binding Proteins, Risk, Cohort Studies, Mutation, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Fanconi Anemia Complementation Group Proteins, Genetic Association Studies, Cancer: breast, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
Abstract: BACKGROUND:BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. METHODS:We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. RESULTS:The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). CONCLUSIONS:These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.
Published: 2016

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

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

28. 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

29. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk.

Author: Arndt, Volker, Beckmann, Matthias, Beeghly-Fadiel, Alicia, Benitez, Javier, Blot, William, Bogdanova, Natalia, Bojesen, Stig, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Hui, Canisius, Sander, Chang-Claude, Jenny, Choi, Ji-Yeob, Couch, Fergus, Cox, Angela, Cross, Simon, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Droit, Arnaud, Dörk, Thilo, Fasching, Peter, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Gaborieau, Valerie, García-Closas, Montserrat, Giles, Graham, Grip, Mervi, Guénel, Pascal, Haiman, Christopher, Hamann, Ute, Hartman, Mikael, Hollestelle, Antoinette, Hopper, John, Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna, Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Khan, Sofia, Knight, Julia, Kosma, Veli-Matti, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, McLean, Catriona, Meindl, Alfons, Muir, Kenneth, Neuhausen, Susan, Nevanlinna, Heli, Nord, Silje, Olson, Janet, Orr, Nick, Peterlongo, Paolo, Putti, Thomas, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor, Schmidt, Marjanka, Schmutzler, Rita, Shen, Chen-Yang, Shi, Jiajun, Shrubsole, Martha, Southey, Melissa, Swerdlow, Anthony, Teo, Soo, Thienpont, Bernard, Toland, Amanda, Tollenaar, Robert, Tomlinson, Ian, Truong, Thérèse, Tseng, Chiu-Chen, van den Ouweland, Ans, Wen, Wanqing, Winqvist, Robert, Wu, Anna, Yip, Cheng, Zamora, M, Zheng, Ying, Hall, Per, Pharoah, Paul, Simard, Jacques, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas, and Zheng, Wei
Subjects: Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Genetic Loci, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide, Risk Factors
Abstract: BACKGROUND: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. METHODS: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. RESULTS: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10(-4); OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P = 1.86 × 10(-4); OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r(2) ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. CONCLUSION: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. IMPACT: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.
Published: 2015

30. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Author: Rebbeck, Timothy R, Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M, Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C, Nathanson, Katherine L, CIMBA Consortium, Laitman, Yael, Kushnir, Anya, Paluch-Shimon, Shani, Berger, Raanan, Zidan, Jamal, Friedman, Eitan, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Einbeigi, Zakaria, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I, Seldon, Joyce, Ganz, Patricia A, Nussbaum, Robert L, Chan, Salina B, Odunsi, Kunle, Gayther, Simon A, Domchek, Susan M, Arun, Banu K, Lu, Karen H, Mitchell, Gillian, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Godwin, Andrew K, Pathak, Harsh, Ross, Eric, Daly, Mary B, Whittemore, Alice S, John, Esther M, Miron, Alexander, Terry, Mary Beth, Chung, Wendy K, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas VO, Ramón y Cajal, Teresa, Osorio, Ana, Benitez, Javier, Godino, Javier, Tejada, Maria-Isabel, Duran, Mercedes, Weitzel, Jeffrey N, Bobolis, Kristie A, Sand, Sharon R, Fontaine, Annette, Savarese, Antonella, Pasini, Barbara, Peissel, Bernard, Bonanni, Bernardo, Zaffaroni, Daniela, Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe, Bernard, Loris, Genuardi, Maurizio, Radice, Paolo, Dolcetti, Riccardo, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Yannoukakos, Drakoulis, Fostira, Florentia, Garber, Judy, Torres, Diana, Rashid, Muhammad Usman, Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D Gareth, Eeles, Rosalind, Davidson, Rosemarie, and Eccles, Diana
Subjects: CIMBA Consortium, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, Nucleotides, Risk Factors, Age of Onset, Heterozygote, Mutation, Genes, BRCA1, Genes, BRCA2, Adult, Middle Aged, Female, Cancer, Prevention, Rare Diseases, Breast Cancer, Clinical Research, Ovarian Cancer, General & Internal Medicine, Medical and Health Sciences
Abstract: ImportanceLimited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.ObjectiveTo identify mutation-specific cancer risks for carriers of BRCA1/2.Design, setting, and participantsObservational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents. We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position. We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 indicated elevated breast cancer risk; a value of RHR less than 1 indicated elevated ovarian cancer risk.ExposuresMutations of BRCA1 or BRCA2.Main outcomes and measuresBreast and ovarian cancer risks.ResultsAmong BRCA1 mutation carriers, 9052 women (46%) were diagnosed with breast cancer, 2317 (12%) with ovarian cancer, 1041 (5%) with breast and ovarian cancer, and 7171 (37%) without cancer. Among BRCA2 mutation carriers, 6180 women (52%) were diagnosed with breast cancer, 682 (6%) with ovarian cancer, 272 (2%) with breast and ovarian cancer, and 4766 (40%) without cancer. In BRCA1, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95% CI, 1.22-1.74; P = 2 × 10(-6)), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95% CI, 1.01-1.78; P = .04), and c. 5261 to c.5563 (BCCR2', RHR = 1.38; 95% CI, 1.22-1.55; P = 6 × 10(-9)). We also identified an ovarian cancer cluster region (OCCR) from c.1380 to c.4062 (approximately exon 11) with RHR = 0.62 (95% CI, 0.56-0.70; P = 9 × 10(-17)). In BRCA2, we observed multiple BCCRs spanning c.1 to c.596 (BCCR1; RHR = 1.71; 95% CI, 1.06-2.78; P = .03), c.772 to c.1806 (BCCR1'; RHR = 1.63; 95% CI, 1.10-2.40; P = .01), and c.7394 to c.8904 (BCCR2; RHR = 2.31; 95% CI, 1.69-3.16; P = .00002). We also identified 3 OCCRs: the first (OCCR1) spanned c.3249 to c.5681 that was adjacent to c.5946delT (6174delT; RHR = 0.51; 95% CI, 0.44-0.60; P = 6 × 10(-17)). The second OCCR spanned c.6645 to c.7471 (OCCR2; RHR = 0.57; 95% CI, 0.41-0.80; P = .001). Mutations conferring nonsense-mediated decay were associated with differential breast or ovarian cancer risks and an earlier age of breast cancer diagnosis for both BRCA1 and BRCA2 mutation carriers.Conclusions and relevanceBreast and ovarian cancer risks varied by type and location of BRCA1/2 mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations.
Published: 2015

31. Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Author: Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas VO, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Weitzel, Jeffrey N, Ganschow, Pamela, Peterlongo, Paolo, Bernard, Loris, Viel, Alessandra, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo, Papi, Laura, Ottini, Laura, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Frost, Debra, Perkins, Jo, Platte, Radka, Ellis, Steve, EMBRACE, Godwin, Andrew K, Schmutzler, Rita Katharina, Meindl, Alfons, Engel, Christoph, Sutter, Christian, Sinilnikova, Olga M, GEMO Study Collaborators, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Claes, Kathleen, De Leeneer, Kim, Kirk, Judy, Rodriguez, Gustavo C, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Caldes, Trinidad, Aittomäki, Kristiina, Nevanlinna, Heli, Collée, J Margriet, Rookus, Matti A, Oosterwijk, Jan C, Breast Cancer Family Registry, Tihomirova, Laima, Tung, Nadine, Hamann, Ute, Isaccs, Claudine, Tischkowitz, Marc, Imyanitov, Evgeny N, Caligo, Maria A, Campbell, Ian G, Hogervorst, Frans BL, HEBON, Olah, Edith, Diez, Orland, Blanco, Ignacio, Brunet, Joan, Lazaro, Conxi, Pujana, Miquel Angel, Jakubowska, Anna, Gronwald, Jacek, Lubinski, Jan, and Sukiennicki, Grzegorz
Subjects: EMBRACE, GEMO Study Collaborators, Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study, Australian Ovarian Cancer Study Group, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk, Genotype, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Alleles, Genes, Reporter, Quantitative Trait Loci, Adolescent, Adult, Female, Genome-Wide Association Study, Young Adult, Carcinoma, Ovarian Epithelial, Human Genome, Rare Diseases, Genetics, Cancer, Prevention, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
Published: 2015

32. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Peterlongo, Paolo, Chang-Claude, Jenny, Moysich, Kirsten B, Rudolph, Anja, Schmutzler, Rita K, Simard, Jacques, Soucy, Penny, Eeles, Rosalind A, Easton, Douglas F, Hamann, Ute, Wilkening, Stefan, Chen, Bowang, Rookus, Matti A, Schmidt, Marjanka K, van der Baan, Frederieke H, Spurdle, Amanda B, Walker, Logan C, Lose, Felicity, Maia, Ana-Teresa, Montagna, Marco, Matricardi, Laura, Lubinski, Jan, Jakubowska, Anna, Garcia, Encarna B Gómez, Olopade, Olufunmilayo I, Nussbaum, Robert L, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Orsulic, Sandra, Lester, Jenny, Chung, Wendy K, Miron, Alex, Southey, Melissa C, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Ding, Yuan Chun, Neuhausen, Susan L, Hansen, Thomas VO, Gerdes, Anne-Marie, Ejlertsen, Bent, Jønson, Lars, Osorio, Ana, Martínez-Bouzas, Cristina, Benitez, Javier, Conway, Edye E, Blazer, Kathleen R, Weitzel, Jeffrey N, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Giannini, Giuseppe, Papi, Laura, Martayan, Aline, Tibiletti, Maria Grazia, Radice, Paolo, Vratimos, Athanassios, Fostira, Florentia, Garber, Judy E, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth R, Frost, Debra, Eccles, Diana, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V, Ellis, Steve, Cole, Trevor, behalf of EMBRACE, on, Godwin, Andrew K, Claes, Kathleen, Van Maerken, Tom, Meindl, Alfons, Gehrig, Andrea, and Sutter, Christian
Subjects: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Cancer, Women's Health, Rare Diseases, Human Genome, Breast Cancer, Genetic Testing, Prevention, Genetics, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Breast Neoplasms, Cohort Studies, Female, Genes, BRCA1, Genes, BRCA2, Humans, Mutation, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Retrospective Studies, Young Adult, EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundBRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes.MethodsGenotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach.ResultsThe observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments.ConclusionThere is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.ImpactGenome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.
Published: 2015

33. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Author: Kuchenbaecker, Karoline B, Neuhausen, Susan L, Robson, Mark, Barrowdale, Daniel, McGuffog, Lesley, Mulligan, Anna Marie, Andrulis, Irene L, Spurdle, Amanda B, Schmidt, Marjanka K, Schmutzler, Rita K, Engel, Christoph, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa, Radice, Paolo, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Lee, Andrew, Healey, Sue, Nussbaum, Robert L, Rebbeck, Timothy R, Arun, Banu K, James, Paul, Karlan, Beth Y, Lester, Jenny, Cass, Ilana, Breast Cancer Family Registry, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, v O Hansen, Thomas, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Dennis, Joe, Cunningham, Julie, Hart, Steven, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Tafur, Isaac, Hander, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo, Varesco, Liliana, Papi, Laura, Tibiletti, Maria Grazia, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, EMBRACE Study, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K, Rhiem, Kerstin, Meindl, Alfons, and Ditsch, Nina
Subjects: Breast Cancer Family Registry, EMBRACE Study, GEMO Study Collaborators, HEBON, KConFab Investigators, CIMBA, Humans, Carcinoma, Carcinoma, Ductal, Breast, Carcinoma, Lobular, Breast Neoplasms, Genetic Predisposition to Disease, Receptor, erbB-2, Receptors, Estrogen, Receptors, Progesterone, Neoplasm Staging, Heterozygote, Alleles, Genes, BRCA1, Genes, BRCA2, Adult, Aged, Middle Aged, Female, Neoplasm Grading, Receptor, ErbB-2, Ductal, Breast, Lobular, Receptor, erbB-2, Receptors, Estrogen, Progesterone, Genes, BRCA1, BRCA2, ErbB-2, Prevention, Breast Cancer, Clinical Research, Genetics, Cancer, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract: IntroductionMore than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers.MethodsWe used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.ResultsThe estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for BRCA1 and BRCA2 carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at P
Published: 2014

34. Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification

Author: Papamentzelopoulou, Myrto, Apostolou, Paraskevi, Fostira, Florentia, Dimitrakakis, Constantine, Loutradis, Dimitris, Fountzilas, George, Yannoukakos, Drakoulis, and Konstantopoulou, Irene
Published: 2019
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35. Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients

Author: Kotoula, Vassiliki, Lakis, Sotirios, Tikas, Ioannis, Giannoulatou, Eleni, Lazaridis, Georgios, Papadopoulou, Kyriaki, Manoussou, Kyriaki, Efstratiou, Ioannis, Papanikolaou, Alexios, Fostira, Florentia, Vlachos, Ioannis, Tarlatzis, Basil, and Fountzilas, George
Published: 2019
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36. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

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

37. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.

Author: Purrington, Kristen, Slager, Susan, Eccles, Diana, Yannoukakos, Drakoulis, Fasching, Peter, Miron, Penelope, Carpenter, Jane, Chang-Claude, Jenny, Martin, Nicholas, Montgomery, Grant, Kristensen, Vessela, Goodfellow, Paul, Tapper, William, Rafiq, Sajjad, Gerty, Susan, Durcan, Lorraine, Konstantopoulou, Irene, Fostira, Florentia, Vratimos, Athanassios, Apostolou, Paraskevi, Konstanta, Irene, Kotoula, Vassiliki, Lakis, Sotiris, Dimopoulos, Meletios, Skarlos, Dimosthenis, Pectasides, Dimitrios, Fountzilas, George, Beckmann, Matthias, Hein, Alexander, Ruebner, Matthias, Ekici, Arif, Hartmann, Arndt, Schulz-Wendtland, Ruediger, Renner, Stefan, Janni, Wolfgang, Rack, Brigitte, Scholz, Christoph, Neugebauer, Julia, Andergassen, Ulrich, Lux, Michael, Haeberle, Lothar, Clarke, Christine, Pathmanathan, Nirmala, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Olson, Janet, Ingle, James, Olswold, Curtis, Slettedahl, Seth, Eckel-Passow, Jeanette, Anderson, S, Visscher, Daniel, Cafourek, Victoria, Sicotte, Hugues, Prodduturi, Naresh, Weiderpass, Elisabete, Bernstein, Leslie, Ivanovich, Jennifer, Giles, Graham, Baglietto, Laura, Southey, Melissa, Kosma, Veli-Matti, Fischer, Hans-Peter, Reed, Malcom, Cross, Simon, Deming-Halverson, Sandra, Shrubsole, Martha, Cai, Qiuyin, Shu, Xiao-Ou, Daly, Mary, Weaver, Joellen, Ross, Eric, Klemp, Jennifer, Sharma, Priyanka, Torres, Diana, Rüdiger, Thomas, Wölfing, Heidrun, Ulmer, Hans-Ulrich, Försti, Asta, Khoury, Thaer, Kumar, Shicha, Pilarski, Robert, Shapiro, Charles, Greco, Dario, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Irwanto, Astrid, Liu, Jianjun, Pankratz, Vernon, Wang, Xianshu, Severi, Gianluca, Mannermaa, Arto, Easton, Douglas, Hall, Per, Brauch, Hiltrud, Cox, Angela, Zheng, Wei, and Godwin, Andrew
Subjects: Adult, Aged, Aged, 80 and over, Case-Control Studies, Chromosomes, Human, Pair 19, Estrogen Receptor alpha, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Middle Aged, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Triple Negative Breast Neoplasms, Young Adult
Abstract: Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 × 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction.
Published: 2014

38. Concordance between Three Homologous Recombination Deficiency (HRD) Assays in Patients with High-Grade Epithelial Ovarian Cancer

Author: Fountzilas, Elena, primary, Papadopoulou, Kyriaki, additional, Chatzikonstantinou, Thomas, additional, Karakatsoulis, Georgios, additional, Constantoulakis, Pantelis, additional, Tsantikidi, Aikaterini, additional, Tsaousis, Georgios, additional, Karageorgopoulou, Sofia, additional, Koumarianou, Anna, additional, Mauri, Davide, additional, Ntavatzikos, Anastasios, additional, Saridaki, Zacharenia, additional, Petrakis, Georgios, additional, Fostira, Florentia, additional, Fountzilas, George, additional, and Liontos, Michalis, additional
Published: 2023
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39. PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

Author: Vagena, Andromachi, Papamentzelopoulou, Myrto, Kalfakakou, Despoina, Kollia, Panagoula, Papadimitriou, Christos, Psyrri, Amanda, Apostolou, Paraskevi, Fountzilas, George, Konstantopoulou, Irene, Yannoukakos, Drakoulis, and Fostira, Florentia
Published: 2019
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40. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
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41. Figure 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
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42. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
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43. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
Full Text: View/download PDF

44. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
Full Text: View/download PDF

45. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
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46. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
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47. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
Full Text: View/download PDF

48. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary
Published: 2023
Full Text: View/download PDF

49. Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece

Author: Konstanta, Irene, Fostira, Florentia, Apostolou, Paraskevi, Stratikos, Efstratios, Kalfakakou, Despoina, Pampanos, Andreas, Kollia, Panagoula, Papadimitriou, Christos, Konstantopoulou, Irene, and Yannoukakos, Drakoulis
Published: 2018
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50. Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients

Author: Apostolou, Paraskevi, Fostira, Florentia, Mollaki, Vasiliki, Delimitsou, Angeliki, Vlassi, Metaxia, Pentheroudakis, George, Faliakou, Eleni, Kollia, Panagoula, Fountzilas, George, Yannoukakos, Drakoulis, and Konstantopoulou, Irene
Published: 2018
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