Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BRCA2: 8363G>A; W2788*; rs80359080
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA2: 8363G>A; Trp2788Ter
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06
Variant appearance in text: BRCA2: 8363G>A; Trp2788X
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Breast Cancer Research And Treatment
Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M
Publication Date: 2021-09
Variant appearance in text: BRCA2: 8363G>A; W2788X; rs80359080
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Npj Breast Cancer
Walsh, Tom T; Gulsuner, Suleyman S; Lee, Ming K MK; Troester, Melissa A MA; Olshan, Andrew F AF; Earp, H Shelton HS; Perou, Charles M CM; King, Mary-Claire MC
Publication Date: 2021-01-21
Variant appearance in text: BRCA2: 8363G>A; W2788X
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; de la Hoya, Miguel M; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG
Publication Date: 2020-08
Variant appearance in text: BRCA2: 8363G>A; Trp2788*
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
Cancers
Vocka, Michal M; Zimovjanova, Martina M; Bielcikova, Zuzana Z; Tesarova, Petra P; Petruzelka, Lubos L; Mateju, Martin M; Krizova, Ludmila L; Kotlas, Jaroslav J; Soukupova, Jana J; Janatova, Marketa M; Zemankova, Petra P; Kleiblova, Petra P; Novotny, Jan J; Konopasek, Bohuslav B; Chodacka, Martina M; Brychta, Milan M; Sochor, Marek M; Smejkalova-Musilova, Denisa D; Cmejlova, Vlastimila V; Kozevnikovova, Renata R; Miskarova, Lenka L; Argalacsova, Sona S; Stolarova, Lenka L; Lhotova, Klara K; Borecka, Marianna M; Kleibl, Zdenek Z
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.
Oncotarget
Jeong, Hae Min HM; Kim, Ryong Nam RN; Kwon, Mi Jeong MJ; Oh, Ensel E; Han, Jinil J; Lee, Se Kyung SK; Choi, Jong-Sun JS; Park, Sara S; Nam, Seok Jin SJ; Gong, Gyung Yup GY; Nam, Jin Wu JW; Choi, Doo Ho DH; Lee, Hannah H; Nam, Byung-Ho BH; Choi, Yoon-La YL; Shin, Young Kee YK
Publication Date: 2017-09-22
Variant appearance in text: BRCA2: 8363G>A; W2788X
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
Nature Communications
Maxwell, Kara N KN; Wubbenhorst, Bradley B; Wenz, Brandon M BM; De Sloover, Daniel D; Pluta, John J; Emery, Lyndsey L; Barrett, Amanda A; Kraya, Adam A AA; Anastopoulos, Ioannis N IN; Yu, Shun S; Jiang, Yuchao Y; Chen, Hao H; Zhang, Nancy R NR; Hackman, Nicole N; D'Andrea, Kurt K; Daber, Robert R; Morrissette, Jennifer J D JJD; Mitra, Nandita N; Feldman, Michael M; Domchek, Susan M SM; Nathanson, Katherine L KL
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Research : Bcr
Rebbeck, Timothy R TR; Friebel, Tara M TM; Mitra, Nandita N; Wan, Fei F; Chen, Stephanie S; Andrulis, Irene L IL; Apostolou, Paraskevi P; Arnold, Norbert N; Arun, Banu K BK; Barrowdale, Daniel D; Benitez, Javier J; Berger, Raanan R; Berthet, Pascaline P; Borg, Ake A; Buys, Saundra S SS; Caldes, Trinidad T; Carter, Jonathan J; Chiquette, Jocelyne J; Claes, Kathleen B M KB; Couch, Fergus J FJ; Cybulski, Cezary C; Daly, Mary B MB; de la Hoya, Miguel M; Diez, Orland O; Domchek, Susan M SM; Nathanson, Katherine L KL; Durda, Katarzyna K; Ellis, Steve S; , ; Evans, D Gareth DG; Foretova, Lenka L; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hallberg, Emily E; Hamann, Ute U; Hansen, Thomas V O TV; , ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Jakubowska, Anna A; Janavicius, Ramunas R; Jaworska-Bieniek, Katarzyna K; John, Esther M EM; Karlan, Beth Y BY; Kaufman, Bella B; Investigators, KConFab K; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Lazaro, Conxi C; Lester, Jenny J; Loman, Niklas N; Lubinski, Jan J; Manoukian, Siranoush S; Mitchell, Gillian G; Montagna, Marco M; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Park, Sue Kyung SK; Piedmonte, Marion M; Radice, Paolo P; Rappaport-Fuerhauser, Christine C; Rookus, Matti A MA; Seynaeve, Caroline C; Simard, Jacques J; Singer, Christian F CF; Soucy, Penny P; Southey, Melissa M; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Szabo, Csilla I CI; Tancredi, Mariella M; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Toland, Amanda Ewart AE; Toloczko-Grabarek, Aleksandra A; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Villano, Danylo D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Zidan, Jamal J; Zorn, Kristin K KK; McGuffog, Lesley L; Easton, Douglas D; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Ramus, Susan J SJ
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
Bmc Cancer
Machackova, Eva E; Foretova, Lenka L; Lukesova, Mirka M; Vasickova, Petra P; Navratilova, Marie M; Coene, Ilse I; Pavlu, Hana H; Kosinova, Veronika V; Kuklova, Jitka J; Claes, Kathleen K
Publication Date: 2008-05-20
Variant appearance in text: BRCA2: 8363G>A; Trp2788X