BRCA2 c.469A>T ;(p.K157*)

Variant ID: 13-32900281-A-T

NM_000059.3(BRCA2):c.469A>T;(p.K157*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: 469A>T; Lys157Ter
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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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: 469A>T; Lys157Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 469A>T; Lys157*
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)
Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG
Publication Date: 2022-10

Variant appearance in text: BRCA2: 469A>T; K157*
PubMed Link: 35753294
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Fanconi Anaemia, Childhood Cancer and the BRCA Genes.

Genes
Woodward, Emma R ER; Meyer, Stefan S
Publication Date: 2021-09-27

Variant appearance in text: BRCA2: 469A>T
PubMed Link: 34680915
Variant Present in the following documents:
  • Main text
  • genes-12-01520.pdf
View BVdb publication page



Clinical consequences of BRCA2 hypomorphism.

Npj Breast Cancer
Castells-Roca, Laia L; Gutiérrez-Enríquez, Sara S; Bonache, Sandra S; Bogliolo, Massimo M; Carrasco, Estela E; Aza-Carmona, Miriam M; Montalban, Gemma G; Muñoz-Subirana, Núria N; Pujol, Roser R; Cruz, Cristina C; Llop-Guevara, Alba A; Ramírez, María J MJ; Saura, Cristina C; Lasa, Adriana A; Serra, Violeta V; Diez, Orland O; Balmaña, Judith J; Surrallés, Jordi J
Publication Date: 2021-09-09

Variant appearance in text: BRCA2: 469A>T; Lys157*
PubMed Link: 34504103
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_322.pdf
  • 41523_2021_322_MOESM2_ESM.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 469A>T; Lys157X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Npj Breast Cancer
Figlioli, Gisella G; Bogliolo, Massimo M; Catucci, Irene I; Caleca, Laura L; Lasheras, Sandra Viz SV; Pujol, Roser R; Kiiski, Johanna I JI; Muranen, Taru A TA; Barnes, Daniel R DR; Dennis, Joe J; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Leslie, Goska G; Aalfs, Cora M CM; , ; Adank, Muriel A MA; Adlard, Julian J; Agata, Simona S; Cadoo, Karen K; Agnarsson, Bjarni A BA; Ahearn, Thomas T; Aittomäki, Kristiina K; Ambrosone, Christine B CB; Andrews, Lesley L; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Arnold, Norbert N; Aronson, Kristan J KJ; Arun, Banu K BK; Asseryanis, Ella E; Auber, Bernd B; Auvinen, Päivi P; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Barwell, Julian J; Beane Freeman, Laura E LE; Beauparlant, Charles Joly CJ; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Berger, Raanan R; Bermisheva, Marina M; Blanco, Amie M AM; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Anders A; Bojesen, Stig E SE; Bonanni, Bernardo B; Borg, Ake A; Brady, Angela F AF; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campa, Daniele D; Campbell, Ian G IG; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Claes, Kathleen B M KBM; Clarke, Christine L CL; Collavoli, Anita A; Conner, Thomas A TA; Cox, David G DG; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Dos-Santos-Silva, Isabel I; Durda, Katarzyna K; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eliassen, A Heather AH; Ellberg, Carolina C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Foulkes, William D WD; Friebel, Tara M TM; Friedman, Eitan E; Gabrielson, Marike M; Gaddam, Pragna P; Gago-Dominguez, Manuela M; Gao, Chi C; Gapstur, Susan M SM; Garber, Judy J; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Gayther, Simon A SA; , ; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Gutierrez-Barrera, Angelica M AM; Haeberle, Lothar L; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hein, Alexander A; Heyworth, Jane J; Hillemanns, Peter P; Hollestelle, Antoinette A; Hopper, John L JL; Hosgood, H Dean HD; Howell, Anthony A; Hu, Chunling C; Hulick, Peter J PJ; Hunter, David J DJ; Imyanitov, Evgeny N EN; , ; Isaacs, Claudine C; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Janni, Wolfgang W; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Karlan, Beth Y BY; Khusnutdinova, Elza E; Kitahara, Cari M CM; Konstantopoulou, Irene I; Koutros, Stella S; Kraft, Peter P; Lambrechts, Diether D; Lazaro, Conxi C; Le Marchand, Loic L; Lester, Jenny J; Lesueur, Fabienne F; Lilyquist, Jenna J; Loud, Jennifer T JT; Lu, Karen H KH; Luben, Robert N RN; Lubinski, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martens, John W M JWM; Maurer, Tabea T; Mavroudis, Dimitrios D; Mebirouk, Noura N; Meindl, Alfons A; Menon, Usha U; Miller, Austin A; Montagna, Marco M; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Newman, William G WG; Nguyen-Dumont, Tu T; Nielsen, Finn Cilius FC; Nielsen, Sarah S; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Osorio, Ana A; Ottini, Laura L; Peissel, Bernard B; Peixoto, Ana A; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Pocza, Timea T; Presneau, Nadege N; Pujana, Miquel Angel MA; Punie, Kevin K; Rack, Brigitte B; Rantala, Johanna J; Rashid, Muhammad U MU; Rau-Murthy, Rohini R; Rennert, Gad G; Lejbkowicz, Flavio F; Rhenius, Valerie V; Romero, Atocha A; Rookus, Matti A MA; Ross, Eric A EA; Rossing, Maria M; Rudaitis, Vilius V; Ruebner, Matthias M; Saloustros, Emmanouil E; Sanden, Kristin K; Santamariña, Marta M; Scheuner, Maren T MT; Schmutzler, Rita K RK; Schneider, Michael M; Scott, Christopher C; Senter, Leigha L; Shah, Mitul M; Sharma, Priyanka P; Shu, Xiao-Ou XO; Simard, Jacques J; Singer, Christian F CF; Sohn, Christof C; Soucy, Penny P; Southey, Melissa C MC; Spinelli, John J JJ; Steele, Linda L; Stoppa-Lyonnet, Dominique D; Tapper, William J WJ; Teixeira, Manuel R MR; Terry, Mary Beth MB; Thomassen, Mads M; Thompson, Jennifer J; Thull, Darcy L DL; Tischkowitz, Marc M; Tollenaar, Rob A E M RAEM; Torres, Diana D; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Untch, Michael M; Vachon, Celine M CM; van Rensburg, Elizabeth J EJ; van Veen, Elke M EM; Vega, Ana A; Viel, Alessandra A; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wieme, Greet G; Wolk, Alicja A; Yang, Xiaohong R XR; Zheng, Wei W; Ziogas, Argyrios A; Zorn, Kristin K KK; Dunning, Alison M AM; Lush, Michael M; Wang, Qin Q; McGuffog, Lesley L; Parsons, Michael T MT; Pharoah, Paul D P PDP; Fostira, Florentia F; Toland, Amanda E AE; Andrulis, Irene L IL; Ramus, Susan J SJ; Swerdlow, Anthony J AJ; Greene, Mark H MH; Chung, Wendy K WK; Milne, Roger L RL; Chenevix-Trench, Georgia G; Dörk, Thilo T; Schmidt, Marjanka K MK; Easton, Douglas F DF; Radice, Paolo P; Hahnen, Eric E; Antoniou, Antonis C AC; Couch, Fergus J FJ; Nevanlinna, Heli H; Surrallés, Jordi J; Peterlongo, Paolo P
Publication Date: 2019

Variant appearance in text: BRCA2: Lys157*
PubMed Link: 31700994
Variant Present in the following documents:
  • Main text
  • 41523_2019_Article_127.pdf
View BVdb publication page



Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.

The Journal Of Clinical Investigation
Knies, Kerstin K; Inano, Shojiro S; Ramírez, María J MJ; Ishiai, Masamichi M; Surrallés, Jordi J; Takata, Minoru M; Schindler, Detlev D
Publication Date: 2017-08-01

Variant appearance in text: FANCD1: 469A>T
PubMed Link: 28691929
Variant Present in the following documents:
  • Main text
View BVdb publication page