BRCA2 c.3865_3868del ;(p.K1289Afs*3)

Variant ID: 13-32912353-TAATA-T

NM_000059.3(BRCA2):c.3865_3868del;(p.K1289Afs*3)

This variant was identified in 17 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: 3865_3868del; Lys1289fs
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: 3865_3868del; Lys1289fs
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: 3865_3868del; Lys1289Alafs*3
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 6
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
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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: 3865_3868delAAAT; Lys1289fs
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer
Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q
Publication Date: 2022-08-02

Variant appearance in text: BRCA2: 3862_3865del; Lys1289Alafs*3
PubMed Link: 35918668
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9943.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 3865_3868delAAAT; K1289fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Breast Cancer Research And Treatment
Lertwilaiwittaya, Pongtawat P; Roothumnong, Ekkapong E; Nakthong, Panee P; Dungort, Peerawat P; Meesamarnpong, Chutima C; Tansa-Nga, Warisara W; Pongsuktavorn, Khontawan K; Wiboonthanasarn, Supakit S; Tititumjariya, Warunya W; Thongnoppakhun, Wanna W; Chanprasert, Sirisak S; Limwongse, Chanin C; Pithukpakorn, Manop M
Publication Date: 2021-07

Variant appearance in text: BRCA2: 3865_3868delAAAT; Lys1289Alafs*3
PubMed Link: 33649982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

Jama Network Open
George, Sophia H L SHL; Donenberg, Talia T; Alexis, Cheryl C; DeGennaro, Vincent V; Dyer, Hedda H; Yin, Sook S; Ali, Jameel J; Butler, Raleigh R; Chin, Sheray N SN; Curling, DuVaughn D; Lowe, Dwight D; Lunn, John J; Turnquest, Theodore T; Wharfe, Gilian G; Cerbon, Danielle D; Barreto-Coelho, Priscila P; Schlumbrecht, Matthew P MP; Akbari, Mohammad R MR; Narod, Steven A SA; Hurley, Judith E JE
Publication Date: 2021-03-01

Variant appearance in text: BRCA2: 3865_3868delAAAT
PubMed Link: 33646313
Variant Present in the following documents:
  • jamanetwopen-e210307-s001.pdf
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA2: 3865_3868delAAAT
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: N/A
PubMed Link: 31645765
Variant Present in the following documents:
View BVdb publication page



Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Bmc Cancer
Sepahi, Ilnaz I; Faust, Ulrike U; Sturm, Marc M; Bosse, Kristin K; Kehrer, Martin M; Heinrich, Tilman T; Grundman-Hauser, Kathrin K; Bauer, Peter P; Ossowski, Stephan S; Susak, Hana H; Varon, Raymonda R; Schröck, Evelin E; Niederacher, Dieter D; Auber, Bernd B; Sutter, Christian C; Arnold, Norbert N; Hahnen, Eric E; Dworniczak, Bernd B; Wang-Gorke, Shan S; Gehrig, Andrea A; Weber, Bernhard H F BHF; Engel, Christoph C; Lemke, Johannes R JR; Hartkopf, Andreas A; Nguyen, Huu Phuc HP; Riess, Olaf O; Schroeder, Christopher C
Publication Date: 2019-08-08

Variant appearance in text: BRCA2: 3865_3868delAAAT; Lys1289fs
PubMed Link: 31395037
Variant Present in the following documents:
  • 12885_2019_5946_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics
Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2020-01

Variant appearance in text: BRCA2: 3865_3868delAAAT; Lys1289fs
PubMed Link: 31300551
Variant Present in the following documents:
  • jmedgenet-2019-106189supp005.pdf
View BVdb publication page



Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Plos One
Ow, Samuel Guan Wei SGW; Ong, Pei Yi PY; Lee, Soo-Chin SC
Publication Date: 2019

Variant appearance in text: BRCA2: 3865_3868delAAAT; K1289Afs
PubMed Link: 30875412
Variant Present in the following documents:
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 3865_3868delAAAT
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Journal Of Medical Genetics
Wen, Wei Xiong WX; Allen, Jamie J; Lai, Kah Nyin KN; Mariapun, Shivaani S; Hasan, Siti Norhidayu SN; Ng, Pei Sze PS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Yoon, Sook-Yee SY; Lim, Joanna J; Lau, Shao Yan SY; Decker, Brennan B; Pooley, Karen K; Dorling, Leila L; Luccarini, Craig C; Baynes, Caroline C; Conroy, Don M DM; Harrington, Patricia P; Simard, Jacques J; Yip, Cheng Har CH; Mohd Taib, Nur Aishah NA; Ho, Weang Kee WK; Antoniou, Antonis C AC; Dunning, Alison M AM; Easton, Douglas F DF; Teo, Soo Hwang SH
Publication Date: 2018-02

Variant appearance in text: BRCA2: 3865_3868delAAAT; K1289fs
PubMed Link: 28993434
Variant Present in the following documents:
  • jmedgenet-2017-104947supp001.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA2: 3865_3868delAAAT; Lys1289Alafs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: BRCA2: 3862_3865del
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page