BRCA2 c.8754G>A ;(p.E2918=)

Variant ID: 13-32950928-G-A

NM_000059.3(BRCA2):c.8754G>A;(p.E2918=)

This variant was identified in 14 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: 8754G>A; Glu2918=; rs80359803
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 8754G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



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: 8754G>A; Glu2918=
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: 8754G>A; rs80359803
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s010.xlsx, sheet 3
  • 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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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: BRCA2: 8754G>A; Glu2918=; rs80359803
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS5.xlsx, sheet 1
  • LSA-2021-01319_TableS1.xlsx, sheet 1
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Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.

Journal Of Gynecologic Oncology
Lee, Jung-Yun JY; Kim, Byoung-Gie BG; Kim, Jae-Weon JW; Lee, Jung Bok JB; Park, Eunhyang E; Joung, Je-Gun JG; Kim, Sunghoon S; Choi, Chel Hun CH; Kim, Hee Seung HS; ,
Publication Date: 2022-07

Variant appearance in text: BRCA2: E2918E
PubMed Link: 35320892
Variant Present in the following documents:
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: 8754G>A
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Cancers
Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C
Publication Date: 2019-08-26

Variant appearance in text: BRCA2: 8754G>A; Glu2918=; rs80359803
PubMed Link: 31454914
Variant Present in the following documents:
  • Main text
  • cancers-11-01246.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: 8754G>A; Glu2918=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: BRCA2: 8754G>A; E2918E
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2016-07

Variant appearance in text: BRCA2: 8754G>A; E2918E
PubMed Link: 26913838
Variant Present in the following documents:
  • HUMU-37-627-s001.xlsx, sheet 1
View BVdb publication page



Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Human Mutation
Acedo, Alberto A; Hernández-Moro, Cristina C; Curiel-García, Álvaro Á; Díez-Gómez, Beatriz B; Velasco, Eladio A EA
Publication Date: 2015-02

Variant appearance in text: BRCA2: 8754G>A
PubMed Link: 25382762
Variant Present in the following documents:
  • Main text
  • humu0036-0210-sd1.pdf
  • humu0036-0210.pdf
View BVdb publication page



Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Finkelman, Brian S BS; Rubinstein, Wendy S WS; Friedman, Sue S; Friebel, Tara M TM; Dubitsky, Shera S; Schonberger, Niecee Singer NS; Shoretz, Rochelle R; Singer, Christian F CF; Blum, Joanne L JL; Tung, Nadine N; Olopade, Olufunmilayo I OI; Weitzel, Jeffrey N JN; Lynch, Henry T HT; Snyder, Carrie C; Garber, Judy E JE; Schildkraut, Joellen J; Daly, Mary B MB; Isaacs, Claudine C; Pichert, Gabrielle G; Neuhausen, Susan L SL; Couch, Fergus J FJ; van't Veer, Laura L; Eeles, Rosalind R; Bancroft, Elizabeth E; Evans, D Gareth DG; Ganz, Patricia A PA; Tomlinson, Gail E GE; Narod, Steven A SA; Matloff, Ellen E; Domchek, Susan S; Rebbeck, Timothy R TR
Publication Date: 2012-04-20

Variant appearance in text: BRCA2: E2918E
PubMed Link: 22430266
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

Bmc Medical Genetics
Hansen, Thomas V O TV; Bisgaard, Marie Luise ML; Jønson, Lars L; Albrechtsen, Anders A; Filtenborg-Barnkob, Bettina B; Eiberg, Hans H; Ejlertsen, Bent B; Nielsen, Finn C FC
Publication Date: 2008-07-02

Variant appearance in text:
PubMed Link: 18597679
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-58.pdf
View BVdb publication page