BRCA2 c.8633_8691del ;(p.E2878Vfs*9)

Variant ID: 13-32950807-GAAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCT-G

NM_000059.3(BRCA2):c.8633_8691del;(p.E2878Vfs*9)

This variant was identified in 5 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: 8633_8754del
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
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: 8633_8755del
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA2: 8633_8755del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



The Progress of the Specific and Rapid Genetic Detection Methods for Ovarian Cancer Diagnosis and Treatment.

Technology In Cancer Research & Treatment
Dong, Kejun K; Zhang, Wei W; Cheng, Shuangshuang S; Shu, Wan W; Zhao, Rong R; Wang, Hongbo H
Publication Date: 2022

Variant appearance in text: BRCA2: 8633_8754del
PubMed Link: 36062718
Variant Present in the following documents:
  • Main text
  • 10.1177_15330338221114497.pdf
View BVdb publication page



Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One
Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES
Publication Date: 2012

Variant appearance in text: BRCA2: 8633_8754del
PubMed Link: 22970155
Variant Present in the following documents:
  • Main text
View BVdb publication page