BRCA2 c.2111del ;(p.P704Qfs*26)

Variant ID: 13-32910599-AC-A

NM_000059.3(BRCA2):c.2111del;(p.P704Qfs*26)

This variant was identified in 4 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: 2111del; Pro704fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.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: 2111del; Pro704fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Breast Cancer Research And Treatment
Felix, Gabriela E S GES; Guindalini, Rodrigo Santa Cruz RSC; Zheng, Yonglan Y; Walsh, Tom T; Sveen, Elisabeth E; Lopes, Taisa Manuela Machado TMM; Côrtes, Juliana J; Zhang, Jing J; Carôzo, Polyanna P; Santos, Irlânia I; Bonfim, Thaís Ferreira TF; Garicochea, Bernardo B; Toralles, Maria Betânia Pereira MBP; Meyer, Roberto R; Netto, Eduardo Martins EM; Abe-Sandes, Kiyoko K; King, Mary-Claire MC; de Oliveira Nascimento, Ivana Lucia IL; Olopade, Olufunmilayo I OI
Publication Date: 2022-06

Variant appearance in text: BRCA2: 2111delC
PubMed Link: 35353237
Variant Present in the following documents:
  • Main text
  • 10549_2022_Article_6560.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: 2111delC; Pro704Glnfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page