BRCA2 c.3343del ;(p.S1115Lfs*4)

Variant ID: 13-32911832-CT-C

NM_000059.3(BRCA2):c.3343del;(p.S1115Lfs*4)

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: 3343del; Ser1115fs
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: 3343del; Ser1115fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3343delT; Ser1115Leufs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Oncotarget
Solano, Angela Rosaria AR; Cardoso, Florencia Cecilia FC; Romano, Vanesa V; Perazzo, Florencia F; Bas, Carlos C; Recondo, Gonzalo G; Santillan, Francisco Bernardo FB; Gonzalez, Eduardo E; Abalo, Eduardo E; Viniegra, María M; Michel, José Davalos JD; Nuñez, Lina María LM; Noblia, Cristina Maria CM; Mc Lean, Ignacio I; Canton, Enrique Diaz ED; Chacon, Reinaldo Daniel RD; Cortese, Gustavo G; Varela, Eduardo Beccar EB; Greco, Martín M; Barrientos, María Laura ML; Avila, Silvia Adela SA; Vuotto, Hector Daniel HD; Lorusso, Antonio A; Podesta, Ernesto Jorge EJ; Mando, Oscar Gaspar OG
Publication Date: 2017-09-01

Variant appearance in text: BRCA2: 3343delT; Ser1115Leufs
PubMed Link: 28947987
Variant Present in the following documents:
  • Main text
  • oncotarget-08-60487.pdf
View BVdb publication page