BRCA2 c.72del ;(p.G25Dfs*3)

Variant ID: 13-32893218-TA-T

NM_000059.3(BRCA2):c.72del;(p.G25Dfs*3)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 72del; Gly25fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA2: 72delA; G25Dfs
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS2.xlsx, sheet 2
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: 72delA; Gly25Aspfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Peerj
Nicolussi, Arianna A; Belardinilli, Francesca F; Mahdavian, Yasaman Y; Colicchia, Valeria V; D'Inzeo, Sonia S; Petroni, Marialaura M; Zani, Massimo M; Ferraro, Sergio S; Valentini, Virginia V; Ottini, Laura L; Giannini, Giuseppe G; Capalbo, Carlo C; Coppa, Anna A
Publication Date: 2019

Variant appearance in text: BRCA2: 72delA; Gly25Aspfs
PubMed Link: 31065452
Variant Present in the following documents:
  • Main text
  • peerj-07-6661.pdf
  • peerj-07-6661-s007.xlsx, sheet 1
View BVdb publication page