BRCA2 c.3002C>G ;(p.S1001*)

Variant ID: 13-32911494-C-G

NM_000059.3(BRCA2):c.3002C>G;(p.S1001*)

This variant was identified in 6 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: 3002C>G; S1001*; rs1555283001
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: 3002C>G; Ser1001Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes.

Nature Communications
Ansari-Pour, Naser N; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Sanni, Ayodele A; Ajani, Mustapha M; Reynier, Jean-Baptiste JB; Tapinos, Avraam A; Pitt, Jason J JJ; Dentro, Stefan S; Woodard, Anna A; Rajagopal, Padma Sheila PS; Fitzgerald, Dominic D; Gruber, Andreas J AJ; Odetunde, Abayomi A; Popoola, Abiodun A; Falusi, Adeyinka G AG; Babalola, Chinedum Peace CP; Ogundiran, Temidayo T; Ibrahim, Nasiru N; Barretina, Jordi J; Van Loo, Peter P; Chen, Mengjie M; White, Kevin P KP; Ojengbede, Oladosu O; Obafunwa, John J; Huo, Dezheng D; Wedge, David C DC; Olopade, Olufunmilayo I OI
Publication Date: 2021-11-26

Variant appearance in text: BRCA2: S1001X
PubMed Link: 34836952
Variant Present in the following documents:
  • 41467_2021_27079_MOESM4_ESM.xlsx, sheet 1
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: 3002C>G; Ser1001Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 3002C>G; Ser1001X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutational and transcriptomic profiling of acute leukemia of ambiguous lineage reveals obscure but clinically important lineage bias.

Haematologica
Lao, Zhen-Tang ZT; Ding, Ling-Wen LW; An, Omer O; Hattori, Norimichi N; Sun, Qiao-Yang QY; Tan, Kar-Tong KT; Mayakonda, Anand A; Chuan, Wong Gee WG; Madan, Vikas V; Lin, De-Chen DC; Yang, Henry H; Koeffler, H Phillip HP
Publication Date: 2019-05

Variant appearance in text: BRCA2: S1001*
PubMed Link: 30514800
Variant Present in the following documents:
  • Main text
View BVdb publication page