BRCA2 c.3296del ;(p.S1099*)

Variant ID: 13-32911788-TC-T

NM_000059.3(BRCA2):c.3296del;(p.S1099*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 3296del
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s005.xlsx, sheet 2
View BVdb publication page



Array genotyping as diagnostic approach in medical genetics.

Molecular Genetics & Genomic Medicine
Witsch-Baumgartner, Martina M; Schwaninger, Gunda G; Schnaiter, Simon S; Kollmann, Franziska F; Burkhard, Silja S; Gröbner, Rebekka R; Mühlegger, Beatrix B; Schamschula, Esther E; Kirchmeier, Peter P; Zschocke, Johannes J
Publication Date: 2022-09

Variant appearance in text: BRCA2: 3296delC
PubMed Link: 35912641
Variant Present in the following documents:
  • MGG3-10-e2016.pdf
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 3296delC
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 4
View BVdb publication page



Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Oncotarget
Ratajska, Magdalena M; Koczkowska, Magdalena M; Żuk, Monika M; Gorczyński, Adam A; Kuźniacka, Alina A; Stukan, Maciej M; Biernat, Wojciech W; Limon, Janusz J; Wasąg, Bartosz B
Publication Date: 2017-11-24

Variant appearance in text: BRCA2: 3296delC
PubMed Link: 29254167
Variant Present in the following documents:
  • oncotarget-08-101325.pdf
View BVdb publication page