BRCA2 c.6645del ;(p.S2216Pfs*13)

Variant ID: 13-32915137-AC-A

NM_000059.3(BRCA2):c.6645del;(p.S2216Pfs*13)

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: 6645del; Ser2216Profs*13
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences
Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2021

Variant appearance in text: BRCA2: 6645delC
PubMed Link: 34235180
Variant Present in the following documents:
  • Main text
  • fmolb-08-685174.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: 6645delC
PubMed Link: 30702160
Variant Present in the following documents:
  • Main text
  • IJC-145-962.pdf
View BVdb publication page



Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

Oncotarget
Lin, Po-Han PH; Kuo, Wen-Hung WH; Huang, Ai-Chu AC; Lu, Yen-Shen YS; Lin, Ching-Hung CH; Kuo, Sung-Hsin SH; Wang, Ming-Yang MY; Liu, Chun-Yu CY; Cheng, Fiona Tsui-Fen FT; Yeh, Ming-Hsin MH; Li, Huei-Ying HY; Yang, Yu-Hsuan YH; Hsu, Yu-Hua YH; Fan, Sheng-Chih SC; Li, Long-Yuan LY; Yu, Sung-Liang SL; Chang, King-Jen KJ; Chen, Pei-Lung PL; Ni, Yen-Hsuan YH; Huang, Chiun-Sheng CS
Publication Date: 2016-02-16

Variant appearance in text: BRCA2: 6645delC
PubMed Link: 26824983
Variant Present in the following documents:
  • Main text
  • oncotarget-07-8310.pdf
View BVdb publication page