BRCA1 c.372C>A ;(p.I124=)

Variant ID: 17-41256208-G-T

NM_007294.3(BRCA1):c.372C>A;(p.I124=)

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: BRCA1: 372C>A
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: BRCA1: I124I
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Longitudinal analysis of a secondary BRCA2 mutation using digital droplet PCR.

The Journal Of Pathology. Clinical Research
Khalique, Saira S; Pettitt, Stephen J SJ; Kelly, Ger G; Tunariu, Nina N; Natrajan, Rachael R; Banerjee, Susana S; Lord, Christopher J CJ
Publication Date: 2020-01

Variant appearance in text: BRCA1: 372C>A
PubMed Link: 31577852
Variant Present in the following documents:
  • CJP2-6-3.pdf
View BVdb publication page



Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Breast Cancer Research : Bcr
Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH
Publication Date: 2008

Variant appearance in text: BRCA1: I124I
PubMed Link: 18627636
Variant Present in the following documents:
  • Main text
  • bcr2118.pdf
View BVdb publication page