BRCA1 c.81-2433A>T

Variant ID: 17-41270229-T-A

NM_007294.3(BRCA1):c.81-2433A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.

Genes
Brignoni, Lucía L; Cappetta, Mónica M; Colistro, Valentina V; Sans, Mónica M; Artagaveytia, Nora N; Bonilla, Carolina C; Bertoni, Bernardo B
Publication Date: 2020-10-28

Variant appearance in text: rs8176092
PubMed Link: 33126731
Variant Present in the following documents:
  • Main text
  • genes-11-01272.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs8176092
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs8176092
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: rs8176092
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients.

Bmc Cancer
Cappetta, Mónica M; Berdasco, María M; Hochmann, Jimena J; Bonilla, Carolina C; Sans, Mónica M; Hidalgo, Pedro C PC; Artagaveytia, Nora N; Kittles, Rick R; Martínez, Miguel M; Esteller, Manel M; Bertoni, Bernardo B
Publication Date: 2015-05-27

Variant appearance in text: rs8176092
PubMed Link: 26012346
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1461.pdf
View BVdb publication page



Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment
Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL
Publication Date: 2011-06

Variant appearance in text: rs8176092
PubMed Link: 21161372
Variant Present in the following documents:
  • Main text
View BVdb publication page