BRCA1 c.4185+2684A>G

Variant ID: 17-41240277-T-C

NM_007294.3(BRCA1):c.4185+2684A>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Body mass index and colorectal cancer risk: A Mendelian randomization study.

Cancer Science
Suzuki, Shiori S; Goto, Atsushi A; Nakatochi, Masahiro M; Narita, Akira A; Yamaji, Taiki T; Sawada, Norie N; Katagiri, Ryoko R; Iwagami, Masao M; Hanyuda, Akiko A; Hachiya, Tsuyoshi T; Sutoh, Yoichi Y; Oze, Isao I; Koyanagi, Yuriko N YN; Kasugai, Yumiko Y; Taniyama, Yukari Y; Ito, Hidemi H; Ikezaki, Hiroaki H; Nishida, Yuichiro Y; Tamura, Takashi T; Mikami, Haruo H; Takezaki, Toshiro T; Suzuki, Sadao S; Ozaki, Etsuko E; Kuriki, Kiyonori K; Takashima, Naoyuki N; Arisawa, Kokichi K; Takeuchi, Kenji K; Tanno, Kozo K; Shimizu, Atsushi A; Tamiya, Gen G; Hozawa, Atsushi A; Kinoshita, Kengo K; Wakai, Kenji K; Sasaki, Makoto M; Yamamoto, Masayuki M; Matsuo, Keitaro K; Tsugane, Shoichiro S; Iwasaki, Motoki M
Publication Date: 2021-04

Variant appearance in text: rs8176166
PubMed Link: 33506574
Variant Present in the following documents:
  • CAS-112-1579-s001.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: BRCA1: 4185+2684A>G; rs8176166
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: rs8176166
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

Nucleic Acids Research
Tessereau, Chloé C; Lesecque, Yann Y; Monnet, Nastasia N; Buisson, Monique M; Barjhoux, Laure L; Léoné, Mélanie M; Feng, Bingjian B; Goldgar, David E DE; Sinilnikova, Olga M OM; Mousset, Sylvain S; Duret, Laurent L; Mazoyer, Sylvie S
Publication Date: 2014-08

Variant appearance in text: rs8176166
PubMed Link: 25034697
Variant Present in the following documents:
  • supp_gku639_nar-00908-d-2014-File008.xlsx, sheet 1
View BVdb publication page



Genetic variation of the brca1 and brca2 genes in macedonian patients.

Balkan Journal Of Medical Genetics : Bjmg
Maleva, I I; Madjunkova, S S; Bozhinovski, G G; Smickova, E E; Kondov, G G; Spiroski, Z Z; Arsovski, A A; Plaseska-Karanfilska, D D
Publication Date: 2012-12

Variant appearance in text: rs8176166
PubMed Link: 24052750
Variant Present in the following documents:
  • Main text
  • bjmg-15-02a-81.pdf
View BVdb publication page



Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

American Journal Of Medical Genetics. Part A
Carter, Tonia C TC; Pangilinan, Faith F; Troendle, James F JF; Molloy, Anne M AM; VanderMeer, Julia J; Mitchell, Adam A; Kirke, Peadar N PN; Conley, Mary R MR; Shane, Barry B; Scott, John M JM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2011-01

Variant appearance in text: rs8176166
PubMed Link: 21204206
Variant Present in the following documents:
  • Main text
View BVdb publication page



The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies.

Bmc Genetics
Pereira, Lutécia H Mateus LH; Pineda, Marbin A MA; Rowe, William H WH; Fonseca, Libia R LR; Greene, Mark H MH; Offit, Kenneth K; Ellis, Nathan A NA; Zhang, Jinghui J; Collins, Andrew A; Struewing, Jeffery P JP
Publication Date: 2007-10-04

Variant appearance in text: rs8176166
PubMed Link: 17916242
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

Breast Cancer Research : Bcr
Baynes, Caroline C; Healey, Catherine S CS; Pooley, Karen A KA; Scollen, Serena S; Luben, Robert N RN; Thompson, Deborah J DJ; Pharoah, Paul D P PD; Easton, Douglas F DF; Ponder, Bruce A J BA; Dunning, Alison M AM; ,
Publication Date: 2007

Variant appearance in text: rs8176166
PubMed Link: 17428325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs8176166
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page



Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

Breast Cancer Research : Bcr
Cox, David G DG; Kraft, Peter P; Hankinson, Susan E SE; Hunter, David J DJ
Publication Date: 2005

Variant appearance in text: rs8176166
PubMed Link: 15743496
Variant Present in the following documents:
  • Main text
  • bcr973.pdf
View BVdb publication page