BRCA1 c.1978G>C ;(p.V660L)

Variant ID: 17-41245570-C-G

NM_007294.3(BRCA1):c.1978G>C;(p.V660L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Association of the PROGINS PgR polymorphism with susceptibility to female reproductive cancer: A meta-analysis of 30 studies.

Plos One
Zhou, Chen C; Zou, Xiangman X; Wen, Xiaosha X; Guo, Zifen Z
Publication Date: 2022

Variant appearance in text: BRCA1: Val660Leu
PubMed Link: 35839271
Variant Present in the following documents:
  • pone.0271265.pdf
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: V660L
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The association between single nucleotide polymorphisms and ovarian cancer risk: A systematic review and network meta-analysis.

Cancer Medicine
Hu, Jia J; Xu, Zhe Z; Ye, Zhuomiao Z; Li, Jin J; Hao, Zhinan Z; Wang, Yongjun Y
Publication Date: 2022-05-30

Variant appearance in text: BRCA1: Val660Leu
PubMed Link: 35637613
Variant Present in the following documents:
  • CAM4-12-541.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 1978G>C; Val660Leu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: V660L
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: BRCA1: Val660Leu
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



In search of breast cancer culprits: suspecting the suspected and the unsuspected.

Breast Cancer : Basic And Clinical Research
Dimri, Goberdhan P GP
Publication Date: 2008

Variant appearance in text: BRCA1: V660L
PubMed Link: 21655367
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer.

Bmc Cancer
Wilcox, Cathy B CB; Feddes, Grace O GO; Willett-Brozick, Joan E JE; Hsu, Lih-Ching LC; DeLoia, Julie A JA; Baysal, Bora E BE
Publication Date: 2007-12-11

Variant appearance in text: BRCA1: V660L
PubMed Link: 18070364
Variant Present in the following documents:
  • Main text
  • 1471-2407-7-223.pdf
View BVdb publication page



No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.

Breast Cancer Research : Bcr
Spurdle, Amanda B AB; Hopper, John L JL; Chen, Xiaoqing X; McCredie, Margaret R E MR; Giles, Graham G GG; Newman, Beth B; Chenevix-Trench, Georgia G; Khanna, KumKum K
Publication Date: 2002

Variant appearance in text: BRCA1: Val660Leu
PubMed Link: 12473176
Variant Present in the following documents:
  • bcr534.pdf
View BVdb publication page



A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk.

Proceedings Of The National Academy Of Sciences Of The United States Of America
De Vivo, Immaculata I; Huggins, Gordon S GS; Hankinson, Susan E SE; Lescault, Pamela J PJ; Boezen, Marike M; Colditz, Graham A GA; Hunter, David J DJ
Publication Date: 2002-09-17

Variant appearance in text: BRCA1: V660L
PubMed Link: 12218173
Variant Present in the following documents:
  • Main text
View BVdb publication page