Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E111K
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BRCA1

NM_007294.4:p.E111K

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Progesterone Receptor Gene Polymorphisms and Breast Cancer Risk.

Vang A et al.

Endocrinology, 2023

Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.

Jia X et al.

Oncotargets and Therapy, 2021

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s002.xlsx › Sheet1

Polymorphisms of progesterone receptor and ovarian cancer risk: a systemic review and meta-analysis.

Liao J et al.

The Journal of Obstetrics and Gynaecology Research, 2015

Progesterone receptor PROGINS and +331G/A polymorphisms confer susceptibility to ovarian cancer: a meta-analysis based on 17 studies.

Liu T et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M et al.

Plos One, 2013

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.

Zhang L et al.

Breast Cancer Research and Treatment, 2011

Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies.

Johnatty SE et al.

Breast Cancer Research and Treatment, 2008

CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.

Cheung LW et al.

Febs Letters, 2007

Genetic variation in the progesterone receptor gene and ovarian cancer risk.

Terry KL et al.

American Journal of Epidemiology, 2005

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P et al.

Human Mutation, 2003

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

De Vivo I et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

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