Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P919S
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BRCA1

NM_007294.4:p.P919S

Associated Papers

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and FANCF expression in ovarian carcinomas.

Moes-Sosnowska J et al.

Cancer Biology & Therapy, 2019

30822218 (PubMed )
Supplement: kcbt-20-06-1579955-s001.zip › Supplementary_information › Supplementary_Data_1_Revised_Clinical_impor_2017CBT10962_JMoes-Sosnowska_15_01_2019.pdf

Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls.

Liu D et al.

Aging, 2018

BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.

Venkateshwari A et al.

Journal of Breast Cancer, 2017

Genetics of breast cancer: a topic in evolution.

Shiovitz S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015

Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis.

Pabalan N et al.

Breast Cancer Research and Treatment, 2013

Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy.

Silvestri V et al.

Breast Cancer Research and Treatment, 2011

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM et al.

Breast Cancer Research : Bcr, 2011

A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

Kote-Jarai Z et al.

British Journal of Cancer, 2009

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

De Nicolo A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F et al.

Journal of Human Genetics, 2008

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.

Frank B et al.

Bmc Cancer, 2007

Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.

Rutter JL et al.

Human Mutation, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."