Article

Genetic and molecular analyses of candidate germline<i>BRIP1/FANCJ</i>variants implicated in breast and ovarian cancer

2023-07-11

Abstract excerpt

<h4>ABSTRACT</h4> Five rare variants in BRIP1/FANCJ , initially reported in ovarian (OC) or breast (BC) cancer cases by the adult hereditary cancer clinics, were investigated for their candidacy as clinically relevant variants. These variants were investigated genetically in a population exhibiting genetic drift and molecularly assayed for biological impact. Using in silico tools, population-based genetic database...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 494dba3c-7e3c-5c62-a74d-776d6a219afa
DOI: 10.1101/2023.07.03.23290133

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and molecular analyses of candidate germline<i>BRIP1/FANCJ</i>variants implicated in breast and ovarian cancerDOI 10.1101/2023.07.03.23290133Read

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.Semantic proximity Read

Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.Semantic proximity Read

Mutations in BRIP1 confer high risk of ovarian cancer.Semantic proximity Read

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.Semantic proximity Read

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.Semantic proximity Read

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.Semantic proximity Read

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

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

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

BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.Semantic proximity Read

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.Semantic proximity Read

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