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Article

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

Human molecular genetics - 1 Jun 2015

Loke Johnny, Pearlman Alexander, Upadhyay Kinnari, Tesfa Lydia, Shao Yongzhao, Ostrer Harry

Abstract excerpt

Heritable mutations in the BRCA1 and BRCA2 and other genes in the DNA double-strand break (DSB) repair pathway disrupt binding of the encoded proteins, transport into the nucleus and initiation of homologous recombination, thereby increasing cancer risk [Scully, R., Chen, J., Plug, A., Xiao, Y., Weaver, D., Feunteun, J., Ashley, T. and Livingston, D.M. (1997) Association of BRCA1 with Rad51 in mitotic and meiotic...

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Topics

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Share to BRCA1 Protein
Share to DNA Breaks, Double-Stranded

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fanconi Anemia Complementation Group D2 Protein

Share to Fanconi Anemia Complementation Group N Protein

Share to Molecular Sequence Annotation

Share to Protein Processing, Post-Translational

Share to Recombinational DNA Repair

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 25652403
DOI: 10.1093/hmg/ddv048

Genes

BRCA1
BRCA2
FANCC
FANCD2
NBN
PALB2
BARD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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