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Article

Functional characterization of the RAD51D E233G genetic variant.

Pharmacogenetics and genomics - 1 Feb 2009

Nadkarni Aditi, Furda Amy, Rajesh Changanamkandath, McInnes Campbell, Ruch Randall J, Pittman Douglas L

Abstract excerpt

BACKGROUND AND OBJECTIVE: RAD51D, a paralog of the mammalian RAD51 gene, is an important component for DNA repair and telomere maintenance. A RAD51D variant, E233G, was initially identified as a potential susceptibility allele in high-risk, site-specific, familial breast cancer. We describe in this report, the effects of this amino acid change on RAD51D protein interaction and function. METHODS AND RESULTS: To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19033885
DOI: 10.1097/FPC.0b013e32831db2fd

Genes

RAD51
XRCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional characterization of the RAD51D E233G genetic variant.PMID 19033885Read ↗

The ATPase motif in RAD51D is required for resistance to DNA interstrand crosslinking agents and interaction with RAD51C.Semantic proximity Read ↗

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.Semantic proximity Read ↗

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.Semantic proximity Read ↗

The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women.Semantic proximity Read ↗

Structural Perturbations and Destabilizing Mutations in RAD51C and RAD51D Reveal Mechanisms of Cancer RiskSemantic proximity Read ↗

High-throughput mapping of 6,888 <i>RAD51D</i> variants identifies distinct biochemical functions needed for homologous recombination and olaparib responseSemantic proximity Read ↗

Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancersSemantic proximity Read ↗

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.Semantic proximity Read ↗

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