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Article

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.

Epigenetics - 1 Jan 2015

Flower Kirsty J, Shenker Natalie S, El-Bahrawy Mona, Goldgar David E, Parsons Michael T, Spurdle Amanda B, Morris Joanna R, Brown Robert, Flanagan James M

Abstract excerpt

Germline pathogenic mutations in BRCA1 increase risk of developing breast cancer. Screening for mutations in BRCA1 frequently identifies sequence variants of unknown pathogenicity and recent work has aimed to develop methods for determining pathogenicity. We previously observed that tumor DNA methylation can differentiate BRCA1-mutated from BRCA1-wild type tumors. We hypothesized that we could predict...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26727311
DOI: 10.1080/15592294.2015.1111504
PMCID: PMC4844213

Genes

BRCA1
BACH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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