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Article

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Journal of human genetics - 1 Oct 2020

Aref-Eshghi Erfan, McGee Jacob D, Pedro Victor P, Kerkhof Jennifer, Stuart Alan, Ainsworth Peter J, Lin Hanxin, Volodarsky Michael, McLachlin Catherine Meg, Sadikovic Bekim

Abstract excerpt

Poly-ADP-ribose-polymerase inhibitor (PARPi) treatment is indicated for advanced-stage ovarian tumors with BRCA1/2 deficiency. The "BRCAness" status is thought to be attributed to a tumor phenotype associated with a specific epigenomic DNA methylation profile. Here, we examined the diagnostic impact of combined BRCA1/2 sequence, copy number, and promoter DNA methylation analysis, and evaluated whether genomic DNA...

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Identifiers

PMID: 32483276
DOI: 10.1038/s10038-020-0780-4
PMCID: PMC7449880

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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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