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Article

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

American journal of human genetics - 2 Aug 2018

Evans D Gareth R, van Veen Elke M, Byers Helen J, Wallace Andrew J, Ellingford Jamie M, Beaman Glenda, Santoyo-Lopez Javier, Aitman Timothy J, Eccles Diana M, Lalloo Fiona I, Smith Miriam J, Newman William G

Abstract excerpt

Pathogenic variants in BRCA1 or BRCA2 are identified in ∼20% of families with multiple individuals affected by early-onset breast and/or ovarian cancer. Extensive searches for additional highly penetrant genes or alternative mutational mechanisms altering BRCA1 or BRCA2 have not explained the missing heritability. Here, we report a dominantly inherited 5' UTR variant associated with epigenetic BRCA1 silencing due...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30075112
DOI: 10.1016/j.ajhg.2018.07.002
PMCID: PMC6080768

Genes

BRCA1
BRCA2

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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