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Article

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

Journal of medical genetics - 1 Jul 2018

Evans D Gareth, Woodward Emma, Harkness Elaine F, Howell Anthony, Plaskocinska Inga, Maher Eamonn R, Tischkowitz Marc D, Lalloo Fiona

Abstract excerpt

PURPOSE: The identification of BRCA1, BRCA2 or mismatch repair (MMR) pathogenic gene variants in familial breast/ovarian/colorectal cancer families facilitates predictive genetic testing of at-risk relatives. However, controversy still exists regarding overall lifetime risks of cancer in individuals testing positive. METHODS: We assessed the penetrance of BRCA1, BRCA2, MLH1 and MSH2 mutations in men and women...

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Source

Identifiers

PMID: 29483236
DOI: 10.1136/jmedgenet-2017-105223

Genes

BRCA1
BRCA2
MLH1
MSH2

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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