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Article

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal of medical genetics - 1 Feb 2022

Evans D Gareth, van Veen Elke Maria, Byers Helen J, Evans Sarah J, Burghel George J, Woodward Emma Roisin, Harkness Elaine F, Eccles Diana M, Greville-Haygate Stephanie L, Ellingford Jamie M, Bowers Naomi L, Pereira Marta, Wallace Andrew J, Howell Sasha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam Jane

Abstract excerpt

BACKGROUND: While the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predisposition genes. Here, we assessed the contribution of known breast cancer-associated genes to very early onset disease. METHODS: Sequencing of BRCA1, BRCA2, TP53 and...

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Identifiers

PMID: 33758026
DOI: 10.1136/jmedgenet-2020-107347
PMCID: PMC8788257

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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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