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Article

BRCA1/2 germline missense mutations: a systematic review.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) - 1 May 2018

Corso Giovanni, Feroce Irene, Intra Mattia, Toesca Antonio, Magnoni Francesca, Sargenti Manuela, Naninato Paola, Caldarella Pietro, Pagani Gianmatteo, Vento Annarita, Veronesi Paolo, Bonanni Bernardo, Galimberti Viviana

Abstract excerpt

Hereditary breast and ovarian cancer is an inherited syndrome associated with BRCA1/2 germline defects. The identified mutations are classified as missense, large deletion, insertion, nonsense and splice-site variants with a deleterious impact on BRCA1/2 function. Part of these forms the well-documented truncating mutations, and missense variants represent a clinical dilemma as the pathogenic role is yet to be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28277317
DOI: 10.1097/CEJ.0000000000000337

Genes

BRCA1
BRCA2

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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