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Article

A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.

Journal of medical genetics - 1 Feb 2014

Bonaïti Bernard, Alarcon Flora, Andrieu Nadine, Bonadona Valérie, Dondon Marie-Gabrielle, Pennec Sophie, Stoppa-Lyonnet Dominique, Bonaïti-Pellié Catherine, Perdry Hervé

Abstract excerpt

BACKGROUND: In hereditary forms of cancer due to mutations of genes such as BRCA1 and BRCA2, methods have been proposed to predict the presence of a mutation in a family. METHODS: Relying on carriage probability computation is the most predictive, but scores are a good proxy and avoid using computer software. An empirical method, the Manchester scoring system, has been elaborated for BRCA1 and BRCA2 mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24343917
DOI: 10.1136/jmedgenet-2013-101674

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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