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Article

A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.

British journal of cancer - 22 Aug 2017

Ellison Gillian, Wallace Andrew, Kohlmann Alexander, Patton Simon

Abstract excerpt

BACKGROUND: Thousands of clinically relevant variations in BRCA1 and BRCA2 have been discovered and this poses a significant challenge with respect to the accurate detection, analysis turn-around time, characterisation and interpretation of these sequence variants. METHODS: We evaluated the performance of different BRCA1/2 gene testing practices in routine diagnostic use in 20 European laboratories, with a focus...

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Identifiers

PMID: 28751759
DOI: 10.1038/bjc.2017.223
PMCID: PMC5572178

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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