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Article

Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.

Journal of medical genetics - 19 Apr 2024

Innella Giovanni, Ferrari Simona, Miccoli Sara, Luppi Elena, Fortuno Cristina, Parsons Michael T, Spurdle Amanda B, Turchetti Daniela

Abstract excerpt

BACKGROUND: BRCA1/2 testing is crucial to guide clinical decisions in patients with hereditary breast/ovarian cancer, but detection of variants of uncertain significance (VUSs) prevents proper management of carriers. The ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) BRCA1/2 Variant Curation Expert Panel (VCEP) has recently developed BRCA1/2 variant classification guidelines...

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Source

Identifiers

PMID: 38160042
DOI: 10.1136/jmg-2023-109694

Genes

BRCA1

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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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