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Article

Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.

Cancer research and treatment - 1 Oct 2022

Bozsik Anikó, Papp János, Grolmusz Vince Kornél, Patócs Attila, Oláh Edit, Butz Henriett

Abstract excerpt

PURPOSE: While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy. MATERIALS AND METHODS: Out of genetically tested 3,568 hereditary breast and ovarian cancer probands five, functionally not investigated variants with potential...

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Identifiers

PMID: 35167739
DOI: 10.4143/crt.2021.1078
PMCID: PMC9582465

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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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