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In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

Genes - 18 Jul 2024

Stella Stefania, Vitale Silvia Rita, Massimino Michele, Martorana Federica, Tornabene Irene, Tomarchio Cristina, Drago Melissa, Pavone Giuliana, Gorgone Cristina, Barone Chiara, Bianca Sebastiano, Manzella Livia

Abstract excerpt

Germline BRCA1/2 alteration has been linked to an increased risk of hereditary breast and ovarian cancer syndromes. As a result, genetic testing, based on NGS, allows us to identify a high number of variants of uncertain significance (VUS) or conflicting interpretation of pathogenicity (CIP) variants. The identification of CIP/VUS is often considered inconclusive and clinically not actionable for the patients'...

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Identifiers

PMID: 39062721
DOI: 10.3390/genes15070943
PMCID: PMC11276437

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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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