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Article

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Human genomics - 8 Feb 2026

Can Nisan Denizce, Akcay Izzet Mehmet, Celik Elifnaz, Ciftci Ceren, Unal Busra, Agaoglu Nihat Bugra, Doganay Hamdi Levent, Dinler Doganay Gizem

Abstract excerpt

Multigene panel testing (MGPT) is a powerful tool for identifying pathogenic variants (PVs) underlying hereditary cancers. However, the clinical interpretation of variants of uncertain significance (VUS) remains a major challenge, particularly in populations underrepresented in population genomic databases. In this study, we analyzed 25 cancer susceptibility genes in a Turkish cohort comprising 1293 breast cancer...

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Source

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Identifiers

PMID: 41656315
DOI: 10.1186/s40246-026-00915-0
PMCID: PMC12918020

Genes

CHEK2
ATM
BRCA1
BRCA2
MLH1
MSH2
MUTYH
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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