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Article

Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.

Scientific reports - 14 Apr 2026

Baltayev Nurlan, Abdikerim Saltanat, Afonin Georgiy, Rasulov Arsen, Zhunussova Aigul, Kaidarova Dilyara, Zhunussova Gulnur

Abstract excerpt

Colorectal cancer (CRC) is a type of malignancy with a hereditary component. In Kazakhstan, the spectrum of germline pathogenic variants (PV) among individuals with CRC remains limited. In this study, multigene panel testing was performed on a Kazakhstani cohort of CRC patients and their relatives to better understand genetic risk factors. The study included 155 CRC patients and 92 healthy relatives. Whole coding...

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Source

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Identifiers

PMID: 41981019
DOI: 10.1038/s41598-026-48078-1
PMCID: PMC13234293

Genes

APC
MLH1
BRCA1
CHEK2
EPCAM
MSH2
MSH6
MUTYH
NBN
PMS1

Variants

Provenance

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