Evidence map›Paper›PMID 41981019›Full record

ArticleScientific reports2026

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

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

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Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Nurlan BaltayevDepartment of Surgical Oncology, Almaty Oncology Center, Almaty, 050000, Kazakhstan.
Saltanat AbdikerimLaboratory of Molecular Genetics, Institute of Genetics and Physiology, Almaty, 050060, Kazakhstan.
Georgiy AfoninOncology Department, Asfendiyarov Kazakh National Medical University, Almaty, 050012, Kazakhstan.
Arsen RasulovDepartment of Oncological Coloproctology, Lapino Cancer Center of MD Group, Moscow, 143081, Russian Federation.
Aigul ZhunussovaLaboratory of Molecular Genetics, Institute of Genetics and Physiology, Almaty, 050060, Kazakhstan.
Dilyara KaidarovaOncology Department, Asfendiyarov Kazakh National Medical University, Almaty, 050012, Kazakhstan.
Gulnur ZhunussovaLaboratory of Molecular Genetics, Institute of Genetics and Physiology, Almaty, 050060, Kazakhstan. gulnur_j@mail.ru.

Funding

Science Committee of the Ministry of Science and Higher Education of the Republic of Kazakhstan BR24992933
6 · The paper itself

Abstract

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 regions (> 1700 exons) and flanking noncoding sequences of 94 cancer-associated genes were analyzed using the Illumina TruSight Cancer NGS panel on blood-derived DNA. Results showed that 30 patients (19.4%) carried 31 PVs. Overall, 34.2% of patients had a family history of cancer, including 9.7% who had a family history of CRC. The most frequent germline PVs were in CHEK2 (22.58%) and APC (12.91%), followed by MLH1 (6.46%), MSH2 (6.46%), MSH6 (6.46%), MUTYH (6.46%), and BRCA1 (6.46%). Missense (35.5%) and frameshift (32.3%) variants predominated. A high number of PVs was found in individuals aged 18-44 years. Among overall identified PVs, six were novel: APC c.3405T > G, APC c.419_422delAGAG, PMS1 c.1258delC, MLH1 c.1291_1292delAT, NBN c.877delA, and EPCAM c.184 + 1G > A. The observed prevalence of clinically actionable PVs in both patients and their relatives highlights the potential clinical value of multigene panel testing and cascade screening strategies in Kazakhstan.

Indexed as

Colorectal NeoplasmsGerm-Line MutationAdultAgedFemaleGenetic Predisposition to DiseaseGenetic TestingHumansKazakhstanMaleMiddle AgedPrevalenceColorectal cancerFamily history of cancerHereditary tumor syndromeNext-generation sequencingPathogenic variantPrevalence

Identifiers

PMID41981019
PMCPMC13234293

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