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Article

CHEK2 Germline Variants in Cancer Predisposition: Whole Genome Sequencing Results.

International journal of molecular sciences - 25 Aug 2026

Nemtsova Marina V, Makarova Maria V, Danishevich Anastasiia M, Byakhova Maria M, Mishina Olesya S, Kiseleva Alevtina E, Belenikin Maxim S, Krinitsina Anastasia A, Sagaydak Olesya V, Semenova Anna B, Bodunova Natalia A, Khatkov Igor E, Demidova Irina A, Tsukanov Aleksey S, Galkin Vsevolod N, Gadzhyeva Saida M

Abstract excerpt

While pathogenic germline CHEK2 variants are known to increase cancer risk, there is currently insufficient evidence regarding the precise risk of developing malignant neoplasms associated with specific missense variants or variants of uncertain significance. As a result, no clear clinical guidelines exist regarding consultation, monitoring and specific treatment options for those patients. For the first time in...

Read the complete abstract on PubMed

Topics

Humans
Checkpoint Kinase 2
Genetic Predisposition to Disease
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Whole Genome Sequencing

Male

Middle Aged

Neoplasms

Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 42737501
DOI: 10.3390/ijms27177602
PMCID: PMC13566504

Genes

CHEK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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