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[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].

Magyar onkologia - 21 Mar 2025

Nagy Petra, Papp János, Grolmusz Kornél Vince, Bozsik Anikó, Pócza Tímea, Patócs Attila, Butz Henriett

Abstract excerpt

AIM: Our study assessed the prevalence of CHEK2 gene variants, including low-penetrance variants (lp-CHEK2: p.I157T, p.S428F, p.T476M) and their association with clinicopathological parameters in cancer patients and controls. METHODS: Germline genetic analysis of 1,280 breast and ovarian cancer (BOC), 191 young breast (<33 years, yBr), 568 nonbreast (non-BOC) and 96 endocrine cancer patients was performed using...

Read the complete abstract on PubMed

Topics

Humans
Checkpoint Kinase 2
Female
Breast Neoplasms
Hungary
Adult
Genetic Counseling

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

Genetic Predisposition to Disease

Middle Aged

Germ-Line Mutation

Ovarian Neoplasms

Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 40117483
PMCID: PMC11929572

Genes

CHEK2
BOC

Variants

Provenance

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