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Article

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Breast cancer research and treatment - 1 May 2025

Tervasmäki Anna, Kumpula Timo A, Grip Mervi, Koivuluoma Susanna, Seuranen Meeri, Winqvist Robert, Mantere Tuomo, Pylkäs Katri

Abstract excerpt

PURPOSE: Several variants in DNA damage response (DDR) genes increase the probability to develop breast cancer and show enrichment in Northern Finland. Here, the population prevalence and risk estimations were refined for sixteen recurrent pathogenic/likely pathogenic DDR gene variants. METHODS: Variant genotyping was performed in 2343 unselected Northern Finnish breast cancer cases and 4607 cancer-free controls,...

Read the complete abstract on PubMed

Topics

Humans
Female
Breast Neoplasms
Middle Aged
Genetic Predisposition to Disease
DNA Damage

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

Adult

Aged

Finland

BRCA1 Protein

Genotype

Case-Control Studies

Alleles

Ataxia Telangiectasia Mutated Proteins

Fanconi Anemia Complementation Group N Protein

Checkpoint Kinase 2

BRCA2 Protein

Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 40009290
DOI: 10.1007/s10549-025-07634-5
PMCID: PMC11953123

Genes

PALB2
ATM
BRCA1
CHEK2
FANCM
MCPH1
BRCA2
RAD50

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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