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Article

Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.

Breast cancer research : BCR - 20 Sept 2011

Muranen Taru A, Greco Dario, Fagerholm Rainer, Kilpivaara Outi, Kämpjärvi Kati, Aittomäki Kristiina, Blomqvist Carl, Heikkilä Päivi, Borg Ake, Nevanlinna Heli

Abstract excerpt

INTRODUCTION: Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation...

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Source

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Identifiers

PMID: 21542898
DOI: 10.1186/bcr3015
PMCID: PMC3262202

Genes

CHEK2
CALCOCO1
CLCA1
LRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21542898-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.PMID 21542898Read ↗

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Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.Semantic proximity Read ↗

Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association ConsortiumSemantic proximity Read ↗

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.Semantic proximity Read ↗

Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.Semantic proximity Read ↗

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The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families.Semantic proximity Read ↗

The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry.Semantic proximity Read ↗

Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the <i>CHEK2*1100delC</i> Germline MutationSemantic proximity Read ↗

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