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Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Human molecular genetics - 15 Feb 2005

Shaag Avraham, Walsh Tom, Renbaum Paul, Kirchhoff Tomas, Nafa Khedoudja, Shiovitz Stacey, Mandell Jessica B, Welcsh Piri, Lee Ming K, Ellis Nathan, Offit Kenneth, Levy-Lahad Ephrat, King Mary-Claire

Abstract excerpt

Functional and genomic approaches can be integrated to screen efficiently for pathogenic alleles in founder populations. We applied such approaches to analysis of the cancer-associated cell cycle regulator CHEK2 in the Ashkenazi Jewish population. We first identified two extended haplotypes at CHEK2 that co-segregated with breast cancer in high-risk families. We sequenced CHEK2 in a case representing each...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15649950
DOI: 10.1093/hmg/ddi052

Genes

CHEK2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.PMID 15649950Read ↗

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