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Article

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).

Journal of medical genetics - 1 Dec 2014

Newton K, Jorgensen N M, Wallace A J, Buchanan D D, Lalloo F, McMahon R F T, Hill J, Evans D G

Abstract excerpt

BACKGROUND AND AIMS: Lynch syndrome (LS) patients have DNA mismatch repair deficiency and up to 80% lifetime risk of colorectal cancer (CRC). Screening of mutation carriers reduces CRC incidence and mortality. Selection for constitutional mutation testing relies on family history (Amsterdam and Bethesda Guidelines) and tumour-derived biomarkers. Initial biomarker analysis uses mismatch repair protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25280751
DOI: 10.1136/jmedgenet-2014-102552
PMCID: PMC5159427

Genes

MLH1
BRAF

Variants

Provenance

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