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Article

Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.

Pathology oncology research : POR - 1 Jan 2006

Kámory Enikô, Tanyi Miklós, Kolacsek Orsolya, Olasz Judit, Tóth László, Damjanovich László, Csuka Orsolya

Abstract excerpt

The Bethesda guidelines may offer more useful criteria in patients' selection for germline mismatch repair gene mutation analysis than guidelines merely based on family background. An early onset double primary colorectal cancer patient with poor family history with MSI-H status was investigated for MLH1 promoter methylation, expression of the MLH1 and MSH2 gene by immunohistochemistry and mutations in the MLH1...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mismatch Repair

Share to DNA, Neoplasm

Share to Frameshift Mutation

Share to Germ-Line Mutation

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Source

Identifiers

PMID: 17189986
DOI: 10.1007/BF02893417

Genes

MLH1
MSH2

Variants

Provenance

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