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Quehenberger, F; Vasen, HF; van Houwelingen, HC.
Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.
J Med Genet. 2005; 42(6):491-496 [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Quehenberger Franz

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BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is caused by germline mutations of mismatch repair genes, usually in hMLH1 or hMSH2. All earlier studies on penetrance except one population based study were conducted in HNPCC families and did not correct for the way in which these families were ascertained. OBJECTIVE: To obtain estimates of the risk of colorectal cancer (CRC) and endometrial cancer (EC) for carriers of disease causing mutations of the hMSH2 and hMLH1 genes. METHODS: Families with known germline mutations of hMLH1 (n = 39) and hMSH2 (n = 45) were extracted from the Dutch HNPCC cancer registry. Ascertainment-corrected maximum likelihood estimation was carried out on a competing risks model for cancer of the colorectum and endometrium. RESULTS: Both loci were analysed jointly as there was no significant difference in risk (p = 0.08). At age 70, colorectal cancer risk for men was 26.7% (95% confidence interval, 12.6% to 51.0%) and for women, 22.4% (10.6% to 43.8%); the risk for endometrial cancer was 31.5% (11.1% to 70.3%). CONCLUSIONS: Current estimates of the CRC risk of mutations to the hMLH1 and hMSH2 locus should be replaced by considerably lower risks which account for the selection of the families.
Find related publications in this database (using NLM MeSH Indexing)
Adaptor Proteins, Signal Transducing -
Adult -
Aged -
Carrier Proteins - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Endometrial Neoplasms - genetics
Female - genetics
Genetic Predisposition to Disease - genetics
Germ-Line Mutation - genetics
Heterozygote Detection - genetics
Humans - genetics
Likelihood Functions - genetics
Male - genetics
Middle Aged - genetics
MutS Homolog 2 Protein - genetics
Nuclear Proteins - genetics
Pedigree - genetics

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