| Autor: | U. Moog, C. L. M. Marcelis, C. Tops, H. W. H. M. van der Putten, Ludy C.H.W. Lutgens |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Oncology
congenital hereditary and neonatal diseases and abnormalities Cancer Research medicine.medical_specialty Colorectal cancer Genetic counseling nutritional and metabolic diseases Cancer Biology medicine.disease Debulking digestive system diseases Lynch syndrome Germline mutation Internal medicine Genetics medicine Cancer research PMS2 Ovarian cancer Genetics (clinical) |
| Zdroj: | Familial Cancer. 1:109-111 |
| ISSN: | 1389-9600 |
| DOI: | 10.1023/a:1013865323890 |
| Popis: | Hereditary Non-Polyposis Colorectal Cancer (HNPCC, Lynch syndrome) is an autosomal dominant condition of cancer susceptibility with high penetrance, characterised by early onset of colon tumours as well as a variety of extracolonic tumours including ovarian cancer and, in particular, cancer of the endometrium. Germline mutations in one of five DNA-mismatch repair (MMR) genes (hMLH1, hMSH2, hMSH6, PMS1, PMS2) are known to cause HNPCC. To date, mutations in two of these genes (hMSH2 and hMLH1) are found in the majority of mutation positive families. Recent literature suggests that especially hMSH2 mutations are associated with extracolonic tumours. We describe two women from an HNPCC family carrying an hMSH2 mutation (deletion of exon 6 of this gene) who developed ovarian cancer. In these patients (full cousins) the ovarian cancers were noted for their aggressive development and rapid recurrence after surgical debulking and during regular multichemotherapy including Cisplatin. This report strengthens recent in vitro studies suggesting an involvement of MMR-gene mutations in ovarian cancer cell biology with decreased susceptibility to Cisplatin therapy. The possible implications for the therapy of ovarian cancer, the screening and genetic counselling of family members are discussed. |
| Databáze: | OpenAIRE |
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