Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
| Autor: | B. G. Taal, P M Khan, J. T. Wijnen, Marie Luise Bisgaard, Gerrit Griffioen, L. Varesco, Lucio Bertario, Riccardo Fodde, Hans F. A. Vasen, J. Mohr, Fokko M. Nagengast, E. H. Meijers-Heijboer, Fred H. Menko, Jan H. Kleibeuker |
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| Přispěvatelé: | Guided Treatment in Optimal Selected Cancer Patients (GUTS), Other departments |
| Rok vydání: | 1996 |
| Předmět: |
Adult
Male Risk medicine.medical_specialty Amsterdam criteria Heterozygote Urologic Neoplasms Adolescent DNA Repair Colorectal cancer NETHERLANDS DNA Mutational Analysis Rectum Gastroenterology KINDREDS Stomach Neoplasms Internal medicine Intestinal Neoplasms Intestine Small medicine Carcinoma Humans Risk factor Aged Family Health Ovarian Neoplasms Hepatology business.industry Endometrial cancer Cancer Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases POLYPOSIS HOMOLOG TUMOR SPECTRUM medicine.anatomical_structure Genes Relative risk Mutation Female business |
| Zdroj: | Gastroenterology, 110(4), 1020-1027. W B SAUNDERS CO-ELSEVIER INC Gastroenterology, 110(4), 1020-1027. W.B. Saunders Ltd |
| ISSN: | 0016-5085 |
| Popis: | BACKGROUND & AIMS: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of carriers within affected families. The purpose of this study was to assess the age-specific cancer risk in a large series of gene carriers. METHODS: Thirty-four families were studied by mutation analysis. In 19 of these families, pathogenic mutations were found at hMSH2 or hMLH1. Of 382 relatives, 124 had a mutation in hMLH1 and 86 in hMSH2. RESULTS: The lifetime risk of colorectal cancer was the same in both groups of gene carriers (80%). The risk of endometrial cancer was greater in hMSH2 gene carriers compared with hMLH1 gene carriers (61% vs. 42%), but the difference was not statistically significant. A very high relative risk of cancer of the small bowel (relative risk of >100) was observed in carriers of either gene. Only the carriers of hMSH2 mutations had a significantly increased relative risk of cancer of the urinary tract (kidney and ureter) (relative risk of 75.3), stomach (relative risk of 19.3), and ovaries (relative risk of 8.0). CONCLUSIONS: This study provides estimates of cancer risk that may contribute to the appropriate management of gene carriers within families with hereditary nonpolyposis colorectal cancer. (Gastroenterology 1996 Apr;110(4):1020-7) |
| Databáze: | OpenAIRE |
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