Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
| Autor: | Riccardo Fodde, S. Kloosterman, Nicoline Hoogerbrugge, Jeanine J. Houwing-Duistermaat, S. Verhoef, A Wagner, M. G. E. M. Ausems, Frederik J. Hes, Hans Morreau, Patrick Franken, H. van der Klift, T H C M Reinards, A H J T Bröcker-Vriends, C. Tops, Ernst J. Kuipers, Juul T. Wijnen, E. B. Gomez Garcia, Martijn H. Breuning, Rolf H. Sijmons, Cora M. Aalfs, Hans F. A. Vasen, Maartje Nielsen, Fred H. Menko, Marjan M. Weiss |
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| Přispěvatelé: | VU University medical center, Pathology, Clinical Genetics, Epidemiology, Internal Medicine, Gastroenterology & Hepatology, Medical Imaging and Physical Sciences, Faculty of Medicine and Pharmacy, Faculty of Economic and Social Sciences and Solvay Business School, International Relations and Mobility, Faculty of Arts and Philosophy, Faculty of Psychology and Educational Sciences, Clinical sciences, Medical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Male
APC GENE Genetics and epigenetic pathways of disease [NCMLS 6] Colorectal cancer DNA Mutational Analysis SOMATIC G-C->T-A MUTATIONS Inheritance Patterns Gene mutation Gastroenterology ONSET COLORECTAL-CANCER DNA Glycosylases FAMILIAL ADENOMATOUS POLYPOSIS genetics Genetics(clinical) Child Genetics (clinical) Molecular diagnosis prognosis and monitoring [UMCN 1.2] Netherlands Genetics biology MUTYH-Associated Polyposis Middle Aged Phenotype Adenomatous Polyposis Coli Female Colorectal Neoplasms GENE-MUTATIONS Adult Risk medicine.medical_specialty Adolescent Genotype Adenomatous polyposis coli NEOPLASIA Electronic Letter LESION Familial adenomatous polyposis Molecular epidemiology [NCEBP 1] Breast cancer Germline mutation MUTYH Translational research [ONCOL 3] Interventional oncology [UMCN 1.5] Internal medicine medicine Humans Genetic Predisposition to Disease Germ-Line Mutation Aged REPAIR Hereditary cancer and cancer-related syndromes [ONCOL 1] business.industry medicine.disease GERM-LINE MUTATIONS biology.protein business |
| Zdroj: | Journal of Medical Genetics, 42(9). BMJ Publishing Group Scopus-Elsevier Journal of Medical Genetics, 42, 9, pp. e54-1-e54 Nielsen, M, Franken, P F, Reinards, T H, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G, Brocker-Vriends, A H & Gomez Garcia, E B 2005, ' Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) ', Journal of Medical Genetics, vol. 42, no. 9 . https://doi.org/10.1136/jmg.2005.033217 JOURNAL OF MEDICAL GENETICS, 42(9):54. BMJ PUBLISHING GROUP Journal of Medical Genetics, 42, e54-1-e54 Journal of medical genetics, 42(9). BMJ Publishing Group |
| ISSN: | 0022-2593 |
| DOI: | 10.1136/jmg.2005.033217 |
| Popis: | Contains fulltext : 48879.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate the contribution of MYH associated polyposis coli (MAP) among polyposis families in the Netherlands, and the prevalence of colonic and extracolonic manifestations in MAP patients. METHODS: 170 patients with polyposis coli, who previously tested negative for APC mutations, were screened by denaturing gradient gel electrophoresis and direct sequencing to identify MYH germline mutations. RESULTS: Homozygous and compound heterozygous MYH mutations were identified in 40 patients (24%). No difference was found in the percentage of biallelic mutation carriers between patients with 10-99 polyps or 100-1000 polyps (29% in both groups). Colorectal cancer was found in 26 of the 40 patients with MAP (65%) within the age range 21 to 67 years (median 45). Complete endoscopic reports were available for 16 MAP patients and revealed five cases with gastro-duodenal polyps (31%), one of whom also presented with a duodenal carcinoma. Breast cancer occurred in 18% of female MAP patients, significantly more than expected from national statistics (standardised morbidity ratio = 3.75). CONCLUSIONS: Polyp numbers in MAP patients were equally associated with the attenuated and classical polyposis coli phenotypes. Two thirds of the MAP patients had colorectal cancer, 95% of whom were older than 35 years, and one third of a subset of patients had upper gastrointestinal lesions. Endoscopic screening of the whole intestine should be carried out every two years for all MAP patients, starting from age 25-30 years. The frequent occurrence of additional extraintestinal manifestations, such as breast cancer among female MAP patients, should be thoroughly investigated. |
| Databáze: | OpenAIRE |
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