Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review
| Autor: | B. Jorritsma, Helga Westers, Renee C. Niessen, Carli M. J. Tops, H. J. van Kranen, Rolf H. Sijmons, C. L. E. Siezen, J. Varkevisser, Frederik J. Hes, Juul T. Wijnen, Alain Knopperts, R. C. Heine-Broring, Ellen Kampman, Maartje Nielsen, Yvonne J. Vos |
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| Přispěvatelé: | Ethical, Legal, Social Issues in Genetics (ELSI), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Faculty of Psychology and Educational Sciences, Clinical sciences, Medical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Oncology
Male Cancer Research Nutrition and Disease Colorectal cancer gene-mutations Gene mutation Bioinformatics Germline DNA Glycosylases Adenomatous Polyps Familial myh mutations Voeding en Ziekte Medicine Genetics (clinical) Netherlands medicine.diagnostic_test Adenomatous Polyps/genetics Middle Aged Lynch syndrome frequency Female Colorectal Neoplasms Adult MUTYH medicine.medical_specialty carriers Bethesda criteria Young Adult Germline mutation Internal medicine Colorectal Neoplasms Hereditary Nonpolyposis/genetics Genetics Humans lynch-syndrome Genetic Predisposition to Disease consumption Germ-Line Mutation Molecular epidemiology Aetiology screening and detection [NCEBP 1] Genetic testing Aged VLAG colon Young age business.industry Microsatellite instability DNA Glycosylases/genetics medicine.disease Colorectal Neoplasms/genetics Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Mutation identification microsatellite instability business feasibility |
| Zdroj: | Familial Cancer, 12(1), 43-50 Familial Cancer, 12, 43-50 Familial Cancer, 12(1), 43-50. SPRINGER Familial Cancer, 12, 1, pp. 43-50 Familial Cancer 12 (2013) 1 |
| ISSN: | 1389-9600 |
| Popis: | Item does not contain fulltext In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family history, typically undergo testing for molecular signs of Lynch syndrome in their tumors. In the absence of these signs, DNA testing for germline mutations associated with other known tumor syndromes is usually not performed. However, a few studies in large series of CRC patients suggest that in a small percentage of CRC cases, bi-allelic MUTYH germline mutations can be found in the absence of the MUTYH-associated polyposis phenotype. This has not been studied in the Dutch population. Therefore, we analyzed the MUTYH gene for mutations in 89 patients with microsatellite-low or stable CRC cancer diagnosed before the age of 40 years or otherwise meeting the Bethesda criteria, all of them without a polyposis phenotype. In addition, we studied a series of 693 non-CRC patients with 1-13 adenomatous colorectal polyps for the MUTYH hotspot mutations Y179C, G396D and P405L. No bi-allelic MUTYH mutations were observed. Our data suggest that the contribution of bi-allelic MUTYH mutations to the development of CRC in Dutch non-polyposis patients that meet clinical genetic referral criteria, and to the development of low number of colorectal adenomas in non-CRC patients, is likely to be low. |
| Databáze: | OpenAIRE |
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