Hereditary nonpolyposis colorectal cancer (lynch syndrome II) in Uruguay
| Autor: | Búrix Mechoso, Thomas C. Smyrk, Henry T. Lynch, Alejandra Dominguez, Alicia Vaglio, Roberto Quadrelli, Adriana Della Valle, Jane F. Lynch, Gladys Tedesco Bendin, Nora Alfano, Paula Kristo, Carlos Sarroca, Päivi Peltomäki, Susan T. Tinley, Anne E. Harty, Barbara Franklin |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Oncology medicine.medical_specialty Colorectal cancer Genetic counseling Genetic Carrier Screening Genetic Counseling Gastroenterology 03 medical and health sciences 0302 clinical medicine Germline mutation Internal medicine medicine Humans Genetic Testing Survival rate Germ-Line Mutation Adaptor Proteins Signal Transducing Aged 030304 developmental biology Genetic testing 0303 health sciences medicine.diagnostic_test business.industry Nuclear Proteins Microsatellite instability General Medicine Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Neoplasm Proteins Pedigree 3. Good health Survival Rate 030220 oncology & carcinogenesis Uruguay Lynch Syndrome II Female Carrier Proteins MutL Protein Homolog 1 business |
| Zdroj: | Diseases of the Colon & Rectum. 43:353-360 |
| ISSN: | 0012-3706 |
| DOI: | 10.1007/bf02258301 |
| Popis: | PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how thehMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for thehMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer. |
| Databáze: | OpenAIRE |
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