Unusual presentation of Lynch Syndrome
| Autor: | Veronica P. C. C. Yu, Audrey Ardern-Jones, S. J. Payne, David Goudie, Ros Eeles, Susan Shanley, Marco Novelli, Ann Barrett, Sam Fisher, Ian M. Frayling, Rebecca A. Barnetson |
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| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities lcsh:QH426-470 Ovary Case Report medicine.disease_cause lcsh:RC254-282 RC0254 medicine Genetics(clinical) Urothelium neoplasms Genetics (clinical) Mutation business.industry Cancer nutritional and metabolic diseases medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Lynch syndrome Human genetics digestive system diseases lcsh:Genetics medicine.anatomical_structure Oncology Cancer research DNA mismatch repair Presentation (obstetrics) business |
| Zdroj: | Hereditary Cancer in Clinical Practice Yu, V P C C, Novelli, M, Payne, S J, Fisher, S, Barnetson, R A, Frayling, I M, Barrett, A, Goudie, D, Ardern-Jones, A, Eeles, R & Shanley, S 2009, ' Unusual presentation of Lynch Syndrome ', Hereditary cancer in clinical practice, vol. 7, no. 1, 12 . https://doi.org/10.1186/1897-4287-7-12 Hereditary Cancer in Clinical Practice, Vol 7, Iss 1, p 12 (2009) |
| ISSN: | 1897-4287 |
| Popis: | Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges. |
| Databáze: | OpenAIRE |
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