An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation
نویسندگان
چکیده
منابع مشابه
An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation
Background Inherited cancer syndromes associated with acoustic neuroma (i.e. neurofibromatosis 2-NF2), pheochromocytoma (i.e. Von Hippel Lindau, NFl, multiple endocrine neoplasia syndromes, and hereditary paraganglioma syndrome), and colon cancer are well known. Lynch syndrome is the most common hereditary colon cancer syndrome and is caused by DNA mismatch repair dysfunction secondary to inher...
متن کاملRisks of Lynch syndrome cancers for MSH6 mutation carriers.
BACKGROUND Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain. METHODS We identified 113 families of MSH6 mutation carriers from five countries that we ascertained through family cancer clinics and populatio...
متن کاملMutation spectrum in South American Lynch syndrome families
BACKGROUND Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system. METHODS We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterda...
متن کاملCurrent clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
BACKGROUND Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases. ...
متن کاملUnusual presentation of Lynch Syndrome
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 Synd...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2010
ISSN: 1897-4287
DOI: 10.1186/1897-4287-8-s1-p17