منابع مشابه
MSH6 syndrome
The MSH6 gene in collaboration with MSH2, MLH1, MSH3, PMS1 and PMS2 genes is involved in one of the systems repairing the errors that arise during DNA replication, called the “methyl directed mismatch repair” system [1-3]. hMLH1 and hMSH2 mutations give rise most frequently to the classical Lynch syndrome (HNPCC) [4-6]. hMSH6 mutations often occur in clinically less typical HNPCC families, that...
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 کاملA homozygous mutation in MSH6 causes Turcot syndrome.
Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder. Homozygous and compound heterozygous mutations in APC, MLH1, MSH2...
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 کاملAn 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...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2008
ISSN: 1897-4287
DOI: 10.1186/1897-4287-6-2-103