Disease-causing gene-flanking genomic rearrangements in HNPCC patients
نویسندگان
چکیده
منابع مشابه
Disease-causing gene-flanking genomic rearrangements in HNPCC patients
Background The molecular diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) or Lynch-Syndrome is the detection of a pathogenic germline mutation in one of the DNA mismatch repair (MMR) genes. However, in ~10-20% of cases suspected of Lynch-syndrome no disease-causing mechanism can be detected. Genomic rearrangements such as gene-flanking deletions, inversions, duplications, or tran...
متن کاملGenomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3. Most reported pathogenic mutations are point mutations, comprising single base substitutions, small insertions and deletions. In addition, genomic rearrangements, such as large deletions and dupl...
متن کاملar-Galactosidase A Gene Rearrangements Causing Fabry Disease
Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in theX-linked gene encoding the lysosomal enzyme, a-galactosidase A (EC 3.2.1.22). Six cY-galactosidase A gene rearrangements that cause Fabry disease were investigated to assess the role of Alu repetitive elements and short direct and/ or inverted repeats in the generation of these germinal mutations. The b...
متن کاملGenomic rearrangements in inherited disease and cancer.
Genomic rearrangements in inherited disease and cancer involve gross alterations of chromosomes or large chromosomal regions and can take the form of deletions, duplications, insertions, inversions or translocations. The characterization of a considerable number of rearrangement breakpoints has now been accomplished at the nucleotide sequence level, thereby providing an invaluable resource for ...
متن کاملScreening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.
I n hereditary non-polyposis colorectal cancer (HNPCC), the most common form of inherited colorectal cancer, detection of the causal alteration of the mismatch repair (MMR) gene involved is essential for proper management of the families. This will allow the identification of relatives with high risk for colorectal or endometrial cancer, who require the appropriate screening and, conversely, wi...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2011
ISSN: 1897-4287
DOI: 10.1186/1897-4287-9-s1-p28