Zebrafish with Mutations in Mismatch Repair Genes Develop Neurofibromas and Other Tumors
نویسندگان
چکیده
منابع مشابه
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
Defective mismatch repair (MMR) in humans causes hereditary nonpolyposis colorectal cancer. This genetic predisposition to colon cancer is linked to heterozygous familial mutations, and loss-of-heterozygosity is necessary for tumor development. In contrast, the rare cases with biallelic MMR mutations are juvenile patients with brain tumors, skin neurofibromas, and café-au-lait spots, resembling...
متن کاملAPC mutations in colorectal tumors with mismatch repair deficiency.
We have investigated the influence of genetic instability [replication error (RER) phenotype] on APC (adenomatous polyposis coli), a gene thought to initiate colorectal tumorigenesis. The prevalence of APC mutations was similar in RER and non-RER tumors, indicating that both tumor types share this step in neoplastic transformation. However, in a total of 101 sequenced mutations, we noted a subs...
متن کاملAbsence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability.
DNA mismatch repair genes have been reported to play a role in the pathogenesis of hereditary nonpolyposis colorectal cancer (HNPCC). Mutations of DNA mismatch repair genes have accounted for 90% of HNPCC-related colon and endometrial tumors. These mutations have been associated with microsatellite instability (MIN). Because endometrial cancer (EC) is the most common extracolonic malignancy ass...
متن کاملEstimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors
Background Microsatellite instability (MSI) is a hallmark of DNA mismatch repair (MMR) deficiency and is an established screening tool for identifying Lynch syndrome in colorectal cancer populations [1]. However, MSI testing is neither perfectly sensitive nor specific to detect Lynch Syndrome, and germline MMR mutations have been reported in patients with microsatellite stable (MSS) tumors [2]....
متن کاملPhenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.
The MMR (DNA mismatch repair) system helps to maintain the integrity of the genome. This involves eliminating base-base mismatches and insertion/deletion loops, which can lead to microsatellite instability, as seen in tumour cells. Hereditary non-polyposis colon cancer is the result of dominant mutations in MMR genes, such as MLH1, MSH2 and MSH6. More recently there have been case reports of bi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cancer Research
سال: 2008
ISSN: 0008-5472,1538-7445
DOI: 10.1158/0008-5472.can-08-0019