منابع مشابه
PMS2 mutations in childhood cancer.
Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low heterozygote penetrance. As a result, a dominant...
متن کاملRecurrent and founder mutations in the PMS2 gene.
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individual...
متن کاملGermline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
OBJECTIVES Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a...
متن کاملLate presentation of cancer in compound heterozygote PMS2 mutation carrier
Background Turcot syndrome is clinically characterized by the occurrence of primary brain tumors, colorectal cancer and/or accompanying adenomas. It has been described as both an autosomal dominant and recessive condition and mutations in APC, MLH1, MSH2, MSH6 and PMS2 have been reported. Constitutional Mismatch repair (CMMR) deficiency is a variant of Lynch syndrome (LS) associated with bialle...
متن کاملThe Prevalence of P53 Mutations in Laryngeal Cancer in Kerman
Background &Aims: Laryngeal cancer is the second common cancer of respiratory tract, following the lung cancer. Carcinogenesis is a complex multistage process; molecular genetics has provided the evidence that activation of proto-oncogene and loss or inactivation of tumor suppressor genes (TSG) are involved in a large number of malignancies. One of the earliest significant tumor suppressor gene...
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ژورنال
عنوان ژورنال: JNCI: Journal of the National Cancer Institute
سال: 2006
ISSN: 1460-2105,0027-8874
DOI: 10.1093/jnci/djj073