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Long-range PCR facilitates the identification of PMS2-specific mutations†‡
Human Mutation, 2006 Mutations within the DNA mismatch repair gene, "postmeiotic segregation increased 2" (PMS2), have been associated with a predisposition to hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome).
Heather Hampel +2 more
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Polymorphisms in a pseudogene highly homologous to PMS2
Human Mutation, 2000PMS2 is one of a complex of genes encoding DNA repair proteins that includes MSH2, MLH1, MSH6 and MSH3. Mutation of any of these DNA mismatch repair genes leads to impairment of DNA repair and can lead to tumorigenesis. Germline mutation of PMS2 has been reported as a rare cause of hereditary nonpolyposis colorectal cancer (HNPCC) and Turcot's syndrome.
Päivi Peltomäki, Thomas W Prior
exaly +3 more sources
Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2†
Human Mutation, 2011Lynch syndrome is characterized by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. In PMS2, detection of mutations is confounded by numerous pseudogenes. Detection of 3' deletions is particularly complicated by the pseudogene PMS2CL, which has strong similarity to PMS2 exons 9 and 11-15, due to extensive gene conversion.
Cecily P Vaughn, Wade S Samowitz
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An intact Pms2 ATPase domain is not essential for male fertility [PDF]
DNA Repair, 2016 The DNA mismatch repair (MMR) machinery in mammals plays critical roles in both mutation avoidance and spermatogenesis. Meiotic analysis of knockout mice of two different MMR genes, Mlh1 and Mlh3, revealed both male and female infertility associated with a defect in meiotic crossing over.
Jared M. Fischer +2 more
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The PMS2 gene is associated with HCVC
Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022Хронический вирусный гепатит С (ХВГС) является многофакторным заболеванием со сложной генетической компонентой. В настоящем исследовании была изучена вовлеченность гена PMS2 в развитие ХВГС и прогрессирование фиброза до цирроза печени. Проанализированы частоты аллелей и генотипов rs1805321 в гене PMS2 у пациентов с ХВГС (n=150) и популяционной выборке ...
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Biallelic PMS2 Mutations and a Distinctive Childhood Cancer Syndrome
Journal of Pediatric Hematology/Oncology, 2008Biallelic mutations in PMS2, a gene usually associated in heterozygous form with hereditary nonpolyposis colorectal cancer (HNPCC), results in a recently described childhood cancer syndrome. The tumor spectrum encompasses atypical brain cancers, hematologic malignancies, and colonic polyposis and cancer.
Tan, TY +6 more
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Solitary Loss of PMS2 in a patient with Colon carcinoma
American Journal of Clinical PathologyAbstract Introduction/Objective In the United States, there are about 150,000 new cases of Colorectal cancer (CRC) and about 50,000 CRC related deaths each year. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) accounts for 2% - 4% of CRC.
C Umah, N Singh
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Role of MSH6 and PMS2 in the DNA Mismatch Repair Process and Carcinogenesis
Surgical Oncology Clinics of North America, 2009In comparison with the mismatch repair genes MLH1 and MSH2, the genes MSH6 and PMS2 are relatively understudied with respect to cancer risk. However, some recent large studies of data combined from several sources, using analytic methods that appropriately condition on the varying methods of ascertainment, are producing reasonably precise estimates ...
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