Results 161 to 170 of about 16,168 (189)

The PMS2 gene is associated with HCVC

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022
Хронический 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, 2008
Biallelic 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, Orme, LM, Lynch, E, Croxford, MA, Dow, C, Dewan, PA, Lipton, L   +6 more
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Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer

International Journal of Oncology, 2003
DNA mismatch repair (MMR) is involved in the post-replication correction of errors due to misincorporated nucleotides or DNA slippage during DNA synthesis. We previously reported the reduction or loss of MMR protein expression in human prostate cancer cell lines and some primary tumors.
Yian, Chen, Jiansong, Wang, Mostafa M, Fraig, Kelly, Henderson, Nabil K, Bissada, Dennis K, Watson, Clifford W, Schweinfest   +6 more
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Nuclear import of human MLH1, PMS2, and MutLα: Redundancy is the key

Molecular Carcinogenesis, 2009
AbstractDNA mismatch repair maintains genomic stability by correcting errors that have escaped polymerase proofreading. Defects on mismatch repair genes lead to an increased mutation rate, microsatellite instability and predisposition to human non‐polyposis colorectal cancer (HNPCC).
Vivian, Leong, Jessica, Lorenowicz, Natalie, Kozij, Alba, Guarné   +3 more
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PMS2 mutations in HNPCC

Clinical Genetics, 2004
B E, Hayward, M, De Vos, E, Sheridan, D T, Bonthron   +3 more
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Solitary Loss of PMS2 in a patient with Colon carcinoma

American Journal of Clinical Pathology
Abstract 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, 2009
In 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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PMS2

1998
Tak W. Mak, Josef Penninger, John Roder, Janet Rossant, Mary Saunders   +4 more
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Cancer Risks for PMS2-Associated Lynch Syndrome

Journal of Clinical Oncology, 2018
PurposeLynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum.
van Hest, LP, Ten Broeke, Sanne W
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Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome

Genetics in Medicine, 2022
Ying L Liu, Anna Maio, Zalak Patel
exaly