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The post meiotic segregation increased 2 (PMS2 antibody) protein forms a heterodimer with MLH1 that interacts with MSH2 bound to mismatched bases in DNA. PMS2 functions as one of the four major DNA mismatch repair genes along with MSH2, MLH1 and PMS1. Mutations in these genes are associated with hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary diseases in humans. Studies have determined that the microsatellite instability (MSI) phenotype in endometrial carcinoma is linked to concurrent loss of MLH1/PMS2. PMS2 protein expression may be a useful tool to screen for Lynch syndrome (LS) after a colorectal cancer diagnosis.
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1. Cohn DE., Pavelka JC., Frankel WL., Morrison CD., Hampel H., Copeland., LJ., Fowler JM. Correlation between patient weight and defects in DNA mismatch repair: is this the link between an increased risk of previous cancer in thinner women with endometrial cancer? Int J Gynecol Cancer. 2008 Jan-Feb;18(1):136-40.
2. Modica I., Soslow., Black D., Tornos C., Kauff N., Shia J. Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol. 2007 May;31(5):744-51.
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5. Halvarsson B., Lindblom A., Rambech E., Lagerstedt K., Nilbert M. The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. Fam Cancer. 2006;5(4):353-8. Epub 2006 Jul 12.
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