The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Publication Type:

Journal Article


Gastroenterology, Volume 135, Issue 2, p.419-28 (2008)


2008, Adenosine Triphosphatases, Adult, Aged, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mutational Analysis, DNA Repair Enzymes, DNA-Binding Proteins, Endometrial Neoplasms, Female, Gene Expression Regulation, Neoplastic, Genotype, Germ-Line Mutation, Heterozygote, Humans, Immunohistochemistry, Ligase Chain Reaction, Male, Middle Aged, Odds Ratio, Penetrance, PHENOTYPE, Polymerase Chain Reaction, Proto-Oncogene Proteins B-raf, Public Health Sciences Division, Risk Assessment


Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers.