Article
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Gastroenterology - 1 Aug 2008
Senter Leigha, Clendenning Mark, Sotamaa Kaisa, Hampel Heather, Green Jane, Potter John D, Lindblom Annika, Lagerstedt Kristina, Thibodeau Stephen N, Lindor Noralane M, Young Joanne, Winship Ingrid, Dowty James G, White Darren M, Hopper John L, Baglietto Laura, Jenkins Mark A, de la Chapelle Albert
Abstract excerpt
BACKGROUND & AIMS: 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...
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