Article
Recurrent and founder mutations in the PMS2 gene.
Clinical genetics - 1 Mar 2013
Tomsic J, Senter L, Liyanarachchi S, Clendenning M, Vaughn C P, Jenkins M A, Hopper J L, Young J, Samowitz W, de la Chapelle A
Abstract excerpt
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individuals not known to be...
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