Article
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
Cancer research - 15 Jul 2004
Nakagawa Hidewaki, Lockman Janet C, Frankel Wendy L, Hampel Heather, Steenblock Kelle, Burgart Lawrence J, Thibodeau Stephen N, de la Chapelle Albert
Abstract excerpt
The MutLalpha heterodimer formed by mismatch repair (MMR) proteins MLH1 and PMS2 is a major component of the MMR complex, yet mutations in the PMS2 gene are rare in the etiology of hereditary nonpolyposis colorectal cancer. Evidence from five published cases suggested that contrary to the Knudson principle, PMS2 mutations cause hereditary nonpolyposis colorectal cancer or Turcot syndrome only when they are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.