Article
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Human mutation - 1 Jan 2013
Thompson Bryony A, Goldgar David E, Paterson Carol, Clendenning Mark, Walters Rhiannon, Arnold Sven, Parsons Michael T, Michael D Walsh, Gallinger Steven, Haile Robert W, Hopper John L, Jenkins Mark A, Lemarchand Loic, Lindor Noralane M, Newcomb Polly A, Thibodeau Stephen N, Young Joanne P, Buchanan Daniel D, Tavtigian Sean V, Spurdle Amanda B
Abstract excerpt
Mismatch repair (MMR) gene sequence variants of uncertain clinical significance are often identified in suspected Lynch syndrome families, and this constitutes a challenge for both researchers and clinicians. Multifactorial likelihood model approaches provide a quantitative measure of MMR variant pathogenicity, but first require input of likelihood ratios (LRs) for different MMR variation-associated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.