Article
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
American journal of human genetics - 5 Jul 2018
Shirts Brian H, Konnick Eric Q, Upham Sarah, Walsh Tom, Ranola John Michael O, Jacobson Angela L, King Mary-Claire, Pearlman Rachel, Hampel Heather, Pritchard Colin C
Abstract excerpt
Present guidelines for classification of constitutional variants do not incorporate inferences from mutations seen in tumors, even when these are associated with a specific molecular phenotype. When somatic mutations and constitutional mutations lead to the same molecular phenotype, as for the mismatch repair genes, information from somatic mutations may enable interpretation of previously unclassified variants....
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