Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations

ConclusionIn conclusion, we found that our classifications were mostly in accordance with the InSiGHT scheme. In addition to already known MMR mutations, we have also presented 55 novel pathogenic or putative pathogenic mutations.

Source: Molecular Genetics & Genomic Medicine - January 1, 2016 Category: Genetics & Stem Cells Authors: Wenche Sjursen, Mary McPhillips, Rodney J. Scott, Bente A. Talseth‐Palmer Tags: Original Article Source Type: research