Oncology

The R659Q and K618A MLH1 variants (of uncertain significance and benign independently) are pathogenic when inherited in cis

  • MLH1 p.R659Q and p.K618A are independently classified as VUS and VLP
  • These variants, in cis, segregate with disease in a family with a clinical diagnosis of Lynch syndrome
  • Other phenotypic data and Bayesian analysis suggest this haplotype may be pathogenic
  • If this combination of variants is proven to be pathogenic, it represents a new possibility that otherwise benign variants may, in combination, be pathogenic

  • Speakers: Heather Hampel; Rachel Pearlman; Sarah Campian; Polly Newcomb; Mercy Laurino; Bryony Thompson
  • Collaborators: Fox Chase Cancer Center; Ohio State University Comprehensive Cancer Center; Seattle Cancer Care Alliance; University of Melbourne
  • Conference: CGA-IGC 2019
  • Date: Sunday, Nov 03, 2019 8:00am - 12:00pm

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