Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing

Ashton A. Connor, Hagit Katzov-Eckert, Thomas Whelan, Melyssa Aronson, Lynette Lau, Christian Marshall, George S. Charames, Aaron Pollett, Steven Gallinger, Jordan Lerner-Ellis

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The identification of germline variants that predispose to cancer is important to further our understanding of tumorigenesis, guide patient management, prevent disease in unaffected relatives, and inform best practice for health care. We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members. This case fosters discussion of our current understanding of DNA mismatch repair deficiency, the management of Lynch Syndrome, and the emerging role of next generation sequencing in laboratory medicine to identify rare pathogenic germline variants in a comprehensive, unbiased fashion.

Original languageEnglish (US)
Pages (from-to)69-75
Number of pages7
JournalFamilial Cancer
Volume14
Issue number1
DOIs
StatePublished - Mar 18 2015

Keywords

  • Clinical genomics
  • DNA mismatch repair
  • Gastrointestinal cancer
  • MSH6
  • Next generation sequencing

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

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