Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge

Henry T. Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson

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Abstract

Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.

Original languageEnglish (US)
Pages (from-to)1-12
Number of pages12
JournalFamilial Cancer
DOIs
StateAccepted/In press - Oct 25 2017

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All Science Journal Classification (ASJC) codes

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

Cite this

Lynch, H. T., Lanspa, S., Shaw, T., Casey, M. J., Rendell, M., Stacey, M., Townley, T., Snyder, C., Hitchins, M., & Bailey-Wilson, J. (Accepted/In press). Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge. Familial Cancer, 1-12. https://doi.org/10.1007/s10689-017-0053-3