Phenotypic and genotypic heterogeneity of Lynch syndrome

a complex diagnostic challenge

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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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Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
Germ-Line Mutation
Genetic Counseling
Endometrial Neoplasms
Immunotherapy
Colorectal Neoplasms
Genotype
Phenotype
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

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

Cite this

Phenotypic and genotypic heterogeneity of Lynch syndrome : a complex diagnostic challenge. / Lynch, Henry T.; Lanspa, Stephen J.; Shaw, Trudy; Casey, Murray J.; Rendell, Marc; Stacey, Mark; Townley, Theresa; Snyder, Carrie; Hitchins, Megan; Bailey-Wilson, Joan.

In: Familial Cancer, 25.10.2017, p. 1-12.

Research output: Contribution to journalArticle

Lynch, Henry T. ; Lanspa, Stephen J. ; Shaw, Trudy ; Casey, Murray J. ; Rendell, Marc ; Stacey, Mark ; Townley, Theresa ; Snyder, Carrie ; Hitchins, Megan ; Bailey-Wilson, Joan. / Phenotypic and genotypic heterogeneity of Lynch syndrome : a complex diagnostic challenge. In: Familial Cancer. 2017 ; pp. 1-12.
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