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

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

Fam Cancer

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Suite 1200, Baltimore, MD, 21224, USA.

Published: July 2018

AI Article Synopsis

  • Lynch syndrome is a genetic condition that makes people more likely to get colorectal cancer and some other cancers, especially in the uterus.
  • It happens because of changes (mutations) in special genes that help fix DNA mistakes.
  • The review talks about the history of Lynch syndrome, how it can be different for different people, and how it affects things like doctor visits, family discussions about genetics, and possible new treatments.

Article 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.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-017-0053-3DOI Listing

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