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

Familial Cancer
Henry T LynchJoan Bailey-Wilson

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.

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Citations

Jan 8, 2019·Pathology Oncology Research : POR·María Tarancón-DiezNicolaus Friedrichs
Feb 11, 2020·JCO Oncology Practice·Y Nancy YouDavid Shibata
May 11, 2018·International Journal of Clinical Oncology·Naohiro Tomita
Apr 9, 2020·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Lisa A FriedmanAnne M Mills
Oct 26, 2018·The Medical Journal of Australia·Mark A JenkinsD James B St John
Jul 3, 2021·Biology·Marlo K ThompsonAishwarya Prakash
Jul 14, 2021·Anthropology & Medicine·Laura Louise HeinsenHelle Vendel Petersen

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Methods Mentioned

BETA
genotyping
hysterectomy

Software Mentioned

SCAN

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