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Getting it right with Lynch Syndrome genetic and phenotypic diagnosis

Frayling, Ian Martin 2015. Getting it right with Lynch Syndrome genetic and phenotypic diagnosis. Human Mutation 36 (6) , iii-iii. 10.1002/humu.22653

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Lynch syndrome (LS) predisposes to cancer and is caused by pathogenic constitutional mutations affecting one of four DNA mismatch repair (MMR) genes: MSH2, MLH1, MSH6, or PMS2. The risk of colorectal, endometrial, and other cancers in LS is 50% or more by the age of 70 years. Frequent colonoscopy reduces mortality, so identifying the causative mutation and offering predictive genetic testing is life-saving. However, to be able to offer predictive testing hinges critically on the correct interpretation of mutations. Get it wrong and those patients who warrant colonoscopy would not get it, or those who do not warrant having it will be needlessly exposed to side effects.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Publisher: Wiley-Blackwell
Date of Acceptance: 18 May 2015
Last Modified: 15 Mar 2019 15:43

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