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GTR Home > Conditions/Phenotypes > Lynch syndrome 5


Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160, MSH6
    Summary: mutS homolog 6

Clinical features


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Practice guidelines

  • NICE, 2021
    UK NICE Guideline NG151, Colorectal cancer, 2021
  • NICE, 2020
    UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019

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