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GTR Home > Conditions/Phenotypes > Lynch syndrome 4

Lynch syndrome 4

Synonyms
Colorectal cancer, hereditary nonpolyposis, type 4; Hereditary non-polyposis colorectal cancer, type 4

Summary

Lynch syndrome-4 (LYNCH4), or hereditary nonpolyposis colorectal cancer type 4 (HNPCC4), is an autosomal dominant disorder characterized primarily by the development of early-onset colorectal cancer. It is associated with the development of a variety of epithelial tumors that include endometrial cancer, stomach cancer, and ovarian cancer (summary by Thompson et al., 2004). [from OMIM]

Available tests

146 tests are in the database for this condition.

Clinical tests (146 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2, PMS2
    Summary: PMS1 homolog 2, mismatch repair system component

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

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

Molecular resources

Consumer resources

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