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GTR Home > Tests > Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome

Indication

This is a clinical test intended for Help: Mutation Confirmation, Pre-symptomatic, Recurrence, Risk Assessment, Screening, Therapeutic management

Clinical summary

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Imported from GeneReviews

Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.

Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Disease mechanism

loss of function

Target population

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Colon and Endometrial cancer patients

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Guidance for management

Suggested reading

Practice guidelines

  • NCCN, 2023
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2023
  • 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
  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

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