Lynch syndrome
Summary
Excerpted from the GeneReview: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.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Gregory Idos
- Laura Valle
- view full author information
Available tests
151 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1, MMRCS1, hMLH1, MLH1
Summary: mutL homolog 1Also known as: COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2, MSH2
Summary: mutS homolog 2Also known as: GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160, MSH6
Summary: mutS homolog 6Also known as: HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2, PMS2
Summary: PMS1 homolog 2, mismatch repair system component
- Goldberg et al, 2019Lynch Syndrome in Urologic Malignancies - What Does the Urologist Need to Know?
- AMA/NCHPEG, 2012
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCI PDQ, Genetics of Colorectal CancerGenetics of Colorectal Cancer (PDQ®): Health Professional Version
- EHTG/ESCP, 2021European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
- ACMG, 2016Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
- ASCO, 2015American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
- Mork et al., 2015Lynch Syndrome: A Primer for Urologists and Panel Recommendations.
- ACG, 2015ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
- ASCO/ESMO, 2015Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
- ACMG, 2015ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
- MSTF, 2014Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.
- ASCO, 2014American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
- SGO, 2014Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
- ACMG, 2014ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
- ACMG, 2013ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
- Dutch SCG, 2013Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.
- Mallorca group, 2013Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. (See EHTG/ESCP, 2021 Update)
- CAPS, 2013International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer (See 2020 Update)
- EGAPP, 2009Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
- NSGC, 2004Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. (Retired following 2012 Update)
- ASCRS, 2001Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.
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