Lynch syndrome
Summary
Excerpted from the GeneReview:- 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
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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