Lynch syndrome 1
- Synonyms
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; Colorectal cancer, hereditary, nonpolyposis, type 1; Hereditary non-polyposis colorectal cancer, type 1; Lynch syndrome I; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related 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
185 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (185 available)
Molecular Genetics Tests
- Mutation scanning of select exons (6)
- RNA analysis (5)
- Sequence analysis of the entire coding region (148)
- Mutation scanning of the entire coding region (3)
- Methylation analysis (1)
- Sequence analysis of select exons (6)
- Deletion/duplication analysis (128)
- Microsatellite instability testing (MSI) (4)
- Targeted variant analysis (26)
Clinical features
Help- Abnormality of the digestive system
- Colon cancer
Colon cancer
- MedGen UID: 2839
- Concept ID: C0007102
- Finding: Neoplastic Process
Abnormality of the digestive system
- Colon cancer
- 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
- NCCN, 2024NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024
- NICE, 2021UK NICE Guideline NG151, Colorectal cancer, 2021
- NICE, 2020UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
- ACMG ACT, 2019American 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
- SGO, 2014Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
- ACMG ACT, 2012American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012
- EuroGenetest, 2010Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)
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