Professional Issues

Journal of Genetic Counseling

, Volume 20, Issue 1, pp 5-19

First online:

Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review

  • Scott M. WeissmanAffiliated withCenter for Medical Genetics, NorthShore University HealthSystem
  • , Cecelia BellcrossAffiliated withHematology/Oncology Clinic, Dean Health System
  • , Christina Chimera BittnerAffiliated withUniversity of Pittsburgh Medical Center Cancer Genetics Program, Magee-Womens Hospital
  • , Mary E. FreivogelAffiliated withRisk Assessment and Prevention Program, Invision Sally JobeInformed Medical Decisions, Inc.
  • , Joy Larsen HaidleAffiliated withHumphrey Cancer Center, North Memorial Healthcare
  • , Pardeep KaurahAffiliated withHereditary Cancer Program, British Columbia Cancer Agency
  • , Anna LeiningerAffiliated withWilliam C. Berstein Familial Cancer Registry
  • , Selvi PalaniappanAffiliated withHereditary Cancer Program, Northside Hospital
  • , Kelle SteenblockAffiliated withInformed Medical Decisions, Inc.
    • , Thuy M. VuAffiliated withCenter for Medical Genetics, NorthShore University HealthSystemDepartment of Surgical Oncology, The University of Texas M.D. Anderson Cancer Cancer
    • , Molly S. DanielsAffiliated withCenter for Medical Genetics, NorthShore University HealthSystemDepartment of Gynecologic Oncology, The University of Texas M.D. Anderson Cancer Cancer Email author 

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Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.


Genetic testing Hereditary colorectal cancer Hereditary nonpolyposis colorectal cancer HNPCC Immunohistochemistry Lynch syndrome Microsatellite instability Risk assessment Tumor studies