Journal of Genetic Counseling

, Volume 20, Issue 1, pp 5–19

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

  • Scott M. Weissman
  • Cecelia Bellcross
  • Christina Chimera Bittner
  • Mary E. Freivogel
  • Joy Larsen Haidle
  • Pardeep Kaurah
  • Anna Leininger
  • Selvi Palaniappan
  • Kelle Steenblock
  • Thuy M. Vu
  • Molly S. Daniels
Professional Issues


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 


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Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  • Scott M. Weissman
    • 1
  • Cecelia Bellcross
    • 2
  • Christina Chimera Bittner
    • 3
  • Mary E. Freivogel
    • 4
    • 5
  • Joy Larsen Haidle
    • 6
  • Pardeep Kaurah
    • 7
  • Anna Leininger
    • 8
  • Selvi Palaniappan
    • 9
  • Kelle Steenblock
    • 5
  • Thuy M. Vu
    • 10
  • Molly S. Daniels
    • 11
  1. 1.Center for Medical GeneticsNorthShore University HealthSystemEvanstonUSA
  2. 2.Hematology/Oncology Clinic, Dean Health SystemMadisonUSA
  3. 3.University of Pittsburgh Medical Center Cancer Genetics Program, Magee-Womens HospitalPittsburghUSA
  4. 4.Risk Assessment and Prevention Program, Invision Sally JobeGreenwood VillageUSA
  5. 5.Informed Medical Decisions, Inc.St. PetersburgUSA
  6. 6.Humphrey Cancer Center, North Memorial HealthcareRobbinsdaleUSA
  7. 7.Hereditary Cancer Program, British Columbia Cancer AgencyVancouverCanada
  8. 8.William C. Berstein Familial Cancer RegistryMinneapolisUSA
  9. 9.Hereditary Cancer ProgramNorthside HospitalAtlantaUSA
  10. 10.Department of Surgical OncologyThe University of Texas M.D. Anderson Cancer CancerHoustonUSA
  11. 11.Department of Gynecologic OncologyThe University of Texas M.D. Anderson Cancer CancerHoustonUSA

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