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
    • Center for Medical GeneticsNorthShore University HealthSystem
  • Cecelia Bellcross
    • Hematology/Oncology Clinic, Dean Health System
  • Christina Chimera Bittner
    • University of Pittsburgh Medical Center Cancer Genetics Program, Magee-Womens Hospital
  • Mary E. Freivogel
    • Risk Assessment and Prevention Program, Invision Sally Jobe
    • Informed Medical Decisions, Inc.
  • Joy Larsen Haidle
    • Humphrey Cancer Center, North Memorial Healthcare
  • Pardeep Kaurah
    • Hereditary Cancer Program, British Columbia Cancer Agency
  • Anna Leininger
    • William C. Berstein Familial Cancer Registry
  • Selvi Palaniappan
    • Hereditary Cancer ProgramNorthside Hospital
  • Kelle Steenblock
    • Informed Medical Decisions, Inc.
  • Thuy M. Vu
    • Department of Surgical OncologyThe University of Texas M.D. Anderson Cancer Cancer
    • Department of Gynecologic OncologyThe University of Texas M.D. Anderson Cancer Cancer
Professional Issues

DOI: 10.1007/s10897-010-9325-x

Cite this article as:
Weissman, S.M., Bellcross, C., Bittner, C.C. et al. J Genet Counsel (2011) 20: 5. doi:10.1007/s10897-010-9325-x


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 testingHereditary colorectal cancerHereditary nonpolyposis colorectal cancerHNPCCImmunohistochemistryLynch syndromeMicrosatellite instabilityRisk assessmentTumor studies

Copyright information

© National Society of Genetic Counselors, Inc. 2010