scholarly journals Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model

2009 ◽  
Vol 181 (5) ◽  
pp. 273-280 ◽  
Author(s):  
H. T. Lynch ◽  
J. F. Lynch ◽  
T. A. Attard
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Hereditary Colorectal Cancer ◽  
Diagnosis And Management ◽  
Hereditary Colorectal Cancer Syndromes ◽  
Cancer Syndromes

Who Should Be Sent for Genetic Testing in Hereditary Colorectal Cancer Syndromes?

2007 ◽  
Vol 25 (23) ◽  
pp. 3534-3542 ◽  
Author(s):  
Henry T. Lynch ◽  
C. Richard Boland ◽  
Miguel A. Rodriguez-Bigas ◽  
Christopher Amos ◽  
Jane F. Lynch ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Hereditary Colorectal Cancer ◽  
Genetic Counselors ◽  
Amsterdam Criteria ◽  
Syndrome Diagnosis ◽  
Hereditary Colorectal Cancer Syndromes ◽  
Informative Family ◽  
Peutz Jeghers Syndrome ◽  
Cancer Syndromes

Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019

2019 ◽  
Vol 17 (9) ◽  
pp. 1032-1041 ◽  
Author(s):  
Samir Gupta ◽  
Dawn Provenzale ◽  
Xavier Llor ◽  
Amy L. Halverson ◽  
William Grady ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Risk Assessment ◽  
High Risk ◽  
Hereditary Colorectal Cancer ◽  
Cancer Surveillance ◽  
Nccn Guidelines ◽  
Hereditary Syndromes ◽  
Hereditary Colorectal Cancer Syndromes ◽  
Cancer Syndromes ◽  
Familial High Risk

Identifying individuals with hereditary syndromes allows for improved cancer surveillance, risk reduction, and optimized management. Establishing criteria for assessment allows for the identification of individuals who are carriers of pathogenic genetic variants. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the assessment and management of patients with high-risk colorectal cancer syndromes. These NCCN Guidelines Insights focus on criteria for the evaluation of Lynch syndrome and considerations for use of multigene testing in the assessment of hereditary colorectal cancer syndromes.

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