scholarly journals Principles of Diagnosis and Personalized Treatment of Hereditary Colorectal Cancer

2019 ◽  
Vol 74 (2) ◽  
pp. 118-124
Author(s):  
Alexey S. Tsukanov ◽  
Yury A. Shelygin ◽  
Sergey I. Achkasov ◽  
Sergey A. Frolov ◽  
Vladimir N. Kashnikov ◽  
...  

The most frequent forms of hereditary colorectal cancer syndromes are Lynch syndrome and familial adenomatous polyposis (FAP). All the patients with suspicion to these syndromes need precise clinical and genetic diagnostics. Affected patients need personalized program of treatment because standard algorithm cannot be considered sufficiently effective. Identification of a pathogenic mutation in a patient indicates the need for DNA diagnostics in his close relatives and only in this case all the carriers of pathogenic germline mutations can be included in the high-risk group. Algorithms of clinical monitoring and operative treatment for mutation carriers were developed in different countries. However, different populations have their own genetic and clinical features. The aim of this work was to highlight the principles of diagnosis and personalized treatment of patients with hereditary colorectal cancer, taking into account international and Russian recommendations.

2007 ◽  
Vol 25 (23) ◽  
pp. 3534-3542 ◽  
Author(s):  
Henry T. Lynch ◽  
C. Richard Boland ◽  
Miguel A. Rodriguez-Bigas ◽  
Christopher Amos ◽  
Jane F. Lynch ◽  
...  

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.


2019 ◽  
Vol 17 (9) ◽  
pp. 1032-1041 ◽  
Author(s):  
Samir Gupta ◽  
Dawn Provenzale ◽  
Xavier Llor ◽  
Amy L. Halverson ◽  
William Grady ◽  
...  

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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