Hereditary Colorectal Cancer Syndromes: Familial Adenomatous Polyposis and Lynch Syndrome

2008 ◽  
Vol 88 (4) ◽  
pp. 819-844 ◽  
Author(s):  
Wigdan Al-Sukhni ◽  
Melyssa Aronson ◽  
Steven Gallinger
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Hereditary Colorectal Cancer ◽  
Adenomatous Polyposis ◽  
Hereditary Colorectal Cancer Syndromes ◽  
Cancer Syndromes

scholarly journals Translational Research in Familial Colorectal Cancer Syndromes

2018 ◽  
Vol 31 (03) ◽  
pp. 161-167
Author(s):  
Molly Ford
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Adenomatous Polyposis ◽  
Familial Colorectal Cancer ◽  
Inherited Cancer ◽  
Cancer Syndromes ◽  
Early Onset Colorectal Cancer ◽  
Made In

AbstractGrowing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer.

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

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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