Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

2015 ◽  
Vol 11 (3) ◽  
pp. e437-e441 ◽  
Author(s):  
Elena M. Stoffel ◽  
Pamela B. Mangu ◽  
Paul J. Limburg
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Practice Guidelines ◽  
Clinical Practice Guideline ◽  
Medical Oncology ◽  
Familial Risk ◽  
Hereditary Colorectal Cancer ◽  
Hereditary Colorectal Cancer Syndromes ◽  
American Society ◽  
Cancer Syndromes

scholarly journals Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

2015 ◽  
Vol 33 (2) ◽  
pp. 209-217 ◽  
Author(s):  
Elena M. Stoffel ◽  
Pamela B. Mangu ◽  
Stephen B. Gruber ◽  
Stanley R. Hamilton ◽  
Matthew F. Kalady ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Practice Guidelines ◽  
Clinical Practice Guideline ◽  
European Society ◽  
Medical Oncology ◽  
Familial Risk ◽  
Hereditary Colorectal Cancer ◽  
American Society ◽  
Cancer Syndromes

Purpose To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. Methods The Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. Results The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Recommendations Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria.

1997 update of recommendations for the use of tumor markers in breast and colorectal cancer. Adopted on November 7, 1997 by the American Society of Clinical Oncology.

1998 ◽  
Vol 16 (2) ◽  
pp. 793-795 ◽  
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Clinical Practice ◽  
Clinical Oncology ◽  
Tumor Markers ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Disease Free Survival ◽  
Research Committee ◽  
American Society

OBJECTIVE The primary objective was to update the 1996 clinical practice guidelines for the use of tumor marker tests in the prevention, screening, treatment, and surveillance of breast and colorectal cancers. These guidelines are intended for use in the care of patients outside of clinical trials. OPTIONS Six tumor markers for colorectal cancer and eight for breast cancer were considered. They could be recommended or not for routine use or for special circumstances. In addition to carcinoembryonic antigen (CEA) and cancer antigen (CA) 15-3, CA 27.29 also was considered in regard to circulatory tumor markers for breast cancer. OUTCOMES In general, the significant health outcomes identified for use in making clinical practice guidelines (overall survival, disease-free survival, quality of life, lesser toxicity, and cost effectiveness) were used. EVIDENCE A computerized literature search from 1994 to July 1997 was performed. VALUES The same values for Use, Utility, and Levels of Evidence were used by the Committee. BENEFITS, HARMS, AND COSTS The same benefit, harms, and costs were used. RECOMMENDATION No changes in any guidelines were recommended (see text). VALIDATION External review by the American Society of Clinical Oncology (ASCO) Health Services Research Committee and by ASCO Board of Directors. SPONSOR American Society of Clinical Oncology.

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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