Genetics of Colorectal Cancer (PDQ) - NCI - feb 2016

National Cancer Institute

Changes to This Summary (02/12/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Introduction

Added text about the approaches that are available to evaluate a patient with newly diagnosed colorectal cancer (CRC) who may or may not be suspected of having a cancer genetics syndrome.

Updated National Comprehensive Cancer Network (NCCN) as reference 73.

Major Genetic Syndromes

Updated NCCN as reference 92.

Revised Table 7 to state that NCCN recommends that if an at-risk individual is found to not carry the APC gene mutation responsible for familial polyposis in the family, screening as an average-risk individual is recommended.

Revised Table 9 to state that NCCN recommends considering colectomy and ileorectal anastomosis in individuals aged 21 years or older with a personal history of MYH-associated polyposis and a small adenoma burden.

Added Borelli et al. as reference 260.

Added Goldberg et al. as reference 348.

Revised text to state that NCCN supports immunohistochemistry or sometimes microsatellite instability testing of all CRCs diagnosed in patients younger than 70 years if tumor tissue is available and in patients 70 years or older if they meet Bethesda guidelines.

Revised Table 11 to state that NCCN recommends initiating CRC screening in MSH6 and PMS2 carriers between ages 25 years and 30 years or 2 to 5 years before the youngest case of CRC in the family if before age 30 years.

Revised Table 12 to state that NCCN does not recommend surveillance of the prostate in Lynch syndrome.

Revised text to state that an updated set of operational criteria for the diagnosis of Cowden syndrome based on a systematic literature review has been suggested and is currently utilized in the NCCN guidelines.

Also added text to state that the American College of Medical Genetics and Genomics (ACMG) suggests that referral for genetics consultation be considered for individuals with a personal history of or a first-degree relative with 1) adult-onset Lhermitte-Duclos disease or 2) any three of the major or minor criteria that have been established for the diagnosis of Cowden syndrome; detailed recommendations, including diagnostic criteria for Cowden syndrome, can be found in the NCCN and ACMG guidelines.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

< Previous section
Psychosocial Issues in Hereditary Colon Cancer Syndromes

Next section >
About This PDQ Summary

• Updated: February 12, 2016