Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Dec;29(4):345-352.
doi: 10.1055/s-0036-1584087.

Genetic Testing for Polyposis Syndromes

Khateriaa Pyrtel  1
Affiliations
Review

Genetic Testing for Polyposis Syndromes

Khateriaa Pyrtel. Clin Colon Rectal Surg. 2016 Dec.

Abstract

Colorectal cancer is the third most common cancer diagnosed in the United States with up to 3% of cases being attributable to a hereditary polyposis syndrome. Established diagnostic and/or testing criteria exist for many of the recognized polyposis syndromes and are an important tool in guiding physicians in the identification of individuals who may benefit from referral to a cancer genetics service for hereditary cancer risk assessment. A formal hereditary cancer risk assessment supports fulfillment of obligations for standard of care, as well as minimizes the negative outcomes that may occur in the absence of informed consent for genetic testing. The implications of a diagnosis may extend beyond the individual patient to include at-risk relatives, and as such, much emphasis should be placed on identifying the most informative individual in a family in which to initiate testing. Advances in our understanding of genes associated with hereditary polyposis and the increasing use of testing that relies on next-generation sequencing technologies may lead to the increased likelihood of a genetic diagnosis; however, in those individuals without a genetic diagnosis whose histories remain concerning for hereditary polyposis, knowledge of family history may inform strategies for early detection and prevention.

Keywords: genetic testing; germline; hereditary cancer; next-generation sequencing; polyposis.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest The author has no significant relationship with, or financial interest in, any commercial companies.

Figures

Fig. 1
Fig. 1
Algorithm for genetic assessment for a patient with a personal or family history of a hereditary polyposis syndrome.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. 1. SEER Cancer Statistics Factsheets: Colon and Rectum Cancer National Cancer Institute; Bethesda, MD. Available at: http://seer.cancer.gov/statfacts/html/colorect.html. Accessed 10/2/2015
    1. Syngal S Brand R E Church J M Giardiello F M Hampel H L Burt R W; American College of Gastroenterology. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes Am J Gastroenterol 20151102223–262., quiz 263 - PMC - PubMed
    1. Hampel H Bennett R L Buchanan A Pearlman R Wiesner G L; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment Genet Med 201517170–87. - PubMed
    1. Riley B D, Culver J O, Skrzynia C. et al.Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns. 2012;21(2):151–161. - PubMed
    1. Rubinstein W S, Weissman S M. Managing hereditary gastrointestinal cancer syndromes: the partnership between genetic counselors and gastroenterologists. Nat Clin Pract Gastroenterol Hepatol. 2008;5(10):569–582. - PubMed