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
. 2019 Sep;15(9):462-470.

Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes

Jessica Stoll  1   2 , Sonia S Kupfer  1   2
Affiliations

Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes

Jessica Stoll et al. Gastroenterol Hepatol (N Y). 2019 Sep.

Abstract

A number of inherited syndromes affect the gastrointestinal tract, including Lynch syndrome and other hereditary colorectal cancers, hereditary polyposis, hereditary gastric cancer, hereditary pancreatic cancer, and hereditary pancreatitis. Recognition and diagnosis of these syndromes are paramount because affected individuals and family members can be offered life-saving screening, risk-reducing surgeries, and other therapies. Genetic counseling and testing are critical components of risk assessment and diagnosis of inherited syndromes. With the advent of next-generation sequencing, multigene panels have significantly changed the practice of genetic counseling and testing. Gastroenterology providers interface with patients who are at risk for inherited gastrointestinal syndromes; thus, providers should learn to recognize these syndromes and know when to refer their patients. Additionally, gastroenterology providers should have an understanding of genetic counseling and be able to interpret multigene panel test results. This article provides an overview of and practical tips for the assessment and diagnosis of hereditary gastrointestinal cancer syndromes and pancreatitis.

Keywords: Genetic counseling; direct-to-consumer testing; genetic testing; hereditary gastrointestinal cancers; hereditary pancreatitis.

PubMed Disclaimer

Conflict of interest statement

Ms Stoll and Dr Kupfer have conducted research with Myriad Genetic Laboratories. Ms Stoll is also on the advisory board for Invitae.

Figures

Figure 1.
Figure 1.
Algorithm for universal tumor screening for Lynch syndrome. IHC, immunohistochemistry; MMR, mismatch repair; MSI, microsatellite instability; MSS, microsatellite stable.
Figure 2.
Figure 2.
Eligibility criteria for pancreatic cancer (PC) screening. EUS, endoscopic ultrasound; MRCP, magnetic resonance cholangiopancreatography.
See this image and copyright information in PMC

References

    1. Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;22(2):155–163. - PubMed
    1. Ready K, Arun B. Clinical assessment of breast cancer risk based on family history. J Natl Compr Canc Netw. 2010;8(10):1148–1155. - PubMed
    1. Kastrinos F, Allen JI, Stockwell DH et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol. 2009;104(6):1508–1518. - PMC - PubMed
    1. Stoffel EM, Kastrinos F. Familial colorectal cancer, beyond Lynch syndrome. Clin Gastroenterol Hepatol. 2014;12(7):1059–1068. - PMC - PubMed
    1. Niendorf KB, Thomas BC. Genetic counseling for cancer: technology promises better screening for hereditary cancer patients. Curr Genet Med Rep. 2013;1(2):135–141.

LinkOut - more resources