Skip to main content

Genetics of Inherited Gastrointestinal Tumors

  • Chapter
  • First Online:
Gastroenterology For General Surgeons
  • 647 Accesses

Abstract

This chapter is about the genes and mutations that underlie syndromes associated with an inherited predisposition to develop gastrointestinal (GI) tumors and cancer. Because of this focus on genes and inheritance it does not restrict its comments to the management of a patient with cancer, but focuses on a different unit of careā€”the family.

While reading this chapter it is essential to remember that our knowledge of genetics, cancer and links between genes and cancer will change over time. This changing knowledge means the information in this chapter will become out of date. A number of online resources are listed at the end of the chapter and they should be consulted for up-to-date information.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 129.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Recommended Reading

Family History

  • Lu KH, et al. American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32:833ā€“41.

    ArticleĀ  Google ScholarĀ 

Reviews of GI Tumour Syndromes

  • Lorans M, et al. Update on hereditary colorectal cancer: improving the clinical utility of multigene panel testing. Clin Colorectal Cancer. 2018;17(2):e293ā€“305. https://doi.org/10.1016/j.clcc.2018.01.001.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  • Stoffel EM, Mangu PB, Gruber SB, et al. 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. J Clin Oncol. 2015;33:209ā€“17.

    ArticleĀ  Google ScholarĀ 

  • Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110:223ā€“62.

    ArticleĀ  Google ScholarĀ 

Lynch Syndrome and CMMRD

  • Peltomaki P. Update on lynch syndrome genomics. Familial Cancer. 2016;15:385ā€“93.

    ArticleĀ  CASĀ  Google ScholarĀ 

  • Rubenstein JH, Enns R, Heidelbaugh J, Barkun A. American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. Gastroenterology. 2015;149:777ā€“82.

    ArticleĀ  Google ScholarĀ 

  • Vasen HF, et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium ā€œCare for CMMR-Dā€ (C4CMMR-D). J Med Genet. 2014;51:283ā€“93.

    ArticleĀ  CASĀ  Google ScholarĀ 

Serrated Polyposis

  • East JE, et al. British Society of Gastroenterology position statement on serrated polyps in the colon and rectum. Gut. 2017;66:1181ā€“96.

    ArticleĀ  CASĀ  Google ScholarĀ 

Gastric Cancer

  • Li J, et al. Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant. Am J Hum Genet. 2016;98(5):830ā€“42.

    ArticleĀ  CASĀ  Google ScholarĀ 

  • van der Post RS, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52:361ā€“74.

    ArticleĀ  Google ScholarĀ 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Nicola K. Poplawski .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

Ā© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Poplawski, N.K. (2019). Genetics of Inherited Gastrointestinal Tumors. In: Wichmann, M., McCullough, T., Roberts-Thomson, I., Maddern, G. (eds) Gastroenterology For General Surgeons. Springer, Cham. https://doi.org/10.1007/978-3-319-92768-8_21

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-92768-8_21

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-92767-1

  • Online ISBN: 978-3-319-92768-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics