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Genetic and Rare Diseases Information Center (GARD)

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Gardner syndrome


Other Names for this Disease

  • Gardner's syndrome
  • Intestinal polyposis, osteomas, sebaceous cysts
  • Polyposis coli and multiple hard and soft tissue tumors
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Can you point me to information that links papillary thyroid cancer with familial adenomatous polyposis (FAP) / Gardner syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can you point me to information that links papillary thyroid cancer with familial adenomatous polyposis/Gardner syndrome?

The lifetime risk thyroid cancer in people with familial adenomatous polyposis (FAP) ranges from 2-12%. It is most commonly diagnosed in women under age 30. About 95% of these cancers are papillary thyroid carcinomas.[1][2]

The following resources discuss the association between papillary thyroid cancer and FAP/Gardner syndrome.

Online Mendelian Inheritance in Man (OMIM) is an online catalog of human genes and genetic disorders. Each entry summarizes the information that has been published in medical journals. Although this database is designed for professionals, OMIM may be helpful to anyone looking for comprehensive information. Because the information in OMIM is complex, you may benefit from discussing it with a medical professional. Click on the following link for the OMIM page on:
http://omim.org/clinicalSynopsis/175100  

The National Cancer Institute (NCI) discusses extracolonic tumors which are associated with FAP/Gardner syndrome at the following link. Papillary thyroid cancer is among the tumors described.
http://www.cancer.gov/cancertopics/pdq/genetics/colorectal/HealthProfessional/page4#Section_251

You can find relevant articles on papillary thyroid cancer in FAP/Gardner syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using 'papillary thyroid cancer AND FAP' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
http://www.ncbi.nlm.nih.gov/PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Several articles which discuss the association are linked below.

Jarrar AM, Milas M, Mitchell J, Laguardia L, O'Malley M, Berber E, Siperstein A, Burke C, Church JM. Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg. 2011 Mar;253(3):515-21.

Martayan A, Sanchez-Mete L, Baldelli R, Falvo E, Barnabei A, Conti L, Giacomini P, Appetecchia M, Stigliano V. Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation. J Endocrinol Invest. 2010 Oct;33(9):603-6.

Harb WJ, Sturgis EM. Differentiated thyroid cancer associated with intestinal polyposis syndromes: a review. Head Neck. 2009 Nov;31(11):1511-9.

Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJ, Links TP, Van Beek AP: Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 2008, 15:2439-2450. (PMID: 18612695)

Cetta F, Montalto G, Gori M, Curia MC, Cama A, Olschwang S. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab. 2000 Jan;85(1):286-92.

Truta B, Allen BA, Conrad PG, Kim YS, Berk T, Gallinger S, Bapat B, Terdiman JP, Sleisenger MH. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer. 2003;2(2):95-9.

Herraiz M, Barbesino G, Faquin W, Chan-Smutko G, Patel D, Shannon KM, Daniels GH, Chung DC. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol. 2007 Mar;5(3):367-73. Epub 2007 Jan 26.



Last updated: 11/27/2014

References
  • Kory W Jasperson, MS and Randall W Burt, MD. APC-Associated Polyposis Conditions. GeneReviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
  • Martyan A, Sanchez-Mete L, Baldelli R, Falvo E, Barnabei A, Conti L, Giacomini P, Appetecchia M, Stigliano V. Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation. J Endocrinol Invest. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20935450. Accessed 9/2/2011.
Other Names for this Disease
  • Gardner's syndrome
  • Intestinal polyposis, osteomas, sebaceous cysts
  • Polyposis coli and multiple hard and soft tissue tumors
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.