Gardner Syndrome Questions & Answers

1. Charifa A, Jamil RT, Zhang X. Gardner Syndrome. Treasure Island, FL: StatPearls; 2022. [Full Text].

2. Quyn AJ, Steele RJ, Carey FA, Näthke IS. Prognostic and therapeutic implications of Apc mutations in colorectal cancer. Surgeon. 2008 Dec. 6 (6):350-6. [QxMD MEDLINE Link].

3. Juhn E, Khachemoune A. Gardner syndrome: skin manifestations, differential diagnosis and management. Am J Clin Dermatol. 2010. 11 (2):117-22. [QxMD MEDLINE Link].

4. Debinski HS, Love S, Spigelman AD, Phillips RK. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology. 1996 Apr. 110 (4):1028-30. [QxMD MEDLINE Link].

5. Gardner RJ, Kool D, Edkins E, Walpole IR, Macrae FA, Nasioulas S, et al. The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene. Gastroenterology. 1997 Jul. 113 (1):326-31. [QxMD MEDLINE Link].

6. Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15. 21 (20):2525-38. [QxMD MEDLINE Link]. [Full Text].

7. Lv Z, Wang C, Wu L, Guo B, Zhang D, Zhang Y, et al. Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome. Mol Med Rep. 2018 Jul. 18 (1):987-992. [QxMD MEDLINE Link]. [Full Text].

8. Tulchinsky H, Keidar A, Strul H, Goldman G, Klausner JM, Rabau M. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg. 2005 Feb. 140 (2):159-63; discussion 164. [QxMD MEDLINE Link]. [Full Text].

9. Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. Imaging Sci Dent. 2016 Dec. 46 (4):267-272. [QxMD MEDLINE Link]. [Full Text].

10. Oliveira MR, Rodrigues WC, Gabrielli MF, Gabrielli MA, Onofre MA, Filho VA. Gardner Syndrome With Unusual Maxillofacial Manifestation. J Craniofac Surg. 2016 Jul. 27 (5):1253-5. [QxMD MEDLINE Link].

11. Ponti G, Tomasi A, Manfredini M, Pellacani G. Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies. Gene. 2016 May 10. 582 (1):23-32. [QxMD MEDLINE Link].

12. Gu GL, Wang SL, Wei XM, Bai L. Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. World J Gastroenterol. 2008 Apr 7. 14 (13):2121-3. [QxMD MEDLINE Link]. [Full Text].

13. Giardiello FM, Yang VW, Hylind LM, Krush AJ, Petersen GM, Trimbath JD, et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med. 2002 Apr 4. 346 (14):1054-9. [QxMD MEDLINE Link]. [Full Text].

14. Half E, Arber N. Colon cancer: preventive agents and the present status of chemoprevention. Expert Opin Pharmacother. 2009 Feb. 10 (2):211-9. [QxMD MEDLINE Link].

15. Bess MA, Adson MA, Elveback LR, Moertel CG. Rectal cancer following colectomy for polyposis. Arch Surg. 1980 Apr. 115 (4):460-7. [QxMD MEDLINE Link].

16. Norwood MG, Mann CD, West K, Miller AS, Hemingway D. Restorative proctocolectomy. Does ethnicity affect outcome?. Colorectal Dis. 2009 Nov. 11 (9):972-5. [QxMD MEDLINE Link].

17. Almendingen K, Fausa O, Høstmark AT, Bratlie J, Mørkerid L, Aabakken L, et al. Serum nutrients and habitual dietary intake in colectomized FAP patients in Norway. Eur J Nutr. 2009 Apr. 48 (3):129-36. [QxMD MEDLINE Link].

18. Ambroze WL Jr, Dozois RR, Pemberton JH, Beart RW Jr, Ilstrup DM. Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy. Dis Colon Rectum. 1992 Jan. 35 (1):12-5. [QxMD MEDLINE Link].

19. Dozois RR, Kelly KA, Welling DR, Gordon H, Beart RW Jr, Wolff BG, et al. Ileal pouch-anal anastomosis: comparison of results in familial adenomatous polyposis and chronic ulcerative colitis. Ann Surg. 1989 Sep. 210 (3):268-71; discussion 272-3. [QxMD MEDLINE Link]. [Full Text].

20. Kartheuser AH, Parc R, Penna CP, Tiret E, Frileux P, Hannoun L, et al. Ileal pouch-anal anastomosis as the first choice operation in patients with familial adenomatous polyposis: a ten-year experience. Surgery. 1996 Jun. 119 (6):615-23. [QxMD MEDLINE Link].

21. Jang YS, Steinhagen RM, Heimann TM. Colorectal cancer in familial adenomatous polyposis. Dis Colon Rectum. 1997 Mar. 40 (3):312-6. [QxMD MEDLINE Link].

22. Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet. 1996 Dec. 59 (6):1193-201. [QxMD MEDLINE Link]. [Full Text].

23. Cobianchi L, Ravetta V, Viera FT, Filisetti C, Siri B, Segalini E, et al. The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option. World J Surg Oncol. 2014 Nov 27. 12:361. [QxMD MEDLINE Link].

Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC Consultant Breast Surgeon, Clementine Churchill Hospital; Consultant Breast Surgeon, Harley Street Breast Clinic, UK

Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada, Royal College of Surgeons of Edinburgh

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

David L Morris, MD, PhD, FRACS Professor, Department of Surgery, St George Hospital, University of New South Wales, Australia

David L Morris, MD, PhD, FRACS is a member of the following medical societies: British Society of Gastroenterology

Disclosure: Received none from RFA Medical for director; Received none from MRC Biotec for director.

John Geibel, MD, MSc, DSc, AGAF Vice Chair and Professor, Department of Surgery, Section of Gastrointestinal Medicine, Professor, Department of Cellular and Molecular Physiology, Yale University School of Medicine; Director of Surgical Research, Department of Surgery, Yale-New Haven Hospital; American Gastroenterological Association Fellow; Fellow of the Royal Society of Medicine

John Geibel, MD, MSc, DSc, AGAF is a member of the following medical societies: American Gastroenterological Association, American Physiological Society, American Society of Nephrology, Association for Academic Surgery, International Society of Nephrology, New York Academy of Sciences, Society for Surgery of the Alimentary Tract

Disclosure: Nothing to disclose.

William T Cummins, MD Consulting Staff, Healthstar Physicians

Disclosure: Nothing to disclose.

Scott M Hovis, MD Staff Physician, Department of General Surgery, Spartanburg Regional Medical Center

Scott M Hovis, MD is a member of the following medical societies: American Medical Association and South Carolina Medical Association

Disclosure: Nothing to disclose.

Sidney R Steinberg, MD, FACS Program Director, Department of General Surgery, Spartanburg Regional Healthcare System; Consulting Surgeon, Department of Surgery, WG Hefner Veterans Affairs Medical Center

Sidney R Steinberg, MD, FACS is a member of the following medical societies: American College of Surgeons, American Medical Association, Association for Surgical Education, South Carolina Medical Association, and Southeastern Surgical Congress

Disclosure: Nothing to disclose.

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