FaCD Online Syndrome Fact Sheet

Last updated: 05 Mar 2010

Name: Barrett's Esophagus, Familial

Mode of Inheritance: AD?/ multifact?

OMIM number: 109350  

Tumor features

esophagus, adenocarcinoma of the

Tumor features (possible)

colorectal cancer
colorectal polyps
gastric cancer
tongue cancer

Non-tumor features

esophagus, Barrett


Barrett's esophagus and esophageal adenocarcinoma are complications of gastroesophageal reflux[1], which may show familial clustering as has been demonstrated by for example Romero et al.[2]. These authors reported that reflux symptoms were significantly more prevalent among parents and siblings of patients with esophageal adenocarcinoma and/or Barrett's esophagus than among controls. Other authors have reported familial cases as well. Hampel et al.[3] reported on 3 families and suggested that Barrett esophagus families possibly are at an increased risk to develop extra-esophageal cancer, notably of the digestive tract, as well. Additional famililal clusters have been reported [4-8,11] and family history is now an acknowledged risk factor[10]. Chak et al showed that a family history of Barrett's esophagus can be confirmed in 7.3% of persons presenting with Barrett's esophagus, adenocarcinoma of the esophagus, or adenocarcinoma of the gastroesophageal junction[5]. Linkage analyses are underway[9]. Sun et al analysed segregation in 881 families presenting with Barrett's esophagus and concluded that an autosomal dominant inheritance with penetrance of approximately 10% and subject to polygenic modifiers, was the best fitting model[12].


[1] Van den Boogert J, van Hillegersberg R, de Bruin RWF, Tilanus HW, Siersema PD. Barrett's oesophagus: pathophysiology, diagnosis, and management. Scand J Gastroenterol 1998; 33:449-453.
[2] Romero Y, Cameron AJ, Locke GR, Schaid DJ, Slezak JM, Branch CD, Melton LJ. Familial aggregation of gastroesophageal reflux in patients with Barrett's esophagus and esophageal adenocarcinoma. GASTROENTEROLOGY 113[5], 1449-1456. 1997.
[3] Hampel H, Poling BA, Curtis M, Mascari M, Fromkes JJ, Eng C. Familial barrett esophagus: a true hereditary cancer syndrome. Am J Hum Genet 65[4], A40. 1999.
[4] Chak A, Lee T, Kinnard MF, Brock W, Faulx A, Willis J, Cooper GS, Sivak MV, Goddard KA. Familial aggregation of Barrett's oesophagus, oesophageal adenocarcinoma, and oesophagogastric junctional adenocarcinoma in Caucasian adults. Gut 2002; 51(3):323-8.
[5] Chak A, Ochs-Balcom H, Falk G, Grady WM, Kinnard M, Willis JE, Elston R, Eng C. Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006; 15(9):1668-73.
[6] Groves C, Jankowski J, Barker F, Holdstock G. A family history of Barrett's oesophagus: another risk factor?. Scandinavian journal of gastroenterology 2005; 40(9):1127-8.
[7] Melzer E, Shtoyerman R, Appelman Z, Kashtan H. Familial Barrett's adenocarcinoma. The American journal of gastroenterology 2006; 101(3):677.
[8] Sappati Biyyani RS, Chessler L, McCain E, Nelson K, Fahmy N, King J. Familial trends of inheritance in gastro esophageal reflux disease, Barrett's esophagus and Barrett's adenocarcinoma: 20 families. Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus / I.S.D.E 2007; 20(1):53-7.
[9] Ochs-Balcom HM, Falk G, Grady WM, Kinnard M, Willis J, Elston R, Eng C, Chak A. Consortium approach to identifying genes for Barrett's esophagus and esophageal adenocarcinoma. Translational research : the journal of laboratory and clinical medicine 2007; 150(1):3-17.
[10] Robertson EV, Jankowski JA. Genetics of gastroesophageal cancer: paradigms, paradoxes, and prognostic utility. The American journal of gastroenterology 2008; 103(2):443-9.
[11] Munitiz V, Parrilla P, Ortiz A, Martinez-de-Haro LF, Yelamos J, Molina J. High risk of malignancy in familial Barrett's esophagus: presentation of one family. J Clin Gastroenterol. 2008 Aug;42(7):806-9.
[12] Sun X, Elston R, Barnholtz-Sloan J, Falk G, Grady WM, Kinnard M, Mittal SK, Willis JE, Markowitz S, Brock W, Chak A. A Segregation Analysis of Barrett's Esophagus and Associated Adenocarcinomas. Cancer Epidemiol Biomarkers Prev. 2010 Mar 3. [Epub ahead of print]