Familial Clustering of Barrett's Esophagus and Esophageal Adenocarcinoma in a European Cohort

Verbeek, Romy E.; Spittuler, Lisanne F.; Peute, Anique; Oijen, Martijn G.H. van; Kate, Fiebo J. ten; Vermeijden, J. Reinoud; Oberndorff, Ardi; Baal, Jantine W. P. M. van; Siersema, Peter D.

doi:10.1016/j.cgh.2014.01.028

Cited by 42 publications

(47 citation statements)

References 25 publications

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“…It is therefore possible that it is GERD that is inherited and that BE is simply an indirect consequence. Certainly, some studies have noted an association of BE with GERD in BE families [52,61,62] although others found that GERD was not a universal clinical feature of familial BE [53]. In addition, there were similar (rather than higher) rates of GERD symptoms in relatives of patients with familial BE when compared with a cohort of relatives of sporadic BE cases [56].…”

Section: Familial Bementioning

confidence: 92%

“…To improve recruitment of BE families, subsequent studies were conducted to systematically recruit cases through hospital case series [52][53][54]. These studies indicate that between 5 and 7 % of BE/EAC cases report a family history of either disease [6,52], while Chak et al reported a higher prevalence of BE/EAC in relatives of cases of BE when compared with controls without BE (24 vs. 5 % p \ 0.005) [55,56].…”

Section: Familial Bementioning

confidence: 97%

“…While some studies have used a strict definition of three or more affected relatives (i.e., proband plus 2 or more others) to define familial BE [53], others included families with just two affected relatives (proband plus one other) [52,54], which has a higher probability of occurring by chance. Relatives with EAC are included in the definition of familial BE as it is assumed that EAC arises from BE [51], but it is possible that familial EAC may be distinct from familial BE.…”

Section: Familial Bementioning

confidence: 99%

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The Genetics of Barrett’s Esophagus: A Familial and Population-Based Perspective

Clemons

Duong

et al. 2016

Dig Dis Sci

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Barrett's esophagus (BE) is intestinal metaplasia of the lower esophagus and a precursor lesion for esophageal adenocarcinoma (EAC). Both are important health issues as they have rising incidences in the Western world. Improving the management of BE relies on understanding the underlying biology of this disease, but the exact biological mechanisms have been difficult to determine. BE is generally thought to be an acquired condition that develops secondarily to chronic gastroesophageal reflux. However, multiple reports of familial clustering of patients with BE and/or EAC suggest a possible inherited predisposition to BE may be driving this condition, at least in a subset of patients. Identifying the genetic variants that predispose to BE in these families would open up the possibility for blood-based screening tests that could inform decision-making in regard to surveillance strategies, particularly for relatives of patients with BE and/or EAC. Perhaps more importantly, understanding the genetic mechanisms that predispose to BE may provide valuable insights into the biology of this condition and potentially identify novel targets for therapeutic intervention. Here we review the current evidence for a genetic predisposition to BE and discuss the potential implications of these findings.

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Section: Familial Bementioning

confidence: 92%

Section: Familial Bementioning

confidence: 97%

Section: Familial Bementioning

confidence: 99%

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The Genetics of Barrett’s Esophagus: A Familial and Population-Based Perspective

Clemons

Duong

et al. 2016

Dig Dis Sci

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“…If validated, this score could be important for determining which patients are at higher risk of developing an adenocarcinoma and would therefore benefit the most from inclusion in a program of intensive surveillance. A familial aggregation of BE has also been described [36]. …”

Section: Introductionmentioning

confidence: 99%

Progression of Barrett’s esophagus toward esophageal adenocarcinoma: an overview

Schoofs

Bisschops

Prenen

2016

aog

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In Barrett’s esophagus, normal squamous epithelium is replaced by a metaplastic columnar epithelium as a consequence of chronic gastroesophageal reflux disease. There is a strong association with esophageal adenocarcinoma. In view of the increasing incidence of esophageal adenocarcinoma in the western world, it is important that more attention be paid to the progression of Barrett’s esophagus toward esophageal adenocarcinoma. Recently, several molecular factors have been identified that contribute to the sequence towards adenocarcinoma. This might help identify patients at risk and detect new targets for the prevention and treatment of esophageal adenocarcinoma in the future.

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“…A positive family history of BE or EAC has been observed in approximately 7% of patients with BE, and BE patients are more likely to report a positive family history of BE than the general population . This aggregation of BE and its associated cancers in families has been termed familial BE, suggesting a role for genetic factors in the pathogenesis of BE .…”

Section: Introductionmentioning

confidence: 99%

Risk factors for Barrett's esophagus

Arora

Garber

Thota

2016

J of Digest Diseases

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Barrett's esophagus (BE) is a well-recognized precursor of esophageal adenocarcinoma (EAC) and is defined as ≥1 cm segment of salmon-colored mucosa extending above the gastroesophageal junction into the tubular esophagus with biopsy confirmation of metaplastic replacement of the normal squamous epithelium by intestinal-type columnar epithelium. The incidence of both BE and EAC has been increasing over the past few decades. As a result, preventing the development of BE by identifying and understanding its modifiable and non-modifiable risk factors may help reduce the incidence of EAC. Over the recent past, a tremendous amount of progress has been made towards improving our knowledge of risk factors and pathogenesis of BE. This article reviews the evidence for the various risk factors for developing BE.

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Familial Clustering of Barrett's Esophagus and Esophageal Adenocarcinoma in a European Cohort

Cited by 42 publications

References 25 publications

The Genetics of Barrett’s Esophagus: A Familial and Population-Based Perspective

The Genetics of Barrett’s Esophagus: A Familial and Population-Based Perspective

Progression of Barrett’s esophagus toward esophageal adenocarcinoma: an overview

Risk factors for Barrett's esophagus

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