Comparison of Endoscopic and Clinical Characteristics of Patients with Familial and Sporadic Barrett’s Esophagus

Ash, Samuel Y.; Vaccaro, Benjamin J.; Dabney, Mary Kay; Chung, Wendy K.; Lightdale, Charles J.; Abrams, Julian A.

doi:10.1007/s10620-011-1620-3

Cited by 13 publications

(36 citation statements)

References 14 publications

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“…Two studies estimated the prevalence of familial BE by reporting the proportion of patients diagnosed with BE, EAC or GEJAC that had at least one other family member diagnosed with BE, EAC or GEJAC. Chak et al [22] reported that about 7% fulfill the criteria of familial BE, which is in line with the 6% reported by Ash et al [23]. Including GEJAC in familial BE can be criticized, since a tumor present on the gastroesophageal junction can originate either from the esophagus or the gastric cardia.…”

Section: Prevalence Of Familial Eacmentioning

confidence: 64%

“…Several studies reported a lower age at diagnosis for patients with familial BE and/or EAC compared with sporadic cases [9,13,23,33,34]. Other studies could not confirm these observations [22,28,32].…”

Section: Risk Factors and Patient Characteristicsmentioning

confidence: 98%

“…No differences in gender, ethnicity and in addition in nicotine abuse and alcohol consumption were reported between patients with familial BE and/or EAC and sporadic cases [22,23,28,32]. Contradictory results were observed regarding the prevalence of obesity, with some studies reporting no difference in prevalence [28,32], while others reported a lower body mass index for patients with familial BE and/or EAC compared to sporadic cases [22,33].…”

Section: Risk Factors and Patient Characteristicsmentioning

confidence: 99%

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Hereditary Factors in Esophageal Adenocarcinoma

Nistelrooij¹,

Dinjens²,

Wagner³

et al. 2014

Gastrointest Tumors

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Background: The vast majority of Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of EAC. Here, we review data from the published literature in order to address the current knowledge on familial EAC. Summary: Although familial EAC comprises a relatively small group of patients, it is a clinically relevant category due to the poor prognosis of this type of cancer. Efforts should be made to identify specific genetic risk factors for familial EAC to enable identification of relatives at risk, since endoscopic surveillance can diagnose preneoplastic or early neoplastic lesions leading to early treatment, with improved outcome. Key Message: Although familial EAC comprises a relatively small group of patients, this is a clinically relevant category due to the poor prognosis. Efforts should be made to identify specific genetic risk factors for familial EAC in order to facilitate the identification of other family members with a predisposition for this type of cancer. Practical Implications: Approximately 7% of BE and EAC cases are considered familial. Age at diagnosis is generally lower for patients with familial EAC as compared to sporadic cases, while other known risk factors for EAC, such as male gender and Caucasian ethnicity, do not differ between the two groups. In several described families with clustering of EAC the pattern of inheritance seems to be consistent with a rare autosomal dominant genetic trait. However, some association has been found with (attenuated) familial adenomatous polyposis, mismatch repair deficiency and recently with the genes MSR1, ASCC1 and CTHRC1. Nevertheless, no specific genetic predisposition has yet been identified.

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Section: Prevalence Of Familial Eacmentioning

confidence: 64%

Section: Risk Factors and Patient Characteristicsmentioning

confidence: 98%

Section: Risk Factors and Patient Characteristicsmentioning

confidence: 99%

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Hereditary Factors in Esophageal Adenocarcinoma

Nistelrooij¹,

Dinjens²,

Wagner³

et al. 2014

Gastrointest Tumors

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“…In this issue of Digestive Diseases and Sciences, Ash and colleagues have begun to address these effects by studying their cohort of patients with Barrett's esophagus [7]. Records of nearly 1,000 patients with Barrett's esophagus were abstracted regarding their family history of either Barrett's esophagus or esophageal cancer, and those with a positive history were interviewed for details.…”

mentioning

confidence: 99%

“…The study by Ash and colleagues examines the effect of familiarity in Barrett's esophagus, but this does not necessarily mean that the effects are a consequence of genetic differences [7]. Familiarity can also be due to shared environment, for example tobacco habits, or eating and physical activity habits leading to obesity.…”

mentioning

confidence: 99%

Familial Barrett’s Esophagus: Clues to Genetic Risks for Esophageal Adenocarcinoma

Rubenstein

2011

Dig Dis Sci

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Esophageal adenocarcinoma is a particularly deadly neoplasm, and the incidence of it has been rising at an alarming rate in recent decades in Western countries [1,2]. Barrett's esophagus has been recognized as a precursor lesion for cancer, and screening and subsequent surveillance or other intervention for this lesion is an attractive proposition. Despite the rising incidence, the cancer still remains relatively uncommon. Therefore, selecting highrisk patients for screening, surveillance, or intervention is important in order to make the practice economically reasonable. Risk factors have been established for the cancer and for Barrett's esophagus, including male gender, white race, older age, symptoms of gastroesophageal reflux, obesity, tobacco use, and absence of infection with Helicobacter pylori. However, most of these factors are highly prevalent in Western societies, so more specific risk factors would improve the efficiency of clinical practice. The association with white race might be because of environmental differences among races, but also suggests that genetic factors play an important role.Obviously, humans are not evolving rapidly enough to explain the rising incidence of esophageal adenocarcinoma, which is certainly because of relatively recent changes in environment or behavior. However, those changes in environment and behavior may interact with genetic factors, such that only genetically predisposed individuals develop the cancer in the modern setting of obesity and low prevalence of Helicobacter pylori. Indeed, a family history of esophageal adenocarcinoma or Barrett's esophagus has been associated with the presence of both of those diagnoses [3]. A number of case reports of individual families suggest an autosomal dominant pattern of inheritance with incomplete penetrance [4][5][6].Familial effects on the risk of esophageal adenocarcinoma may act via the promotion of other known risk factors (such as obesity or gastroesophageal reflux), via the promotion of Barrett's esophagus among those with the recognized risk factors, via the promotion of neoplastic transformation within Barrett's esophagus, or combinations of these loci of effects. In this issue of Digestive Diseases and Sciences, Ash and colleagues have begun to address these effects by studying their cohort of patients with Barrett's esophagus [7]. Records of nearly 1,000 patients with Barrett's esophagus were abstracted regarding their family history of either Barrett's esophagus or esophageal cancer, and those with a positive history were interviewed for details. Nearly 6% of patients with Barrett's esophagus were found to have a positive family history. The investigators then compared these familial cases of Barrett's esophagus with the non-familial cases, seeking differences in demographics or clinical characteristics. Of note, they found no difference in gender, race, smoking history, presence of Helicobacter pylori, hiatal hernia, or length of Barrett's esophagus. The investigators did find that familial cases were younger, and...

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Tumours of the oesophagus

Lisovsky,

Srivastava

2024

Morson and Dawson's Gastrointestinal Pathology

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Comparison of Endoscopic and Clinical Characteristics of Patients with Familial and Sporadic Barrett’s Esophagus

Cited by 13 publications

References 14 publications

Hereditary Factors in Esophageal Adenocarcinoma

Hereditary Factors in Esophageal Adenocarcinoma

Familial Barrett’s Esophagus: Clues to Genetic Risks for Esophageal Adenocarcinoma

Tumours of the oesophagus

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