Familial Gastroesophageal Reflux and Development of Barrett's Esophagus

Crabb, David W.; Berk, Michael; Hall, Thomas R.; Conneally, P. M.; Biegel, Angenieta A.; Lehman, Glen A.

doi:10.7326/0003-4819-103-1-52

Cited by 98 publications

(42 citation statements)

References 11 publications

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“…Barrett's oesophagus is an established risk factor of both oesophageal adenocarcinoma (OR 43.5) and gastric cardia cancer (OR 4.4) (Lagergren et al, 1999a). Familial clustering of Barrett's oesophagus has been described (Crabb et al, 1985;Jochem et al, 1992), suggesting that the hereditary components for Barrett's oesophagus could be related to both cardia and oesophageal adenocarcinomas. Other factors, either genetic or environmental, may be also related to the family aggregations of cardia cancer (Chow et al, 1998;Zhang et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

Familial risk for gastric carcinoma: an updated study from Sweden

Hemminki

Sundquist

2007

Br J Cancer

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Reliable data on familial risks are important for clinical counselling and cancer genetics. However, the estimates of familial risk of gastric cancer vary widely. We examined the risk of familial gastric cancer using the updated Swedish Family-Cancer Database with 5358 patients among offspring and 36 486 patients among parents. There were 133 families with one parent and one offspring diagnosed with gastric cancer, and 20 families with two affected offspring. Familial standardised incidence ratios (SIRs) were 1.63 and 2.93 when parents and siblings presented with gastric cancer, respectively. The high sibling risk was owing to cancer in the corpus (SIR 7.28). The SIR for cardia cancer was 1.54 when parents were diagnosed with any gastric cancer. Cardia cancer associated with oesophageal cancer, particularly with oesophageal adenocarcinoma. Among specific histologies, signet ring cancer showed an increase. A few associations were noted for discordant sites, including the urinary bladder and the endometrium. H. pylori infection, although not measured in the present study, is probably an important risk factor for the high sibling risk of corpus cancer. Familial clustering of cardia cancer is independent of H. pylori infection, and may have a genetic basis. The familial association of cardia cancer with oesophageal adenocarcinoma may provide aetiological clues.

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Section: Discussionmentioning

confidence: 99%

Familial risk for gastric carcinoma: an updated study from Sweden

Hemminki

Sundquist

2007

Br J Cancer

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“…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].…”

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confidence: 99%

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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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“…Several case reports have been published describing families in which multiple members have reflux symptoms, Barrett's esophagus, and sometimes esophageal adenocarcinoma, in up to four generations (11)(12)(13)(14)(15)(16)(17)(18)(19). In one report of an index patient with reflux esophagitis, seven of 28 (25%) relatives met criteria for GERD (17).…”

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confidence: 99%

“…Four case reports have examined index patients with Barrett's esophagus. Among relatives willing to participate, endoscopic evidence of Barrett's was found in 25 of 88 (28%) (13)(14)(15)18). Of those who did not have Barrett's, 37 of 88 (42%) had heartburn or reflux esophagitis (13)(14)(15)18).…”

mentioning

confidence: 99%