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Prevalence of Barrett esophagus in first-degree relatives of patients with esophageal adenocarcinoma.

ABSTRACT: AIM:The aim of this study is to determine the prevalence of Barrett esophagus (BE) in first-degree relatives of patients with esophageal adenocarcinoma (EAC) and Barrett high-grade dysplasia (HGD). METHODS:After Institutional Review Board approval, first-degree relatives of patients with EAC/HGD underwent unsedated ultrathin transnasal endoscopy (UUTNE) with biopsy. BE was suspected if any salmon-colored epithelial tongues were seen above the gastroesophageal junction. A diagnosis of BE was made only if biopsy from these areas confirmed columnar-lined epithelium with intestinal metaplasia. RESULTS:From 23 families, 47 first-degree relatives underwent ultrathin transnasal endoscopy and 1 patient underwent routine upper endoscopy with sedation as part of this study. The mean age of cases was 44.4 years. All patients tolerated the procedure well and there were no procedure-related complications. BE was suspected in 16 (34%) patients and confirmed in 13 of 16 (27.7%) patients. There were 4 long segments (>3 cm) and 9 short segments (<3 cm) of BE. CONCLUSION:There is a significantly higher than expected prevalence of BE in first-degree relatives of patients with EAC/HGD. This should be taken in to consideration to develop further screening guidelines. Further work is needed to confirm these findings. Unsedated transnasal endoscopy is a safe and well-tolerated method for BE screening.

SUBMITTER: Juhasz A

PROVIDER: S-EPMC3189338 | biostudies-literature | 2011 Nov-Dec

REPOSITORIES: biostudies-literature

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Prevalence of Barrett esophagus in first-degree relatives of patients with esophageal adenocarcinoma.

Juhasz Arpad A Mittal Sumeet K SK Lee Tommy H TH Deng Caishu C Chak Amitabh A Lynch Henry T HT

Journal of clinical gastroenterology 20111101 10

<h4>Aim</h4>The aim of this study is to determine the prevalence of Barrett esophagus (BE) in first-degree relatives of patients with esophageal adenocarcinoma (EAC) and Barrett high-grade dysplasia (HGD).<h4>Methods</h4>After Institutional Review Board approval, first-degree relatives of patients with EAC/HGD underwent unsedated ultrathin transnasal endoscopy (UUTNE) with biopsy. BE was suspected if any salmon-colored epithelial tongues were seen above the gastroesophageal junction. A diagnosis ...[more]

PMID: 21617543

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Project description:Barrett esophagus (BE) occurs in 1% to 10% of the general population and is believed to be the precursor of esophageal adenocarcinoma (EAC). The incidence of EAC has increased 350% in the last 3 decades without clear etiology. Finding predisposition genes may improve premorbid risk assessment, genetic counseling, and management. Genome-wide multiplatform approaches may lead to the identification of genes important in BE/EAC development.To identify risk alleles or mutated genes associated with BE/EAC.Model-free linkage analyses of 21 concordant-affected sibling pairs with BE/EAC and 11 discordant sibling pairs (2005-2006). Significant germline genomic regions in independent prospectively accrued series of 176 white patients with BE/EAC and 200 ancestry-matched controls (2007-2010) were validated and fine mapped. Integrating data from these significant genomic regions with somatic gene expression data from 19 BE/EAC tissues yielded 12 "priority" candidate genes for mutation analysis (2010). Genes that showed mutations in cases but not in controls were further screened in an independent prospectively accrued validation series of 58 cases (2010).Identification of germline mutations in genes associated with BE/EAC cases. Functional interrogation of the most commonly mutated gene.Three major genes, MSR1, ASCC1, and CTHRC1 were associated with BE/EAC (all P < .001). In addition, 13 patients (11.2%) with BE/EAC carried germline mutations in MSR1, ASCC1, or CTHRC1. MSR1 was the most frequently mutated, with 8 of 116 (proportion, 0.069; 95% confidence interval [CI], 0.030-0.130; P < .001) cases with c.877C>T (p.R293X). An independent validation series confirmed germline MSR1 mutations in 2 of 58 cases (proportion, 0.035; 95% CI, 0.004-0.120; P = .09). MSR1 mutation resulted in CCND1 up-regulation in peripheral-protein lysate. Immunohistochemistry of BE tissues in MSR1-mutation carriers showed increased nuclear expression of CCND1.MSR1 was significantly associated with the presence of BE/EAC in derivation and validation samples, although it was only present in a small percentage of the cases.

Project description:PurposeAlthough there is a high prevalence of keratoconus in the Middle East including Israel, limited data is available describing first-degree relatives of patients with sporadic keratoconus (KC) using Scheimpflug imaging. The purpose of this study is to accurately phenotype first-degree relatives of patients with sporadic KC in Israel using corneal tomography, which may help determine the genetic aetiology of KC.MethodsFirst-degree relatives (N = 56) of 16 KC probands participated in this prospective case-control study. Healthy controls (N = 96) were from a previous study. Autorefraction, visual acuity, slit lamp biomicroscopy, retinoscopy, subjective refraction and Scheimpflug imaging (CSO Sirius Topographer) of keratoconus patients and their first-degree relatives were evaluated. The worse eye was used for KC and KC suspects. The main outcome measure was prevalence of abnormal corneal topography and tomography parameters, which was compared between first-degree relatives vs controls. p values < 0.05 were considered significant.ResultsKC (N = 2) or KC suspect (N = 8) was diagnosed in 18% (95% CI 8-28%) of the first-degree relatives. At least one abnormal corneal parameter was evident in 34% of first-degree relatives, while this was significantly lower for controls (14%, χ2 (1, N = 152) = 8.8, p = 0.01). Qualitative analysis showed KC first-degree relatives had significantly more abnormal anterior corneal topography patterns than controls (34% vs 17%, χ2 (1, N = 152) = 5.9, p = 0.02). For first-degree relatives, sex was not a factor influencing prevalence of corneal abnormalities (18% for both men and women, χ2 (1, N = 56) = 0.0, p = 1.0). A significant correlation was found for first-degree relatives between age and most corneal parameters, while this was not evident for the control group.Conclusions and relevanceEye care practitioners should consider first-degree relatives of patients with KC at moderate risk for the disease and/or corneal abnormalities.

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Prevalence of Barrett esophagus in first-degree relatives of patients with esophageal adenocarcinoma.

Publications

Prevalence of Barrett esophagus in first-degree relatives of patients with esophageal adenocarcinoma.

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