Family History of Colorectal or Esophageal Cancer in Barrett's Esophagus and Potentially Explanatory Genetic Variants.
Aged
Barrett Esophagus
/ diagnosis
Biomarkers, Tumor
/ genetics
Case-Control Studies
Colonoscopy
Colorectal Neoplasms
/ diagnosis
DNA Mutational Analysis
Esophageal Neoplasms
/ epidemiology
Esophagoscopy
Esophagus
/ diagnostic imaging
Genetic Predisposition to Disease
Genetic Testing
Humans
Male
Medical History Taking
/ statistics & numerical data
Middle Aged
Polymorphism, Single Nucleotide
Risk Factors
Journal
Clinical and translational gastroenterology
ISSN: 2155-384X
Titre abrégé: Clin Transl Gastroenterol
Pays: United States
ID NLM: 101532142
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
entrez:
7
4
2020
pubmed:
7
4
2020
medline:
11
5
2021
Statut:
ppublish
Résumé
We aimed to estimate the effects of a family history of colorectal cancer (CRC) or esophageal cancer on the risk of Barrett's esophagus (BE) and identify variants in cancer genes that may explain the association. Men scheduled for screening colonoscopy were recruited to undergo upper endoscopy. Cases and noncases were screenees with and without BE, respectively. The effects of family histories on BE were estimated with logistic regression, adjusting for the potential confounders. We additionally recruited men recently diagnosed with BE by clinically indicated endoscopies. Banked germline DNA from cases of BE with ≥2 first-degree relatives (FDRs) with CRC and/or an FDR with esophageal cancer underwent next-generation sequencing using a panel of 275 cancer genes. Of the 822 men screened for CRC who underwent upper endoscopy, 70 were newly diagnosed with BE (8.5%). BE was associated with family histories of esophageal cancer (odds ratio = 2.63; 95% confidence interval = 1.07-6.47) and CRC in ≥2 vs 0 FDRs (odds ratio = 3.73; 95% confidence interval = 0.898-15.4). DNA analysis of subjects with both BE and a family history of cancer identified one or more germline variants of interest in genes associated with cancer predisposition in 10 of 14 subjects, including the same novel variant in EPHA5 in 2 unrelated individuals. We found an increased risk for BE associated with a family history of esophageal cancer or CRC. Although analysis of germline DNA yielded no clinically actionable findings, discovery of the same EPHA5 variant of uncertain significance in 2 of 14 cases merits additional investigation.
Identifiants
pubmed: 32251017
doi: 10.14309/ctg.0000000000000151
pii: 01720094-202004000-00003
pmc: PMC7263651
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
e00151Subventions
Organisme : CSRD VA
ID : I01 CX000899
Pays : United States
Organisme : NIDDK NIH HHS
ID : K23 DK079291
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA199336
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA163059
Pays : United States
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