rs10419226 - CRTC1

Magnitude 2.2 · 1 study on file

Reported associations

  • A Genome-Wide Association Study Identifies New Susceptibility Loci for Esophageal Adenocarcinoma and Barrett's Esophagus - Unknown journal (n.d.) · Unknown authors · PubMed 24121790

    [INTRO] Esophageal adenocarcinoma is a cancer with rising incidence and poor survival. Most such cancers arise in a specialized intestinal metaplastic epithelium, which is diagnostic of Barrett's esophagus. In a genome-wide association study, we compared esophageal adenocarcinoma cases (n=2,390) and patients with precancerous Barrett's esophagus (n=3,175) with 10,120 controls in two phases. For the combined case group we identified three new associations. The first is on 19p13 (rs10419226, P=3.6×10−10) in CRTC1 (CREB-regulated transcription co-activator), whose aberrant activation has been associated with oncogenic activity. A second is on 9q22 (rs11789015, P=1.0×10−9) in BARX1, which encodes a transcription factor important in esophageal specification. A third is on 3p14 (rs2687


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • Barrett's esophagus screening based on genetic risk High

    rs10419226 increases Barrett's esophagus odds 1.18-fold through altered CRTC1 oncogenic signaling when LKB1 tumor suppressor is downregulated

    Discuss screening eligibility with gastroenterologist, particularly if chronic GERD or other risk factors present