Expressive

rs1057941 - GBA1LP, GBA1LP

Magnitude 2.8 · 2 studies on file

Reported associations

  • Cross-cancer genome-wide analysis of lung, ovary, breast, prostate and colorectal cancer reveals novel pleiotropic associations - Unknown journal (n.d.) · Unknown authors · PubMed 27197191

    ABSTRACT: Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-staged approach to conduct genome-wide association studies for lung, ovary, breast, prostate and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung. We also identified a known breast cancer locus CASP8/ALS2CR12 associated with prostate cancer, a known cancer locus at CDKN2B-AS1 with different variants associated wi

  • Genome‐wide association study identifies gastric cancer susceptibility loci at 12q24.11‐12 and 20q11.21 - Unknown journal (n.d.) · Unknown authors · PubMed 30281874

    ABSTRACT: Gastric cancer is the third leading cause of cancer mortality in Japan and worldwide. Although previous studies identify various genetic variations associated with gastric cancer, host genetic factors are largely unidentified. To identify novel gastric cancer loci in the Japanese population, herein, we carried out a large‐scale genome‐wide association study using 6171 cases and 27 178 controls followed by three replication analyses. Analysis using a total of 11 507 cases and 38 904 controls identified two novel loci on 12q24.11‐12 (rs6490061, P = 3.20 × 10−8 with an odds ratio [OR] of 0.905) and 20q11.21 (rs2376549, P = 8.11 × 10−10 with an OR of 1.109). rs6490061 is located at intron 19 of the CUX2 gene, and its expression was suppressed by Helicobacter py

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Lifestyle context

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

Discuss with your doctor

  • H. pylori testing and eradication strategy High

    H. pylori infection accounts for approximately 90 percent of gastric cancer cases; this variant impairs the DNA repair response to H. pylori-induced mucosal damage

    If not previously tested, request serology or breath test; discuss eradication therapy if positive, as treatment reduces gastric cancer risk 30-40 percent

Screening

  • Gastric cancer risk assessment and endoscopic screening High

    rs1057941 risk allele (A) confers 1.332-fold increased odds for gastric cancer across 33,349 cases; effect is strongest in H. pylori-infected individuals and involves impaired DNA repair via CUX2

    Discuss with gastroenterologist about baseline endoscopy if age 40+, family history of gastric cancer, or confirmed H. pylori infection

  • Breast and lung cancer screening Moderate

    rs1057941 risk allele increases breast cancer odds 1.07-fold and lung squamous cell carcinoma 1.10-fold via ADAM15 and THBS3 upregulation affecting cell adhesion and tumor progression

    Adhere to standard cancer screening guidelines; discuss with oncology if multiple family history or early-onset cancer in relatives