Expressive

rs113203744 - CPNE1 - NFS1

Magnitude 2.2 · 1 study on file

Reported associations

  • Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma - Unknown journal (n.d.) · Unknown authors · PubMed 38182794

    ABSTRACT: Basal cell carcinoma (BCC) is one of the most common malignancies worldwide, yet its genetic determinants are incompletely defined. We perform a European ancestry genome-wide association (GWA) meta-analysis and a Hispanic/Latino ancestry GWA meta-analysis and meta-analyze both in a multi-ancestry GWAS meta-analysis of BCC, totaling 50,531 BCC cases and 762,234 controls from four cohorts (GERA, Mass-General Brigham Biobank, UK Biobank, and 23andMe research cohort). Here we identify 122 BCC-associated loci, of which 36 were novel, and subsequently fine-mapped these associations. We also identify an association of the well-known pigment gene SLC45A2 as well as associations at RCC2 and CLPTM1L with BCC in Hispanic/Latinos. We examine these BCC loci for association with cutaneous squa

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Lifestyle context

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

Discuss with your doctor

  • Optimized sun protection strategy for elevated BCC risk Moderate

    rs113203744-G increases basal cell carcinoma risk; UV exposure is primary modifiable risk factor

    Discuss daily broad-spectrum SPF 30+ sunscreen, protective clothing, and peak sun avoidance

Lifestyle

  • Monthly skin self-examination for new or changing lesions Moderate

    Elevated basal cell carcinoma risk from rs113203744-G variant supports heightened skin surveillance

    Full-body skin self-exam monthly using ABCDE criteria

Screening

  • Annual dermatologic screening for basal cell carcinoma Moderate

    rs113203744-G allele increases basal cell carcinoma susceptibility; associated with reduced CPNE1 expression in skin tissues

    Full-body skin examination by dermatologist annually starting age 30