Expressive

rs113095798 - RCC2

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.

Lifestyle

  • Daily photoprotective measures High

    Physical and chemical UV barriers reduce DNA damage load in context of impaired RCC2-mediated repair.

    Apply broad-spectrum sunscreen SPF 30+ daily, wear protective clothing, hat, and sunglasses outdoors

  • Excessive cumulative sun exposure High

    UV-induced DNA damage accumulates in basal cells; RCC2 variants reduce capacity to repair such damage.

    Minimize midday sun (10 AM-4 PM), seek shade when outdoors, limit intentional tanning

Screening

  • Annual dermatological screening for basal cell carcinoma High

    RCC2-associated variants impair DNA double-strand break repair; increased surveillance enables early detection of BCC.

    Annual full-body skin examination by dermatologist, baseline mole photography for monitoring