Expressive

rs112568268 - C11orf65

Magnitude 2.2 · 2 studies on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • 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.

Bloodwork

  • Baseline complete blood count with platelet indices Moderate

    Genetic variant associated with higher mean platelet volume; baseline assessment provides individual risk stratification

    Include complete blood count with differential and platelet indices in baseline health panel

Discuss with your doctor

  • Discuss personalized skin cancer surveillance strategy High

    Genetic predisposition warrants individualized assessment of screening intensity and prevention approach

    Review baseline risk, family history, and optimal surveillance interval with dermatologist

Lifestyle

  • Daily broad-spectrum sunscreen use High

    Cumulative UV exposure drives basal cell carcinoma; genetic variant increases baseline susceptibility

    Apply broad-spectrum SPF 30+ daily, reapply every 2 hours during extended sun exposure

  • Minimize midday direct UV exposure High

    UV exposure is primary environmental driver of basal cell carcinoma; genetic predisposition amplifies risk

    Seek shade between 10am-4pm; wear protective clothing and wide-brimmed hat when outdoors

Screening

  • Annual skin cancer surveillance High

    Genetic predisposition to basal cell carcinoma warrants regular surveillance

    Schedule annual or bi-annual full-body skin examinations

  • Baseline dermatology screening for skin cancer High

    Genetic variant associated with increased basal cell carcinoma risk in large GWAS (n=802297, p=1e-10)

    Schedule baseline full-body skin examination with dermatologist