Expressive

rs11894986 - GACAT3 - CYRIA

Magnitude 2.2 · 1 study on file

Reported associations

  • Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition - Unknown journal (n.d.) · Unknown authors · PubMed 34290314

    ABSTRACT: The characterization of germline genetic variation affecting cancer risk, known as cancer predisposition, is fundamental to preventive and personalized medicine. Studies of genetic cancer predisposition typically identify significant genomic regions based on family-based cohorts or genome-wide association studies (GWAS). However, the results of such studies rarely provide biological insight or functional interpretation. In this study, we conducted a comprehensive analysis of cancer predisposition in the UK Biobank cohort using a new gene-based method for detecting protein-coding genes that are functionally interpretable. Specifically, we conducted proteome-wide association studies (PWAS) to identify genetic associations mediated by alterations to protein function. With PWAS, we i

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Lifestyle context

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

Discuss with your doctor

  • personalized skin cancer prevention and screening strategy High

    GWAS evidence supports need for individualized screening protocol based on genetic risk

    Schedule dermatology visit to discuss screening frequency, self-examination techniques, and prevention

Lifestyle

  • unprotected sun exposure High

    Variant carriers show elevated non-melanoma skin cancer risk; UV exposure is primary modifiable risk factor

    Daily SPF 30+ sunscreen, limit midday sun (10am-4pm), wear protective clothing and hats

Screening

  • dermatological skin cancer screening High

    Genetic variant associated with increased non-melanoma skin cancer risk in large GWAS

    Annual skin examination by dermatologist; consider 6-month intervals if significant sun exposure history