rs12377116 - SMC2 - TOPORSLP
Magnitude 2.2 · 1 study on file
Reported associations
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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.
Lifestyle
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rigorous daily sun protection Moderate
Variant increases NMSC risk; limiting UV exposure is the primary modifiable risk factor for NMSC
daily SPF 30+ sunscreen, protective clothing, avoid peak sun hours
- GWAS_CATALOG:34290314
Screening
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annual dermatology screening for skin cancer Moderate
SMC2 variant rs12377116 is associated with increased non-melanoma skin cancer risk (1.067 effect size)
annual full-body skin examination by board-certified dermatologist
- GWAS_CATALOG:34290314