rs1123102 - RN7SL680P - HSPE1P1
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.
Discuss with your doctor
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personalized skin cancer screening based on genetic risk Moderate
Discussion with dermatologist can establish appropriate screening frequency given increased non-melanoma skin cancer risk
Lifestyle
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daily broad-spectrum sun protection Moderate
increased non-melanoma skin cancer risk associated with rs1123102 suggests enhanced UV protection may reduce absolute risk
SPF 30+ broad-spectrum daily sunscreen, protective clothing, avoid peak UV hours
Screening
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annual skin cancer screening with dermatology examination Moderate
GWAS shows increased non-melanoma skin cancer risk associated with rs1123102; early detection significantly improves outcomes
annual full-body skin examination with dermatologist