rs117975938 - RN7SL50P - THEMIS3P
Magnitude 2.8 · 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 lung cancer risk assessment Moderate
GWAS variant associated with 1.469-fold increased lung cancer risk; discussion with physician can guide screening strategy
discuss with physician whether to initiate low-dose CT screening based on age, smoking history, and family history
Lifestyle
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tobacco smoke exposure Moderate
genetic risk variant increases lung cancer susceptibility; smoking is the primary modifiable risk factor
avoid active smoking; minimize passive smoking exposure