rs112661203 - HMCN2
Magnitude 4.5 · 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
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Lifestyle
-
enhanced sun protection and UV avoidance Moderate
rs112661203 carriers have increased melanoma risk; UV protection is primary modifiable risk factor for melanoma prevention
Apply broad-spectrum SPF 30+ sunscreen daily; avoid peak UV hours (10am-4pm); consider protective clothing
Screening
-
annual dermatological skin examination Moderate
rs112661203 associated with increased melanoma risk in GWAS study; early detection and treatment substantially improve survival outcomes
Schedule annual full-body skin examination with dermatologist