Implementing polygenic risk scores in skin cancer: a step towards personalized risk prediction

Soura, Efthymia; Stratigos, Alexander

doi:10.1111/bjd.18324

Cited by 2 publications

(1 citation statement)

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“…Sunburn, occurring most often in the early stages of life (mostly before the age of 20), is associated with a higher risk of development of melanoma in a lifetime (Dennis et al 2008 ; Green et al 2011 ). Several polygenic traits have been correlated with skin cancer risk (Soura and Stratigos 2019 ; Farré et al 2023 ), but to date, any causal role of childhood sunburn remains poorly understood.…”

Section: Introductionmentioning

confidence: 99%

Childhood sunburn and risk of melanoma and non-melanoma skin cancer: a Mendelian randomization study

Li,

Wu,

Cao

2023

Environ Sci Pollut Res

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Previous evidence has suggested that childhood sunburn could be a risk factor for cutaneous malignant melanoma (MM) and non-melanoma skin cancer (NMSC). However, existing observational studies could not reveal the causal associations genetically. This study aimed to investigate whether there was a genetic causal relationship between childhood sunburn and skin cancers. Univariable Mendelian randomization (MR) and Causal Analysis Using Summary Effect analysis was carried out for causal estimates and evaluation for the horizontal pleiotropy. Multivariable MR and the mediation effects analysis were used to test whether the causal associations were mediated by potential confounders. A suggestively significant causal association between childhood sunburn and MM was indicated (OR = 4.74; 95% CI: 1.31–17.19; p = 1.79E-02). Genetically predicted childhood sunburn was significantly associated with increased risk of overall melanoma in situ (MIS) (OR = 4.02; 95% CI: 2.00–8.08; p = 9.40E-05), MIS of face (OR = 18.28; 95% CI: 5.28–63.35; p = 4.59E-06), and MIS of trunk (OR = 7.05; 95% CI: 2.06–24.13; p = 1.88E-03). Similar trends were found for childhood sunburn and NMSC (OR = 8.16; 95% CI: 6.07–10.99; p = 1.53E-20), including both basal cell carcinoma (BCC) (OR = 3.76; 95% CI:2.96–4.77; p = 2.19E-08) and squamous cell carcinoma (SCC) (OR = 7.44; 95% CI: 5.09–10.87; p = 2.19E-08). After adjustment for hair and skin color, facial ageing, vitamin D levels, body mass index, alcohol consumption, and smoking status, childhood sunburn showed an independent association with MIS, MIS of face, MIS of trunk, as well as NMSC, including both BCC and SCC. Mediation analysis showed no significant mediation effect. This study demonstrated a causal relationship between childhood sunburn and the risk of both MM and NMSC, which suggested that enhanced screening and prevention for childhood sunburn could contribute to the early detection and decreased risk of MM and NMSC.

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Section: Introductionmentioning

confidence: 99%