Background: Most of large epidemiological studies on melanoma susceptibility have been conducted on fair skinned individuals (US, Australia and Northern Europe), while Southern European populations, characterized by high UV exposure and dark‐skinned individuals, are underrepresented.Objectives: We report a comprehensive pooled analysis of established high‐ and intermediate‐penetrance genetic variants and clinical characteristics of Mediterranean melanoma families from the MelaNostrum Consortium.Methods: Pooled epidemiological, clinical and genetic (CDKN2A, CDK4, ACD, BAP1, POT1, TERT, and TERF2IP and MC1R genes) retrospective data of melanoma families, collected within the MelaNostrum Consortium in Greece, Italy and Spain, were analysed. Univariate methods and multivariate logistic regression models were used to evaluate the association of variants with characteristics of families and of affected and unaffected family members. Subgroup analysis was performed for each country.Results: We included 839 families (1365 affected members and 2123 unaffected individuals). Pathogenic/likely pathogenic CDKN2A variants were identified in 13.8% of families. The strongest predictors of melanoma were ≥2 multiple primary melanoma cases (OR 8.1; 95% CI 3.3–19.7), >3 affected members (OR 2.6; 95% CI 1.3–5.2) and occurrence of pancreatic cancer (OR 4.8; 95% CI 2.4–9.4) in the family (AUC 0.76, 95% CI 0.71–0.82). We observed low frequency variants in POT1 (3.8%), TERF2IP (2.5%), ACD (0.8%) and BAP1 (0.3%). MC1R common variants (≥2 variants and ≥2 RHC variants) were associated with melanoma risk (OR 1.4; 95% CI 1.0–2.0 and OR 4.3; 95% CI 1.2–14.6, respectively).Conclusions: Variants in known high‐penetrance genes explain nearly 20% of melanoma familial aggregation in Mediterranean areas. CDKN2A melanoma predictors were identified with potential clinical relevance for cancer risk assessment.

Introduction Peptide-C ampoules (PC) contain peptides, 10% of vitamin C, hyaluronic acid, and Vichy volcanic mineralizing water. Aims To assess the effectiveness and tolerability of PC. Patients and Methods An observational study conducted in 9 countries in women ≥30 years old with signs of facial skin aging (grade >0 for forehead and/or crow's feet wrinkles and bothered by skin quality). Investigator assessments and subject questionnaires were performed at initial visit and Day 30 after application of PC twice daily for 28 days. Tolerance was assessed throughout the study. Results Effectiveness and safety were analyzed in 1382 and 1742 subjects, respectively. Most subjects (mean age 48.5 ± 8.6 years) had skin phototype II or III (91.7%) and dry or combination skin (63.9%). PC was used as a standalone care or prior to a planned procedure (70%), or after a procedure (30%). Between baseline and Day 30, 63% and 64% of all subjects (N = 1360) had an improvement in forehead wrinkles and crow's feet wrinkles, respectively. Skin hydration improved in 67.3% of subjects. According to investigator and subject assessments, skin quality, skin radiance, skin aging signs, wrinkles, complexion, and skin pores significantly improved by Day 30. Similar results were observed for subgroup analyses when PC was used as standalone skin care or after a procedure. Tolerance of PC was rated as good to very good by 97.7% of subjects. Conclusions Peptide-C ampoules is effective in reducing visible signs of skin aging, and well tolerated, when used alone or as an adjunct to anti-aging procedures.

Approximately 5–10% of melanoma cases occur in a familial context. CDKN2A/CDK4 were the first high...