News and Events

PERK mediates resistance to BRAF inhibition in melanoma with impaired PTEN

29 August 2021

According to this recent study, current findings, along with the previous discovery that the AXL/AKT axis mediates resistance to BRAF inhibition in melanoma with wild-type PTEN, provide new insights toward a strategy for combating BRAF inhibition-acquired resistance in BRAF mutant melanoma with different PTEN statuses.

Exploiting MC1R in skin cancer risk and prevention

29 August 2021

This recent review addresses the clinical implications of the impact of germline melanocortin-1 receptor (MC1R) variants in melanoma and non-melanoma skin cancer risk, together with the additional risk conferred by somatic mutations in other peculiar genes, as well as the role of MC1R screening in skin cancer prevention.

Analysis of interplay between nevi and melanoma predisposition in familial context: Distinction between nevi-related and nevi-resistant familial melanoma

23 August 2021

This review analyzes the complex interplay between nevi and melanoma predisposition in a familial context, distinguishing between nevi-related (cases with a high nevus count and a high polygenic risk score) and nevi-resistant (high/moderate-penetrance variant-carrier cases) familial melanoma. This distinction could better direct future research on genetic factors useful to identify high-risk subjects.

Support of role of ATM as melanoma predisposition gene

23 August 2021

This recent study, describing the largest multicenter melanoma cohort investigated for Ataxia–Telangiectasia Mutated (ATM) germline variants, supports the role of ATM as a melanoma predisposition gene, with loss-of-function (LOF) variants suggesting a moderate-risk.

Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity

23 August 2021

The purpose of this recent study was to examine associations with melanoma by anatomical site for a comprehensive set of risk factors including pigmentary and naevus phenotypes, ultraviolet radiation exposure and polygenic risk. The study found evidence of aetiological heterogeneity for melanoma, supporting the dual pathway hypothesis. These findings enhance understanding of risk factors for melanoma and can guide prevention and skin examination education and practices.

Histological regression in melanoma: impact on sentinel lymph node status and survival

22 August 2021

This study sought to determine whether regression in primary cutaneous melanomas predicted sentinel lymph node (SLN) status and survival outcomes in a large cohort of patients managed at a single centre. Findings indicate a prognostically favorable role of regression in primary cutaneous melanoma. However, in Stage III melanoma patients, regression may be a marker of more aggressive disease.