09Mar 2025
High Prevalence of Pathogenic Germline Variants in Mucosal Melanoma

High Prevalence of Pathogenic Germline Variants in Mucosal Melanoma

The study investigated pathogenic germline variants in mucosal melanoma (MM) patients enrolled in the Gross Family Melanoma Registry. The results show a high prevalence of germline mutations (50%) associated with melanoma and general cancer susceptibility, with CHEK2 and APC variants identified in 12.5% of cases each. The findings suggest that germline-driven cancer susceptibility plays a significant role in MM, surpassing the 15% prevalence found in cutaneous melanoma.

  • #oncology

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