[Paper-level Aggregated] PMCID: PMC7074098

Evidence Type(s): Prognostic, Oncogenic

Justification: Prognostic: The text indicates that BAP1 amplification is associated with significantly better survival (HR = 0.56, p = 0.005), suggesting a prognostic role for this variant in the context of overall survival in CM. Oncogenic: The presence of missense mutations in BAP1, including E30K, I643T, P629S, R417M, S143N, L416F, and R59W, suggests potential oncogenic significance, although their individual impacts on tumor behavior are described as having unknown significance.

Gene→Variant (gene-first): BAP1(8314):E30K BAP1(8314):I643T BAP1(8314):L416F BAP1(8314):P629S BAP1(8314):R417M BAP1(8314):R59W PMEL(6490):S143N

Genes: BAP1(8314) PMEL(6490)

Variants: E30K I643T L416F P629S R417M R59W S143N

[Paragraph-level] PMCID: PMC7074098 Section: RESULTS PassageIndex: 9

Evidence Type(s): Prognostic

Justification: Prognostic: The passage discusses the correlation of BAP1 mutations and copy number variations with overall survival in cutaneous melanoma (CM), indicating that certain alterations are associated with better survival outcomes.

Gene→Variant (gene-first): 8314:E30K 8314:I643T 8314:L416F 8314:P629S 8314:R417M 8314:R59W 6490:S143N

Genes: 8314 6490

Variants: E30K I643T L416F P629S R417M R59W S143N