Publications by authors named "G Bianchi Scarra"

CDKN2A/p16INK4a is an essential tumor suppressor gene that controls cell cycle progression and replicative senescence. It is also the main melanoma susceptibility gene. Here we report that p16INK4a 5'UTR mRNA acts as a cellular Internal Ribosome Entry Site (IRES).

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Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.

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Telomere length has been associated with risk of many cancers, but results are inconsistent. Seven single nucleotide polymorphisms (SNPs) previously associated with mean leukocyte telomere length were either genotyped or well-imputed in 11108 case patients and 13933 control patients from Europe, Israel, the United States and Australia, four of the seven SNPs reached a P value under .05 (two-sided).

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Article Synopsis
  • CDKN2A is the most common gene linked to a high risk of melanoma, but many genetic causes in melanoma families are still unknown.
  • Through whole-exome sequencing, a rare mutation in the POT1 gene was found in several melanoma-prone families in Italy, which seems to affect telomere maintenance.
  • The study suggests that POT1 variants occur at a frequency similar to CDKN2A mutations and play a significant role in familial melanoma susceptibility across different populations.
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