Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

This study investigated the occurrence of pancreatic cancer in 172 familial melanoma families with a pathogenic CDKN2A variant. The CDKN2A gene encodes two distinct proteins (p16INK4a and p14ARF) and pathogenic variants can affect one or both. Individuals harbouring variants affecting p16INK4a are considered to be at increased risk for pancreatic cancer, but this study observed no pancreatic cancer in the families with variants affecting only p14ARF. Therefore, individuals with variants affecting only p14ARF should not be considered at increased risk for pancreatic cancer, and should not be included in pancreatic cancer surveillance programmes. (By Dr. Kasper Overbeek, https://jmg.bmj.com/content/early/2020/06/01/jmedgenet-2019-106562 )

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