Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Kasper Alexander OverbeekMar Dm Rodríguez-GirondoAnja WagnerNienke van der StoepPeter C van den AkkerJan C OosterwijkTheo A van OsLizet E van der KolkHans F A VasenFrederik J HesDjuna L CahenMarco J BrunoThomas P PotjerPublished in: Journal of medical genetics (2020)
Our results support the notion that pathogenic CDKN2A variants affecting the p16INK4a protein, including c.67G>C, are associated with increased PDAC risk and carriers of such variants should be offered pancreatic cancer surveillance. There is no clinical evidence that impairment of only the p14ARF protein leads to an increased PDAC risk.