INK4/ARF germline alterations in pancreatic cancer patients

P. Ghiorzo, L. Pastorino, L. Bonelli, R. Cusano, A. M. Nicora, S. Zupo, P. Queirolo, M. R. Sertoli, V. Pugliese, Giovanni Bianchi-Scarrà

Research output: Contribution to journalArticlepeer-review


Background: Roughly 40% of germinal mutations in melanoma families (MF) affect p16INK4a and p 14 ARF. We investigated the association between INK4/ARF alterations and the occurrence of pancreatic cancer in MF and in sporadic pancreatic cancer (SPC) patients. Patients and methods: Forty-nine MF, 66 SPC cases and 54 controls were enrolled. The INK4/ARF locus was screened. Results: As compared with the general population, the risk of pancreatic cancer (PC) was increased 9.4-fold [95% confidence interval (CI) 2.7-33.4] and 2.2-fold (95% CI 0.8-5.7) in G101W-positive and -negative MF, respectively, while mean ages at onset were 61 and 77 years, respectively. A 1.7 (95% CI 1.06-2.79) increased risk of cancer at any site was observed among first-degree relatives of SPC cases as compared with controls. The G101W founder mutation was detected in 4% of SPC cases but the rate increased to 13% when tumor clustering in either branch of families was taken into account. One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B. Conclusions: The presence of a deletion including exon 1B in two PC patients points to the involvement of p14 ARF in the development of PC and may suggest that the increased risk of PC in MF is caused by impairment of both loci.

Original languageEnglish
Pages (from-to)70-78
Number of pages9
JournalAnnals of Oncology
Issue number1
Publication statusPublished - Jan 2004


  • CDKN2A
  • Familial melanoma
  • G101W mutation
  • Increased risk
  • p14
  • Pancreatic cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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