The genetics of pancreatic cancer

Sarah M. Cowgill, Peter Muscarella

Research output: Contribution to journalReview article

113 Citations (Scopus)

Abstract

The genetic basis for invasive and preoneoplastic neoplasms of the exocrine and endocrine pancreas has been the subject of a number of investigations in recent years. The purpose of this paper was to briefly review and summarize the pertinent findings. High frequency changes associated with pancreatic adenocarcinomas include mutations of the k-ras oncogene, and inactivating alterations of the p53, p16, and DPC4 tumor suppressor genes. Hereditary syndromes that have a known predisposition for pancreatic adenocarcinoma development include hereditary pancreatitis, familial atypical multiple mole melanoma (FAMM) syndrome, Peutz-Jeghers syndrome, familial breast cancer (BRCA-2), hereditary nonpolyposis colorectal cancer syndrome (HNPCC), and Li-Fraumeni syndrome. The underlying genetic defects have been identified and are currently being studied. Germline mutations of the men-1 gene are responsible for the MEN-1 syndrome, known to be associated with pancreatic endocrine tumors. It appears that somatic mutations of the gene are present in at least a subset of sporadic tumors. In addition, alterations in the Rb/p16 pathway appear to be commonly associated with pancreatic endocrine tumors. Further characterization of pancreatic tumors will result in a better understanding of the cellular pathways involved in pancreatic tumorigenesis and holds promise to identify targets for novel diagnostic and therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)279-286
Number of pages8
JournalAmerican Journal of Surgery
Volume186
Issue number3
DOIs
StatePublished - Sep 2003
Externally publishedYes

Fingerprint

Pancreatic Neoplasms
Neoplasms
Adenocarcinoma
Li-Fraumeni Syndrome
Dysplastic Nevus Syndrome
Peutz-Jeghers Syndrome
Multiple Endocrine Neoplasia Type 1
Hereditary Nonpolyposis Colorectal Neoplasms
Exocrine Pancreas
Mutation
ras Genes
Germ-Line Mutation
Tumor Suppressor Genes
Islets of Langerhans
Genes
Carcinogenesis
Therapeutics

Keywords

  • DPC4
  • K-ras
  • MEN-1
  • p16
  • p53
  • Pancreatic cancer
  • Pancreatic endocrine tumors

ASJC Scopus subject areas

  • Surgery

Cite this

The genetics of pancreatic cancer. / Cowgill, Sarah M.; Muscarella, Peter.

In: American Journal of Surgery, Vol. 186, No. 3, 09.2003, p. 279-286.

Research output: Contribution to journalReview article

Cowgill, Sarah M. ; Muscarella, Peter. / The genetics of pancreatic cancer. In: American Journal of Surgery. 2003 ; Vol. 186, No. 3. pp. 279-286.
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