Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma

Christopher A. Moskaluk, Ralph H. Hruban, Mieke Schutte, Amanda S. Lietman, Thomas Christopher Smyrk, Lavonne Fusaro, Ramon Fusaro, Jane Lynch, Charles J. Yeo, Charles E. Jackson, Henry T. Lynch, Scott E. Kern

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

A first-degree relative with pancreatic cancer is found in 5% to 10% of patients with pancreatic carcinomas, suggesting an inherited predisposition for this neoplasm. The recently identified DPC4 tumor suppressor gene is a strong candidate for the gene responsible for the familial form of pancreatic carcinoma. DPC4 was identified in a consensus area of homozygous deletion in pancreatic carcinomas, and it is biallelically inactivated in approximately 50% of sporadic pancreatic carcinomas. The coding sequence of this gene is 1660 nucleotides in length, covering 11 exons. We describe optimized primers and conditions used in polymerase chain reaction and cycle sequencing of the entire DPC4 coding sequence of 25 individuals (eight with pancreatic carcinoma) from 11 kindreds with a familial aggregation of pancreatic carcinoma. No mutations in the coding sequences of the DPC4 gene were found; hence, it appears that germline mutations in DPC4 cannot account for many of the familial aggregations of pancreatic carcinoma.

Original languageEnglish (US)
Pages (from-to)85-90
Number of pages6
JournalDiagnostic Molecular Pathology
Volume6
Issue number2
DOIs
StatePublished - Apr 1997
Externally publishedYes

Fingerprint

Genes
Germ-Line Mutation
Tumor Suppressor Genes
Pancreatic Neoplasms
Exons
Nucleotides
Polymerase Chain Reaction
Mutation
Pancreatic Carcinoma
Familial Pancreatic carcinoma
Neoplasms

Keywords

  • Cancer families
  • DPC4
  • Germline mutation
  • Pancreatic cancer

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Moskaluk, C. A., Hruban, R. H., Schutte, M., Lietman, A. S., Smyrk, T. C., Fusaro, L., ... Kern, S. E. (1997). Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma. Diagnostic Molecular Pathology, 6(2), 85-90. https://doi.org/10.1097/00019606-199704000-00003

Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma. / Moskaluk, Christopher A.; Hruban, Ralph H.; Schutte, Mieke; Lietman, Amanda S.; Smyrk, Thomas Christopher; Fusaro, Lavonne; Fusaro, Ramon; Lynch, Jane; Yeo, Charles J.; Jackson, Charles E.; Lynch, Henry T.; Kern, Scott E.

In: Diagnostic Molecular Pathology, Vol. 6, No. 2, 04.1997, p. 85-90.

Research output: Contribution to journalArticle

Moskaluk, CA, Hruban, RH, Schutte, M, Lietman, AS, Smyrk, TC, Fusaro, L, Fusaro, R, Lynch, J, Yeo, CJ, Jackson, CE, Lynch, HT & Kern, SE 1997, 'Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma', Diagnostic Molecular Pathology, vol. 6, no. 2, pp. 85-90. https://doi.org/10.1097/00019606-199704000-00003
Moskaluk, Christopher A. ; Hruban, Ralph H. ; Schutte, Mieke ; Lietman, Amanda S. ; Smyrk, Thomas Christopher ; Fusaro, Lavonne ; Fusaro, Ramon ; Lynch, Jane ; Yeo, Charles J. ; Jackson, Charles E. ; Lynch, Henry T. ; Kern, Scott E. / Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma. In: Diagnostic Molecular Pathology. 1997 ; Vol. 6, No. 2. pp. 85-90.
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AB - A first-degree relative with pancreatic cancer is found in 5% to 10% of patients with pancreatic carcinomas, suggesting an inherited predisposition for this neoplasm. The recently identified DPC4 tumor suppressor gene is a strong candidate for the gene responsible for the familial form of pancreatic carcinoma. DPC4 was identified in a consensus area of homozygous deletion in pancreatic carcinomas, and it is biallelically inactivated in approximately 50% of sporadic pancreatic carcinomas. The coding sequence of this gene is 1660 nucleotides in length, covering 11 exons. We describe optimized primers and conditions used in polymerase chain reaction and cycle sequencing of the entire DPC4 coding sequence of 25 individuals (eight with pancreatic carcinoma) from 11 kindreds with a familial aggregation of pancreatic carcinoma. No mutations in the coding sequences of the DPC4 gene were found; hence, it appears that germline mutations in DPC4 cannot account for many of the familial aggregations of pancreatic carcinoma.

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