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Original Article
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Volume 333:975-977 October 12, 1995 Number 15
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A Familial Syndrome of Pancreatic Cancer and Melanoma with a Mutation in the CDKN2 Tumor-Suppressor Gene
Alison J. Whelan, M.D., Detlef Bartsch, M.D., and Paul J. Goodfellow, Ph.D.

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The distinguishing characteristics of familial cancer syndromes are an inherited predisposition to one or more characteristic types of tumors, early age at onset, and multiple synchronous or asynchronous tumors. Recently, the genes responsible for a number of inherited cancers have been identified.1,2,3,4,5

We describe a kindred with an increased risk of pancreatic cancers, melanomas, and possibly additional types of tumors. We provide strong evidence linking the predisposition to cancer in this kindred to an inherited mutation in the cyclin-dependent–kinase inhibitor 2 (CDKN2) tumor-suppressor gene. The results of our study of this family suggest that disruption of the function . . . [Full Text of this Article]

Case Reports

Methods

Preparation of Genomic DNA and Characterization of CDKN2 Sequences

DNA-Marker Genotyping Studies

Results

Discussion


Source Information

From the Departments of Medicine and Pediatrics (A.J.W.) and Surgery (D.B., P.J.G.), Washington University School of Medicine, St. Louis, and the Department of Surgery, Philipps University, Marburg, Germany (D.B.).

Address reprint requests to Dr. Goodfellow at Box 8109, 660 S. Euclid, St. Louis, MO 63110.

References


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