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The Genetics of Pancreatic Cancer

-- The Discoveries

 

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BRCA2

This is a breast cancer gene, right?  Yes and no.  The laboratory used RDA to identify a homozygous deletion in a pancreatic cancer, and this deletion happened to include the location of the BRCA2 gene that was being sought as a cause of familial breast cancer.  Aided by the localization available from this pancreatic cancer, the BRCA2 was then found by other investigators.  The laboratory then searched for mutations of BRCA2 and found them in nearly 7% of sporadic pancreatic cancers.  It seems that breast, ovarian, and pancreatic cancers can all occur at higher rates in families that inherit a mutation in the BRCA2 gene.  Some of these families nonetheless have very few cases of cancer, and without the benefit of genetic studies, the pattern of cancer will not appear obviously familial, but will seem to be sporadic.