Anbei eine Entdeckung, die vielleicht für junge BSDK Patienten mit familiärem Zusammenhang von Interesse sein könnte:

Progress on BRCA2/Fanconi gene mutations in pancreatic cancer
August 2004

Nine years ago, the Kern Laboratory found mutations of a new gene. Soon, this laboratory and others working in other tumor systems found that mutations of the gene were often inherited, raising the risk for pancreatic, ovarian, and breast cancer when an individual inherits one bad copy of the gene. This was the second gene found to cause inherited breast cancer, thus leading to the gene name, BRCA2.

Last year, postdoctoral fellow Michiel van der Heijden of the Kern Laboratory, followed up on that earlier discovery. They knew that BRCA2 was one of the genes that gives rise to a rare syndrome, Fanconi anemia, when two bad copies are inherited by an individual. Fanconi anemia causes skeletal abnormalities and progressive bone marrow failure, and genes other than BRCA2 are responsible for most cases of the syndrome. In each case, one needed to inherit two bad copies in order to develop the syndrome. But what if an individual only inherited one bad copy, a condition that was previously thought to be lacking any association with disease? Was it possible that some of these other Fanconi genes might play a role in pancreatic cancer? Dr. van der Heijden found the answer to be "Yes!" Two of the Fanconi genes, FANCC and FANCG had mutations in a number of pancreatic cancers. Some of these mutations are inherited, meaning that individuals were inheriting a risk for pancreatic cancer. Fanconi anemia gene mutations are found in about 1 in 300 persons in the general population, and in 1 in about 75 Ashkenazi Jews. It remains to be determined how much the risk of cancer increases for such persons, and whether cancers other than pancreatic cancer would be included in the higher risk. Dr. van der Heijden and colleagues had another interesting finding; three of the nine persons whose pancreas cancer had young onset (less than 50 years of age) had such mutations. He perhaps had discovered a fairly common cause of young-onset pancreatic cancer.

At the time, there were no easy tests for the kinds of Fanconi gene mutations now being studied, but such tests may become available in the future. Such testing is likely to be of clinical importance. Cells that are defective in the Fanconi genes are known from other research to be highly sensitive to certain chemicals. In this month's issue of The American Journal of Pathology, Dr. van der Heijden and colleagues report that the Fanconi-deficient pancreatic cancer cells are especially susceptible to the toxic effects of the anticancer drugs mitomycin and cis-platin. If may be possible in the future to recommend individualized therapeutic regimens for patients with these mutations. More research in this exciting new area is underway.