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Research Paper
The Genetics of FANCC and FANCG in Familial Pancreatic Cancer
Carmelle D. Rogers, Michiel S. van der Heijden, Kieran Brune, Charles J. Yeo, Ralph H. Hruban, Scott E. Kern, and Michael Goggins
volume 3 | issue 2
feb 2004Pages: 167-169
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Patients with Fanconi anemia (FA) display a wide variety of defects including bone marrow failure and a high risk of developing cancer. Multiple Fanconi genes exist whose proteins form a complex that along with BRCA1 is important for the translocalization of FANCD2 to nuclear foci 1. With BRCA2 and RAD51, this complex is thought to have a role in the repair of DNA double strand breaks. The genetic basis of another form of Fanconi anemia- FANCD1, was recently identified as the result of biallelic inactivating mutations of the BRCA2 gene 2.
Since carriers of germline BRCA2 gene mutations have an increased risk of developing pancreatic cancer, the FA pathway has been investigated as a tumor suppressor pathway in pancreatic cancer. Recently van der Heijden et al. identified FANCC and FANCG gene mutations in patients with young-onset pancreatic cancer 3. Here, we determined the role of germline FA gene mutations in kindred in which several family members had pancreatic cancer. Sequence analysis of 38 individuals with familial pancreatic cancer enrolled in the National Familial Pancreatic Tumor Registry (NFPTR) revealed previously identified polymorphisms within two exons and one intron of FANCC, and in three introns of FANCG. In addition, an unaffected relative from one family contained an exonic polymorphism within the FANCC gene. These and published data suggest the possibility that although germline and somatic mutations in FANCC and FANCG may contribute to the occurrence of pancreatic cancers, the pancreatic cancers that arise do so in an apparent sporadic fashion rather than with a phenotype of familial pancreatic cancer. FANCC and FANCG mutations may have low penetrance for the pancreatic cancer phenotype.
Summary: Sequencing of the FANCC and FANCG genes from 38 familial pancreatic cancer patients revealed polymorphisms within the introns and exons of these genes. These sequence variations do not appear to contribute to familial pancreatic cancer.
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDFIf the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.