Genetics of the FANCA gene in familial pancreatic cancer

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Abstract
Lymphocyte DNA was analysed from patients with familial pancreatic cancer enrolled in the National Familial Pancreatic Tumor Registry.15 Patients with pancreatic cancer were selected if they had at least two or more first degree relatives with pancreatic cancer (mean (SD) age of 66.7 (12.3) years, males 50.3%). Variants were analysed in 110 additional patients with familial pancreatic cancer. To determine the carrier frequency of c.2574C>G (p.Ser868Arg), we analysed three control populations: healthy spouses of patients with familial pancreatic cancer (115 samples from spouses with a mean (SD) age of 66.9 (11.3) years, males 43.1%), patients who had undergone cholecystectomy (65 samples matched in age with sporadic cases) for non-malignant disease at Johns Hopkins Hospital, and individuals undergoing routine screening colonoscopy (668 samples) at the Mayo Clinic. The mean age of the colonoscopy controls was similar to our pancreatic cancer population (mean (SD) age of 59.3 (12.3) years, males 52.9%).