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The 2018 Mayo Clinic study of 3,030 patients that found an inherited fault in one of six genes in 5.5 percent of all pancreatic cancers, including 5.2 percent of patients with no family history, which is why every patient is now offered a germline test.
Hu and colleagues sequenced 21 cancer predisposition genes in 3,030 adults with pancreatic cancer enrolled in a Mayo Clinic registry between 2000 and 2016 (43.2 percent female, 95.6 percent non-Hispanic white, mean age 65.3) and compared mutation frequencies with 123,136 gnomAD and 53,105 ExAC reference controls. Significant associations were found for CDKN2A (0.3 percent of cases, odds ratio 12.33), TP53 (0.2 percent, 6.70), MLH1 (0.13 percent, 6.66), BRCA2 (1.9 percent, 6.20), ATM (2.3 percent, 5.71) and BRCA1 (0.6 percent, 2.58). Mutations in the six genes were found in 5.5 percent of all patients, 7.9 percent of those with a family history of pancreatic cancer and 5.2 percent of those without.
Family history misses most carriers, so the NCCN and ASCO guidelines moved to testing every patient; each carrier found is a family that can be offered surveillance and a patient who may be eligible for platinum and PARP inhibition.
Shares Surveillance for every germline carrier found by universal testing, inside a registry rather than a research exception, The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival, Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium, High-risk pancreatic surveillance (CAPS / PRECEDE) and the tag pancreatic-evidence.
Shares POLO: maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer, DNA damage response & homologous recombination, CDKN2A, Germline BRCA mutation (gBRCA) and the tag pancreatic-evidence.
Shares POLO: maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer, Germline BRCA mutation (gBRCA), Germline vs somatic mutations, Olaparib and the tag pancreatic-evidence.
Shares High-risk pancreatic surveillance (CAPS / PRECEDE), Mayo Clinic, Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question, Pancreatic ductal adenocarcinoma and the tag pancreatic-evidence.
Shares DNA damage response & homologous recombination, CDKN2A, Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question, TP53 and the tag pancreatic-evidence.
Shares JAMA, Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question, Pancreatic ductal adenocarcinoma and the tag pancreatic-evidence.
Shares Mayo Clinic, Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question, Pancreatic ductal adenocarcinoma and the tag pancreatic-evidence.
Shares JAMA, Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question, Pancreatic ductal adenocarcinoma and the tag pancreatic-evidence.