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Sequencing normal tissue from 854 people who had pancreatic cancer surgery at Johns Hopkins found an inherited cancer-gene mutation in 3.9%, and only three of those 33 patients had a family history of the disease.
Thirty-two genes were sequenced in normal tissue DNA from 854 patients with pancreatic ductal adenocarcinoma, 288 with other pancreatic and periampullary neoplasms and 51 with non-neoplastic disease resected at Johns Hopkins (2000 to 2015). Thirty-three (3.9%) pancreatic cancer patients had a deleterious germline mutation, 31 (3.5%) in known susceptibility genes: BRCA2 (12), ATM (10), BRCA1 (3), PALB2 (2), MLH1 (2), CDKN2A (1), TP53 (1), plus BUB1B and BUB3. Carriers were younger (60.8 versus 65.1 years). Only 3 of 33 reported a family history of pancreatic cancer. Five (1.7%) of 288 with other periampullary neoplasms also carried a mutation.
Family-history criteria miss nine in ten carriers, the finding that moved guidelines to offer germline testing to every patient.
Shares ATM, PALB2, Germline BRCA1/2 pathogenic variant (gBRCAm), CDKN2A.
Shares ATM, PALB2, Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA).
Shares MLH1, ATM, Germline BRCA1/2 pathogenic variant (gBRCAm), CDKN2A.
Shares PALB2, Germline BRCA1/2 pathogenic variant (gBRCAm), Germline vs somatic mutations, BRCA or PALB2-mutant pancreatic ductal adenocarcinoma.
Shares ATM, CDKN2A, Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, BRCA1 / BRCA2 (HRD).
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares ATM, PALB2, CDKN2A, Germline BRCA mutation (gBRCA).
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), Germline vs somatic mutations, BRCA1 / BRCA2 (HRD).