{"entity":{"id":"paper-shindo-germline-sporadic-pancreatic-jco-2017","kind":"paper","name":"Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma","aka":[],"tldr":"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.","summary":"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.","asOf":"2026-09-24","links":[{"label":"Shindo et al., J Clin Oncol 2017: germline mutations in 854 apparently sporadic pancreatic cancers (Johns Hopkins)","url":"https://doi.org/10.1200/JCO.2017.72.3502"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/28767289/"}],"tags":[],"related":["brca-germline"],"cancers":["pancreatic","resectable-pdac","brca-palb2-pdac"],"sections":[],"technologies":["germline-testing"],"targets":["brca","atm","palb2","mlh1","cdkn2a"],"drugs":[],"companies":[],"institutions":["johns-hopkins"],"pathways":[],"terms":["gbrca-mutation","germline-vs-somatic"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["jco"],"dependsOn":[],"notes":[],"journal":"Journal of Clinical Oncology","year":2017,"doi":"10.1200/JCO.2017.72.3502","pmid":"28767289","authors":"Shindo K, Yu J, Suenaga M, et al.","paperType":"observational","findings":["Germline mutation in 33 of 854, 3.9%: BRCA2 12, ATM 10, BRCA1 3, PALB2 2, MLH1 2, CDKN2A 1, TP53 1.","Only 3 of 33 carriers had a family history of pancreatic cancer."],"whatItMeans":"Family-history criteria miss nine in ten carriers, the finding that moved guidelines to offer germline testing to every patient.","caveats":["Resected patients at one centre.","Thirty-two genes only."],"changedPractice":true,"participants":854},"route":"/key-papers/paper-shindo-germline-sporadic-pancreatic-jco-2017/","neighbours":{"biomarker":[{"id":"brca-germline","kind":"biomarker","name":"Germline BRCA1/2 pathogenic variant (gBRCAm)","route":"/biomarkers/brca-germline/"}],"cancer":[{"id":"brca-palb2-pdac","kind":"cancer","name":"BRCA or PALB2-mutant pancreatic ductal adenocarcinoma","route":"/cancers/brca-palb2-pdac/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"resectable-pdac","kind":"cancer","name":"Resectable pancreatic ductal adenocarcinoma","route":"/cancers/resectable-pdac/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"atm","kind":"target","name":"ATM","route":"/targets/atm/"},{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"},{"id":"cdkn2a","kind":"target","name":"CDKN2A","route":"/targets/cdkn2a/"},{"id":"mlh1","kind":"target","name":"MLH1","route":"/targets/mlh1/"},{"id":"palb2","kind":"target","name":"PALB2","route":"/targets/palb2/"}],"institution":[{"id":"johns-hopkins","kind":"institution","name":"Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center","route":"/institutions/johns-hopkins/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"},{"id":"germline-vs-somatic","kind":"term","name":"Germline vs somatic mutations","route":"/terms/germline-vs-somatic/"}],"journal":[{"id":"jco","kind":"journal","name":"Journal of Clinical Oncology","route":"/journals/jco/"}]}}