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Showing content from https://www.ncbi.nlm.nih.gov/pubmed/28767289 below:

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2. Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma Koji Shindo¹, Jun Yu¹, Masaya Suenaga¹, Shahriar Fesharakizadeh¹, Christy Cho¹, Anne Macgregor-Das¹, Abdulrehman Siddiqui¹, P Dane Witmer¹, Koji Tamura¹, Tae Jun Song¹, Jose Alejandro Navarro Almario¹, Aaron Brant¹, Michael Borges¹, Madeline Ford¹, Thomas Barkley¹, Jin He¹, Matthew J Weiss¹, Christopher L Wolfgang¹, Nicholas J Roberts¹, Ralph H Hruban¹, Alison P Klein¹, Michael Goggins¹

Affiliations

Affiliation

¹ All authors: The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University, Baltimore, MD.

PMID: 28767289
PMCID: PMC5648172
DOI: 10.1200/JCO.2017.72.3502

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Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

Koji Shindo et al. J Clin Oncol. 2017.

. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2. Authors Koji Shindo¹, Jun Yu¹, Masaya Suenaga¹, Shahriar Fesharakizadeh¹, Christy Cho¹, Anne Macgregor-Das¹, Abdulrehman Siddiqui¹, P Dane Witmer¹, Koji Tamura¹, Tae Jun Song¹, Jose Alejandro Navarro Almario¹, Aaron Brant¹, Michael Borges¹, Madeline Ford¹, Thomas Barkley¹, Jin He¹, Matthew J Weiss¹, Christopher L Wolfgang¹, Nicholas J Roberts¹, Ralph H Hruban¹, Alison P Klein¹, Michael Goggins¹ Affiliation

¹ All authors: The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University, Baltimore, MD.

PMID: 28767289
PMCID: PMC5648172
DOI: 10.1200/JCO.2017.72.3502

Item in Clipboard

Abstract

Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer. Methods To define the prevalence of these germline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic ductal adenocarcinoma, 288 patients with other pancreatic and periampullary neoplasms, and 51 patients with non-neoplastic diseases who underwent pancreatic resection at Johns Hopkins Hospital between 2000 and 2015. Results Thirty-three (3.9%; 95% CI, 3.0% to 5.8%) of 854 patients with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (12 patients), ATM (10 patients), BRCA1 (3 patients), PALB2 (2 patients), MLH1 (2 patients), CDKN2A (1 patient), and TP53 (1 patient). Patients with these germline mutations were younger than those without (mean ± SD, 60.8 ± 10.6 v 65.1 ± 10.5 years; P = .03). Deleterious germline mutations were also found in BUB1B (1) and BUB3 (1). Only three of these 33 patients had reported a family history of pancreatic cancer, and most did not have a cancer family history to suggest an inherited cancer syndrome. Five (1.7%) of 288 patients with other periampullary neoplasms also had a deleterious germline mutation. Conclusion Germline mutations in pancreatic cancer susceptibility genes are commonly identified in patients with pancreatic cancer without a significant family history of cancer. These deleterious pancreatic cancer susceptibility gene mutations, some of which are therapeutically targetable, will be missed if current family history guidelines are the main criteria used to determine the appropriateness of gene testing.

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