# Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma

Source: https://onco.cc/key-papers/paper-shindo-germline-sporadic-pancreatic-jco-2017/  
OnCo record `paper-shindo-germline-sporadic-pancreatic-jco-2017` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Journal of Clinical Oncology
- Year: 2017
- DOI: 10.1200/JCO.2017.72.3502
- Authors: Shindo K, Yu J, Suenaga M, et al.
- 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.
- What it means: 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.

## Sources

- Shindo et al., J Clin Oncol 2017: germline mutations in 854 apparently sporadic pancreatic cancers (Johns Hopkins): https://doi.org/10.1200/JCO.2017.72.3502
- PubMed: https://pubmed.ncbi.nlm.nih.gov/28767289/

## Connected records

- biomarkers: [Germline BRCA1/2 pathogenic variant (gBRCAm)](https://onco.cc/biomarkers/brca-germline/)
- cancers: [BRCA or PALB2-mutant pancreatic ductal adenocarcinoma](https://onco.cc/cancers/brca-palb2-pdac/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Resectable pancreatic ductal adenocarcinoma](https://onco.cc/cancers/resectable-pdac/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [ATM](https://onco.cc/targets/atm/), [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/), [CDKN2A](https://onco.cc/targets/cdkn2a/), [MLH1](https://onco.cc/targets/mlh1/), [PALB2](https://onco.cc/targets/palb2/)
- institutions: [Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center](https://onco.cc/institutions/johns-hopkins/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/), [Germline vs somatic mutations](https://onco.cc/terms/germline-vs-somatic/)
- journals: [Journal of Clinical Oncology](https://onco.cc/journals/jco/)

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