Evidence map›Paper›PMID 30716324›Full record

ArticleGastroenterology2019

Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms.

Michael Skaro, Neha Nanda, Christian Gauthier, Matthäus Felsenstein, Zhengdong Jiang, Miaozhen Qiu, Koji Shindo, Jun Yu, Danielle Hutchings, Ammar A Javed and 9 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.6field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 62 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Next-Generation Sequencing: An Advanced Diagnostic Tool for Detection of Pancreatic Disease/Disorder.JGH open : an open access journal of gastroenterology and hepatology · 2024
    Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Clinical and Molecular Attributes and Evaluation of Pancreatic Cystic Neoplasm.Biochimica et biophysica acta. Reviews on cancer · 2023
    Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Pathology of intraductal papillary mucinous neoplasms.Langenbeck's archives of surgery · 2021
    Review
  17. Review
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 1 institution in 2 countries.

Michael SkaroDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Neha NandaDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Christian GauthierDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Matthäus FelsensteinDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Zhengdong JiangDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Miaozhen QiuDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Medical Oncology, Sun Yat-Sen University Cancer Center; State Key Laboratory of Oncology in South China, Guangzhou, China; Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
Koji ShindoDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Jun YuThe Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Danielle HutchingsDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Ammar A JavedDepartment of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Ross BeckmanDepartment of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Jin HeDepartment of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Christopher L WolfgangDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Elizabeth ThompsonDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Ralph H HrubanDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Alison P KleinDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Michael GogginsDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Laura D WoodDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Nicholas J RobertsDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: nrobert8@jhmi.edu.
Johns Hopkins University · US

Funding

Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI THOMPSON, ELIZABETH D · 1993 to 2022
$54.6M
Integrative Analyses to Identify Pancreatic Cancer Susceptibility GenesR00CA190889 · NCI · JOHNS HOPKINS UNIVERSITY · PI ROBERTS, NICHOLAS JASON · 2017 to 2019
$747k
NCI NIH HHS P50 CA062924NCI NIH HHS R00 CA190889
6 · The paper itself

Abstract

BACKGROUND &

aimsMany patients with pancreatic adenocarcinoma carry germline mutations associated with increased risk of cancer. It is not clear whether patients with intraductal papillary mucinous neoplasms (IPMNs), which are precursors to some pancreatic cancers, also carry these mutations. We assessed the prevalence of germline mutations associated with cancer risk in patients with histologically confirmed IPMN.

methodsWe obtained nontumor tissue samples from 315 patients with surgically resected IPMNs from 1997 through 2017, and we sequenced 94 genes with variants associated with cancer risk. Mutations associated with increased risk of cancer were identified and compared with individuals from the Exome Aggregation Consortium.

resultsWe identified 23 patients with a germline mutation associated with cancer risk (7.3%; 95% confidence interval, 4.9-10.8). Nine patients had a germline mutation associated with pancreatic cancer susceptibility (2.9%; 95% confidence interval, 1.4-5.4). More patients with IPMNs carried germline mutations in ATM (P < .0001), PTCH1 (P < .0001), and SUFU (P < .0001) compared with controls. Patients with IPMNs and germline mutations associated with pancreatic cancer were more like to have concurrent invasive pancreatic carcinoma compared with patients with IPMNs without these mutations (P < .0320).

conclusionsIn sequence analyses of 315 patients with surgically resected IPMNs, we found that almost 3% to carry mutations associated with pancreatic cancer risk. More patients with IPMNs and germline mutations associated with pancreatic cancer had concurrent invasive pancreatic carcinoma compared with patients with IPMNs without these mutations. Genetic analysis of patients with IPMNs might identify those at greatest risk for cancer.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsCarcinoma, Pancreatic DuctalCase-Control StudiesFemaleHumansMaleMiddle AgedNeoplasm GradingNeoplasms, Multiple PrimaryPancreatic Intraductal NeoplasmsPancreatic NeoplasmsAtaxia Telangiectasia Mutated ProteinsATM protein, humanPatched-1 ReceptorPTCH1 protein, humanRepressor ProteinsSUFU protein, humanCancerGeneticsPancreasPredisposition

Identifiers

PMID30716324
PMCPMC6475492
OpenAlexW2913463828

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.