ArticleCancer discovery2016
Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.
Open access · bronzeAbstract read
In one paragraph
Article in Cancer discovery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 219 papers, 5 of them syntheses that pooled it.
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219citing papers in PubMed, 5 pooled it
12.1field-weighted citation impact, top 1% of its field
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Who cites it
219 citing papers in PubMed, 5 syntheses or guidelines pooled it, 363 citations in OpenAlex.
- The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis.PloS one · 2024Pooled it
- Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.International journal of cancer · 2022Pooled it
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.Pancreas · 2018Pooled it
- Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017.Cancer letters · 2021Trial
- Mutations in the pancreatic secretory enzymesProceedings of the National Academy of Sciences of the United States of America · 2018Trial
- First-in-human testing of a mutant KRAS vaccine for pancreatic cancer interception in high-risk cohorts.Cancer discovery · 2026Article
- Review
- Pancreatic cancer.Nature reviews. Disease primers · 2026Review
- Detection of mutated KRAS, TP53, CDKN2A, and SMAD4 in tumor cell-free DNA of Brazilian pancreatic adenocarcinoma patients using next-generation sequencing.Scientific reports · 2026Article
- Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.Journal of gastroenterology and hepatology · 2026Review
- Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.United European gastroenterology journal · 2026Article
- Pancreatic cancer: molecular pathogenesis and emerging therapeutic strategies.Signal transduction and targeted therapy · 2026Review
- NF2 loss malignantly transforms human pancreatic acinar cells and enhances cell fitness under environmental stress.The Journal of clinical investigation · 2026Article
- PRMT5 inhibition triggers functional ATM deficiency and sensitizes pancreatic cancer to CHK1 blockade.Frontiers in cell and developmental biology · 2026Article
- Targeted nanoencapsulation of tunicamycin reduces toxicity while improving its therapeutic effectiveness in pancreatic cancer cells.Molecular therapy. Oncology · 2025Article
- DNA Damage and Repair in Pancreatic Cancer-The Latest Findings.International journal of molecular sciences · 2025Review
- Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.JAMA oncology · 2025Article
- DR1 activates histone gene expression to maintain pancreatic cancer cell survival through the ATAC complex.Cancer gene therapy · 2025Article
159 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
45 authors at 2 institutions in 1 country.
Nicholas J RobertsDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Ludwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. vogelbe@jhmi.edu nrobert8@jhmi.edu kinzlke@jhmi.edu rhruban@jhmi.edu aklein1@jhmi.edu.
Alexis L NorrisDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Gloria M PetersenDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
Melissa L BondyDan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas.
Randall BrandDepartment of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
Steven GallingerSamuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
Robert C KurtzDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
Sara H OlsonDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Anil K RustgiDivision of Gastroenterology, Departments of Medicine and Genetics, Pancreatic Cancer Translational Center of Excellence, Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Ann G SchwartzKarmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan.
Elena StoffelDepartment of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
Sapna SyngalPopulation Sciences Division, Dana-Farber Cancer Institute, and Gastroenterology Division, Brigham and Women's Hospital, Boston, Massachusetts.
George ZogopoulosThe Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Goodman Cancer Research Centre, McGill University, Montreal, Quebec, Canada.
Syed Z AliDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Jennifer AxilbundDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Kari G ChaffeeDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
Yun-Ching ChenDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland.
Michele L CoteKarmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan.
Erica J ChildsDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.
Christopher DouvilleDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland.
Fernando S GoesDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Joseph M HermanDepartment of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Christine Iacobuzio-DonahueMemorial Sloan Kettering Cancer Center, New York, New York.
Melissa KramerStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
Alvin Makohon-MooreDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Richard W McCombieStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
K Wyatt McMahonLudwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Noushin NiknafsDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland.
Jennifer ParlaStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York. inGenious Targeting Laboratory, Ronkonkoma, New York.
Mehdi PiroozniaDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland.
James B PotashDepartment of Psychiatry, University of Iowa, Iowa City, Iowa.
Andrew D RhimDivision of Gastroenterology, Departments of Medicine and Genetics, Pancreatic Cancer Translational Center of Excellence, Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Department of Medicine, University of Michigan, Ann Arbor, Michigan.
Alyssa L SmithThe Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Goodman Cancer Research Centre, McGill University, Montreal, Quebec, Canada.
Yuxuan WangLudwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Christopher L WolfgangDepartment of Surgery, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Laura D WoodDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Peter P ZandiDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Michael GogginsDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Medicine, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Rachel KarchinDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland.
James R EshlemanDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Nickolas PapadopoulosLudwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Kenneth W KinzlerLudwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. vogelbe@jhmi.edu nrobert8@jhmi.edu kinzlke@jhmi.edu rhruban@jhmi.edu aklein1@jhmi.edu.
Bert VogelsteinLudwig Center and the Howard Hughes Medical Institute, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. vogelbe@jhmi.edu nrobert8@jhmi.edu kinzlke@jhmi.edu rhruban@jhmi.edu aklein1@jhmi.edu.
Ralph H HrubanDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. vogelbe@jhmi.edu nrobert8@jhmi.edu kinzlke@jhmi.edu rhruban@jhmi.edu aklein1@jhmi.edu.
Alison P KleinDepartment of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland. Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland. vogelbe@jhmi.edu nrobert8@jhmi.edu kinzlke@jhmi.edu rhruban@jhmi.edu aklein1@jhmi.edu.
Mayo Clinic · USMemorial Sloan Kettering Cancer Center · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MTranslational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MSingle-Cell Biology Shared ResourceP30CA045508 · NCI · COLD SPRING HARBOR LABORATORY · PI John Edward Moses · 1987 to 2026
$118.9MTumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI LENNON, ANNE MARIE · 1993 to 2022
$54.6MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007309 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COX, ANDREA L · 1985 to 2019
$43.2MTissue CoreP50CA102701 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M. · 2004 to 2018
$32.7MPancreatic Cancer Genetic Epidemiology Consortium (PACGENE)R01CA097075 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M. · 2002 to 2012
$15.8MCenter for Clinical and Translational Sciences (CCTS)UL1TR000371 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2012 to 2016
$13.4MTraining Program in Cellular and Molecular MedicineT32GM008752 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI RAO, RAJINI · 2000 to 2019
$11.7MBIOMEDICAL ENGINEERING TRAINING PROGRAMT32GM007057 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI KANOLD, PATRICK O, KARCHIN, RACHEL · 1985 to 2023
$10.4MThe Prrx-1 transcription factor in pancreatic ductal biologyR01DK060694 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI CHANDWANI, ROHIT, RUSTGI, ANIL K · 2002 to 2025
$8.3MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR000371NCI NIH HHS K99 CA190889NCI NIH HHS K99-CA190889NCI NIH HHS P30 CA006973NCI NIH HHS P30-CA006973NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA045508NCI NIH HHS P50 CA062924NCI NIH HHS P50-CA062924NCI NIH HHS P50 CA102701NCI NIH HHS P50-CA102701NCI NIH HHS R00 CA190889NCI NIH HHS R01 CA057345NCI NIH HHS R01 CA097075NCI NIH HHS R01 CA154823NCI NIH HHS R01-CA154823NCI NIH HHS R01 CA177857NCI NIH HHS R01-CA57345NCI NIH HHS R01-CA97075NCI NIH HHS R37 CA043460NCI NIH HHS R37 CA057345NIDDK NIH HHS R01 DK060694NIDDK NIH HHS R01-DK060694NIGMS NIH HHS T32 GM007057NIGMS NIH HHS T32 GM007309NIGMS NIH HHS T32 GM008752NIMH NIH HHS K01 MH093809NIMH NIH HHS K01-MH093809NIMH NIH HHS R01 MH087979NIMH NIH HHS R01-MH087979
Abstract
unlabelledPancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is unknown. To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with familial pancreatic cancer and the tumor exomes of 39 familial pancreatic adenocarcinomas. Our analyses support the role of previously identified familial pancreatic cancer susceptibility genes such as BRCA2, CDKN2A, and ATM, and identify novel candidate genes harboring rare, deleterious germline variants for further characterization. We also show how somatic point mutations that occur during hematopoiesis can affect the interpretation of genome-wide studies of hereditary traits. Our observations have important implications for the etiology of pancreatic cancer and for the identification of susceptibility genes in other common cancer types. SIGNIFICANCE: The genetic basis of disease susceptibility in the majority of patients with familial pancreatic cancer is unknown. We whole genome sequenced 638 patients with familial pancreatic cancer and demonstrate that the genetic underpinning of inherited pancreatic cancer is highly heterogeneous. This has significant implications for the management of patients with familial pancreatic cancer.
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationAtaxia Telangiectasia Mutated ProteinsBRCA2 ProteinCarcinomaCyclin-Dependent Kinase Inhibitor p16HumansPancreatic NeoplasmsPoint MutationSequence Analysis, DNAAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA2 ProteinBRCA2 protein, humanCyclin-Dependent Kinase Inhibitor p16
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