Cited by 492Pancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancerBRCA gene mutations in cancer

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ATM Mutations in Patients with Hereditary Pancreatic Cancer

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Roberts, Nicholas J., Jiao, Yuchen, Yu, Jun, Kopelovich, Levy, Petersen, Gloria M., Bondy, Melissa L., Gallinger, Steven, Schwartz, Ann G., Syngal, Sapna, Cote, Michele L., Axilbund, Jennifer, Schulick, Richard, Ali, Syed Z., Eshleman, James R., Velculescu, Victor E., Goggins, Michael, Vogelstein, Bert, Papadopoulos, Nickolas, Hruban, Ralph H., Kinzler, Kenneth W., Klein, Alison P.·2012·Cancer Discovery

DOI 10.1158/2159-8290.cd-11-0194PMC PMC3676748

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Abstract

Pancreatic cancers are the fourth most-common cause of cancer-related deaths in the Western world, with >200,000 cases reported in 2010. Although up to 10% of these cases occur in familial patterns, the hereditary basis for predisposition in the vast majority of affected families is unknown. We used next-generation sequencing, including whole-genome and whole-exome analyses, and identified heterozygous, constitutional, ataxia telangiectasia mutated (ATM) gene mutations in 2 kindreds with familial pancreatic cancer. Mutations segregated with disease in both kindreds and tumor analysis demonstrated LOH of the wild-type allele. By using sequence analysis of an additional 166 familial pancreatic cancer probands, we identified 4 additional patients with deleterious mutations in the ATM gene, whereas we identified no deleterious mutations in 190 spouse controls (P = 0.046). When we considered only the mostly severely affected families with 3 or more pancreatic cancer cases, 4 deleterious mutations were found in 87 families (P = 0.009). Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition. Significance: The genes responsible for the majority of cases of familial pancreatic ductal adenocarcinoma are unknown. We here identify ATM as a predisposition gene for pancreatic ductal adenocarcinoma. Our results have important implications for the management of patients in affected families and illustrate the power of genome-wide sequencing to identify the basis of familial cancer syndromes. Cancer Discovery; 2(1): 41–6. ©2011 AACR. Read the Commentary on this article by Bakker and de Winter, p. 14 This article is highlighted in the In This Issue feature, p. 1

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MicroRNA-based strategies to overcome the immunotherapy barrier in pancreatic ductal adenocarcinoma
徐慧文, Wang, Q., Cao, R., Qiu, Z., Liu, Y., Hu, J., Zheng, G., & Cheng, C. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1744566
Pancreatic cancer: Recent epidemiological trends and risk determinants
Hudgi, A., Woodcock, A., Mirza, A., Okiye, P., Kemple, B., Sifuentes, H., & Sridhar, S. (2026) · World Journal of Gastroenterology · doi:10.3748/wjg.119810 · Cited by 1
Genetic polymorphisms of DNA repair pathways in pancreatic cancer progression and treatment
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DNA damage response inhibitors in pancreatic cancer: progress and challenges
Wu, Y., Li, W., & Wu, M. (2026) · Frontiers in Oncology · doi:10.3389/fonc.2026.1838580
“Germline or somatic mutations/deletions in ATM are found in approximately 5 – 10% of pancreatic cancer cases (38, 39).”
Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications
Marafioti, M., Patruno, M., Musarra, M., Silvestris, N., Funes, J. A. P., Omero, F., Sapuppo, E., Cianci, V., Calabrò, M., Irrera, N., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27146404
“Roberts and colleagues first reported the association between germline ATM mutations and HPC [102].”
Hereditary Pancreatic Cancer.
Levinson, E. J., Hilfrank, K., Rustgi, S., & Kastrinos, F. (2026) · Gastroenterology Clinics of North America · doi:10.1016/j.gtc.2026.07.002
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Dataset related to article "Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis"
Buono, A. D., Poliani, L., Greco, L., Bianchi, P., Barile, M., Giatti, V., Bonifacio, C., Carrara, S., Malesci, A., & Laghi, L. (2023) · Zenodo (CERN European Organization for Nuclear Research) · doi:10.5281/zenodo.10039427

Authors: Roberts, N. J., Jiao, Y., Yu, J., Kopelovich, L., Petersen, G. M., Bondy, M. L., Gallinger, S., Schwartz, A. G., Syngal, S., Cote, M. L., Axilbund, J., Schulick, R., Ali, S. Z., Eshleman, J. R., Velculescu, V. E., Goggins, M., Vogelstein, B., Papadopoulos, N., Hruban, R. H., Kinzler, K. W., & Klein, A. P.
Affiliations: Brigham and Women's Hospital (US)
Authors' Affiliations: 1Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center; Departments of 2Medicine, 3Pathology, 4Surgery, and 5Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions; 6Department of Epidemiology, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, Maryland; 7Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland; 8Division of Epidemiology, Mayo Clinic, Rochester, Minnesota; 9Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas; 10Hepatobiliary/Pancreatic Surgical Oncology Program, University Health Network, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada; 11Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan; 12Population Sciences Division, Dana-Farber Cancer Institute, and Gastroenterology Division, Brigham and Women's Hospital, Boston, Massachusetts
Mayo Clinic (US)
Corresponding author: Hruban, Ralph H.
Kinzler, Kenneth W.
Klein, Alison P.
ORCID: Roberts, Nicholas J.
Jiao, Yuchen
Yu, Jun
Petersen, Gloria M.
Bondy, Melissa L.
Schwartz, Ann G.
Syngal, Sapna
Schulick, Richard
Ali, Syed Z.
Eshleman, James R.
Velculescu, Victor E.
Goggins, Michael
Vogelstein, Bert
Papadopoulos, Nickolas
Hruban, Ralph H.
Kinzler, Kenneth W.
Klein, Alison P.
Venue: Cancer Discovery
Publisher: American Association for Cancer Research (AACR)
Published: 2012-01-01
Volume: 2
Issue: 1
Pages: 41-46
ISSN: 2159-8274 (ISSN-L)
2159-8290
DOI: 10.1158/2159-8290.cd-11-0194
PMC: PMC3676748
OpenAlex: W2146542392
Cited by: 491
References: 30
Citations by year: 2026: 13 · 2025: 11 · 2024: 22 · 2023: 27 · 2022: 30 · 2021: 49 · 2020: 36 · 2019: 43 · 2018: 42 · 2017: 38 · 2016: 49 · 2015: 41 · 2014: 38 · 2013: 31 · 2012: 20
FWCI: 14.03
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Cancer Discovery (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (n01pc35145-19-0-7, n01cn43302-6-0-1, 5r01ca121113-15)
National Cancer Institute (N01 CN043302, R01CA-97075, CA123483, R01CA123483, R01-CA121113, N01 PC035145, CA-121113, N01 PC 35145, CA057345, P50CA102701, R01CA057345, R01CA097075, N01-CN 43302, P50CA062924, R37CA057345, CA 62924)
Topics: Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords: ATM gene, hereditary pancreatic cancer, pancreatic ductal adenocarcinoma, hereditary cancer predisposition, loss of heterozygosity, constitutional mutation, cancer susceptibility genes, hereditary cancer
MeSH terms: Ataxia Telangiectasia, DNA-Binding Proteins, Humans, Mutation, Pancreatic Neoplasms, Pedigree, Protein Serine-Threonine Kinases, Cell Cycle Proteins, Genetic Predisposition to Disease, Carcinoma, Pancreatic Ductal, Tumor Suppressor Proteins, Genome-Wide Association Study, Exome, Ataxia Telangiectasia Mutated Proteins

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ATM Mutations in Patients with Hereditary Pancreatic Cancer

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