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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Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients
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Background
DNA and RNA analyses in detection of genetic predisposition to cancer
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Background
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Background
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“Moreover, germline heterozygous ATM mutations were found in the families with hereditary pancreatic cancer (Roberts et al. 2012), which further links DNA damages to pancreatic cancers since ATM is a core kinase in DNA damage response network and impairment of ATM could result in the failure of DNA repair (Matsuoka et…”
Background
Familial Pancreatic Cancer: Challenging Diagnostic Approach and Therapeutic Management
Mastoraki, A. T., Chatzimavridou-Grigoriadou, V., Chatzipetrou, V., Mastoraki, S., Papanikolaou, I. S., Danias, N., Smyrniotis, V. E., & Arkadopoulos, N. F. (2014) · Journal of Gastrointestinal Cancer · doi:10.1007/s12029-014-9609-8 · Cited by 9
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“One ATM mutation was found in a familial pancreatic indication, and an increased risk of pancreatic cancer has been attributed to ATM.13 F IGURE 3 Genes with a pathogenic or probably pathogenic mutation identified in digestive cases.”
Background
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer
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“Carriers may also have an increased risk to develop pancreatic cancer (RR = 2.41) (Roberts et al., 2012; van Os et al., 2016).”
BackgroundInfluential
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“BRCA2, BRCA1, PALB2 and ATM, all involved in homologous recombination, are among other predisposing genes.(7,8) Otherwise, PRSS1 and SPINK1 genes cause repeated episodes of acute pancreatitis and chronic pancreatitis with a very high risk of Schwartz Mathias and Korenbaum Clément are contributed equally to this work.”
Background
Development of a Novel Protocol for Germline Testing in Pancreatic Cancer
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“As with patients with BRCA1/2 mutations, patients with ATM mutations also have an increased risk for pancreatic cancer [17].”
Background
Germline Variants in DNA Damage Repair Genes: An Emerging Role in the Era of Precision Medicine in Pancreatic Adenocarcinoma
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“PALB2-Mutationen wurden auch in Familien mit einer Häufung von Pankreaskarzinomen detektiert [15, 16].”
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Genomics of Prostate Cancer: What Nurses Need to Know
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“Mutations in genes involved in HRR pathway have been identified in pancreatic cancer, such as BRCA1 , BRCA2 , ATM , and PALB2 [10–13], providing a strong rationale for the clinical investigation of PARP inhibitors for the treatment of pancreatic cancer.”
BackgroundResultInfluential
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“Whole-exome sequencing omics approaches have recently identified PALB2 and ATM mutations in families with multiple cases of pancreas cancer [11, 12] .”
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Macklin‐Mantia, S. K., Hines, S. L., & Kasi, P. M. (2020) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-020-00148-9 · Cited by 5
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“Pathogenic germline ATM variants have been reported in 2.4–8.6% of patients with FPC and 1.2–2.0% of patients with SPC [47, 50, 51, 53, 57, 67, 88–90].”
InfluentialSelf-citation
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Self-citation
Somatic loss of ATM is a late event in pancreatic tumorigenesis
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“ATM is a pancreatic cancer susceptibility gene frequently identified by germline genetic testing in patients with PDAC and their relatives [12,14].”
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Association of germline ATM mutations and survival in pancreatic cancer
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“Mutations in CDKN2A, TP53, BRCA1, BRCA2, ATM, PALB2, MLH1, among others, are significantly associated with pancreatic cancer risk (3-7), and approximately 4% to 10% of patients with pancreatic adenocarcinoma have pathogenic germline alterations (8).”
Background
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk
Yu, Y., Chang, K., Chen, J., Bohlender, R. J., Fowler, J., Zhang, D., Huang, M., Chang, P., Li, Y., Wong, J., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100078 · Cited by 3
Endoplasmic stress-inducing variants in carboxyl ester lipase and pancreatic cancer risk
Kawamoto, M., Yoshida, T., Tamura, K., Dbouk, M. H., Canto, M. I., Burkhart, R. A., He, J. P., Roberts, N. J., Klein, A. P., & Goggins, M. (2022) · Pancreatology · doi:10.1016/j.pan.2022.08.004 · Cited by 3
Self-citation
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients
Baz, M., Gondran-Teiller, V., Paillerets, B. B., Cabaret, O., Fievet, A., Dimaria, M., Goldbarg, V., Colas, C., Bonnet-Dupeyron, M. N., Tinat, J., et al. (2022) · Digestive Diseases and Sciences · doi:10.1007/s10620-022-07733-z · Cited by 3
Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome
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“Several predisposing genes of breast and ovarian cancer such as ATM, BRCA1, BRCA2, PALB2 are found to increase risk of pancreatic cancer [12-14].”
Background
Upper Gastrointestinal Cancers and the Role of Genetic Testing
Harrold, E. C., & Stadler, Z. K. (2024) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2024.01.006 · Cited by 3
Pancreatic Cancer Screening among High-risk Individuals
Turner, K. M., & Patel, S. H. (2024) · Surgical Clinics of North America · doi:10.1016/j.suc.2024.03.002 · Cited by 3
ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion
Arts, H. H., Lynch, L., Grafodatskaya, D., Eng, B., Malloy, L., Duck, J., White, R., Woodside, C., Bell, K., Zbuk, K. M., et al. (2019) · Cancer Genetics · doi:10.1016/j.cancergen.2019.10.003 · Cited by 3
Familial pancreatic cancer: who should be considered for genetic testing?
Kartal, K., Guan, Z., Tang, R., Griffin, M., Wang, Y., Braun, D., Klein, A. P., & Hughes, K. S. (2021) · Irish Journal of Medical Science (1971 -) · doi:10.1007/s11845-021-02572-9 · Cited by 3
Self-citation
Pancreatic Cancer
Barreto, S. G. (2018) · Springer eBooks · doi:10.1007/978-981-10-8755-4_16 · Cited by 3
Poly Adenosine Diphosphate-Ribose Polymerase (PARP) Inhibitors in Pancreatic Cancer
Sunkara, T., Bandaru, S. S., Boyilla, R., Kunadharaju, R., Kukkadapu, P., & Chennamadhavuni, A. (2022) · Cureus · doi:10.7759/cureus.22575 · Cited by 4
“4% of familial pancreatic cancer patients [16] and 3-4% in a study with a population unselected for family history of cancer [9,17].”
Background
Germline sequence analysis of RABL3 in a large series of pancreatic ductal adenocarcinoma patients reveals no evidence of deleterious variants
Roberts, N. J., Grant, R. C., Gallinger, S., Klein, A. P., & the Familial Pancreatic Cancer Genome Sequencing Project (2021) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22947 · Cited by 3
Self-citation
Genetic risk of cholangiocarcinoma is linked to the autophagy gene ATG7Preprint
Greer, S., Ogmundsdottir, M. H., Chen, J., Lau, B. T., Delacruz, R. G. C., Sandoval, I. T., Kristjánsdóttir, S., Jones, D. A., Haslem, D. S., Romero, R., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/836767 · Cited by 3
Liver and Pancreas
Dagli, M. L., Chaible, L. M., & Steiger, K. (2021) · Wiley eBooks · doi:10.1002/9781119624608.ch15 · Cited by 3
Neoplasms of the Exocrine Pancreas
Wolff, R. A., Li, D., Maitra, A., Tsai, S., Koay, E. J., & Evans, D. B. (2022) · Wiley eBooks · doi:10.1002/9781119000822.hfcm094.pub2 · Cited by 3
Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers
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Homologous Recombination and Alternative End-Joining Repair Pathways are Important Determinants of Radiosensitivity to Proton Radiation Therapy
Hessenow, R. K., Matschke, J., Mladenov, E., Lin, X., Heinzelmann, F., Esser, J., Afshar, S. E., Li, F., Soni, A., Möllers, C., et al. (2026) · International Journal of Radiation Oncology*Biology*Physics · doi:10.1016/j.ijrobp.2026.02.234 · Cited by 2
Managing Patient with Mutations in PALB2, CHEK2, or ATM
Francisco Acevedo, C., Deng, Z., Armengol, V. D., & Hughes, K. S. (2018) · Current Breast Cancer Reports · doi:10.1007/s12609-018-0269-8 · Cited by 2
The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers
Podralska, M., Dzikiewicz‐Krawczyk, A., Mosor, M., Żurawek, M., Iżykowska, K., Słomski, R., Rydzanicz, M., Gabryel, P., Dyszkiewicz, W., & Ziółkowska‐Suchanek, I. (2020) · Archives of Medical Science · doi:10.5114/aoms.2020.94155 · Cited by 2
“Moreover, it was also shown that mutations in the ATM gene predispose to hereditary pancreatic cancer [3, 4], whereas loss-of-function mutations were identified in patients with prostate cancer [5].”
Background
Prospects of PARP Inhibitors in Treatment of BRCA-Mutated Pancreatic Cancer: a Literature Review
Меньшиков, К. В., Султанбаев, А. В., Мусин, Ш. И., Измайлов, А. А., Menshikovа, I. A., Султанбаева, Н. И., Popova, E. V., & Хамматова, Л. А. (2022) · Creative Surgery and Oncology · doi:10.24060/2076-3093-2022-12-1-48-55 · Cited by 2
Pancreatic adenocarcinoma and aging: understanding the menace for better management
Zhou, T., Yan, J., Hao, J., & Yu, J. Q. (2023) · Journal of Pancreatology · doi:10.1097/jp9.0000000000000133 · Cited by 2
Self-citation
Searching for significant reactions and subprocesses in models of biological systems based on Petri nets
Gutowska, K., & Formanowicz, P. (2023) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2023.107729 · Cited by 2
The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration
Karloski, E., Dudley, B., Diergaarde, B. B., Blanco, A. M., Everett, J. N., Levinson, E., Rangarajan, T., Stanich, P. P., Childers, K. K., Brown, S. A., et al. (2024) · Cancer · doi:10.1002/cncr.35383 · Cited by 2
Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk
Ni, Z., Kundu, P., McKean, D. F., Wheeler, W., Albanes, D., Andreotti, G., Antwi, S. O., Arslan, A. A., Bamlet, W. R., Freeman, L. E. B., et al. (2024) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-24-0096 · Cited by 2
Self-citation
Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing
Lebedeva, A., Михайлович, В. Е., Kavun, A., Belova, E., Grigoreva, T. V., Orlov, P., Subbotovskaya, A., Shipunov, M., Mashkov, O., Bilalov, F. S., et al. (2024) · World Journal of Oncology · doi:10.14740/wjon1820 · Cited by 2
Pancreatic cancer: early detection, diagnosis, and screening
Suzuki, R., Ohira, H., Irisawa, A., & Bhutani, M. S. (2012) · Clinical Journal of Gastroenterology · doi:10.1007/s12328-012-0327-0 · Cited by 2
Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene
Mahon, S. M. (2016) · Oncology nursing forum · doi:10.1188/16.onf.114-117 · Cited by 2
“, 2005) The risk of pancreatic cancer is also increased (Roberts et al., 2012).”
Background
Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing
Reap, L. E., Ahsan, S., & Saleh, M. (2018) · Clinical Breast Cancer · doi:10.1016/j.clbc.2018.03.015 · Cited by 2
“Case control studies have demonstrated that women who are carriers of the ATM mutation may have an improved response to radiation therapy but have an increased risk of contralateral breast cancer following radiation therapy at conventional dosing.(27,28) However a meta-analysis that included 5 studies concluded that t…”
Background
Deciphering Genetic Alterations of Taiwanese Patients with Pancreatic Adenocarcinoma through Targeted Sequencing
Huang, C., Liu, C., Huang, C.-J., Hsu, Y., Lien, H.-H., Wong, J.-U., Tai, F.-C., Ku, W., Hung, C., Lin, J.-T., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031579 · Cited by 2
Pancreatic Cancer Screening: A Narrative Review
Meziani, J., Fuhler, G. M., Bruno, M. J., Cahen, D. L., & Overbeek, K. A. (2024) · Techniques and Innovations in Gastrointestinal Endoscopy · doi:10.1016/j.tige.2024.08.001 · Cited by 2
Targeted Sequencing Strategies in Cancer Research
Lee, H., Lau, B. T., & Ji, H. P. (2013) · Springer eBooks · doi:10.1007/978-1-4614-7645-0_7 · Cited by 2
Familial Pancreatic Cancer
Klein, A. P. (2018) · doi:10.1002/9781119188421.ch91 · Cited by 2
Self-citation
Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer
Rosner, G., Scapa, E. F., Ziv, T., Gluck, N., & Ben‐Yehoyada, M. (2023) · Clinical and Translational Gastroenterology · doi:10.14309/ctg.0000000000000668 · Cited by 2
Extra-pancreatic malignancies in patients with intraductal papillary mucinous neoplasms
Orzan, R. I., & Khoury, T. (2025) · Expert Review of Gastroenterology & Hepatology · doi:10.1080/17474124.2025.2584021 · Cited by 1
“Somatic mutations in ATM, detected in approximately 17% of cases, may impair DNA repair and promote genomic instability [48,49].”
Characteristics of KRAS WT pancreatic adenocarcinomas: results of a large French multicentric cohort
Trystram, N., Cros, J. F., Blons, H., Garinet, S., Nicolle, R., Corre, D. L., Zhao, S. L., Biagi, J. J., Harlé, A., Conroy, T., et al. (2025) · Therapeutic Advances in Medical Oncology · doi:10.1177/17588359251339939 · Cited by 1
Single nucleotide polymorphisms and risk factors predictive of pancreatic adenocarcinoma
Martinez, E., Silvy, F., Lombardo, D., & Mas, E. (2016) · Cancer Cell & Microenvironment · doi:10.14800/ccm.1231 · Cited by 1
Clinical Genetic Testing in Gastroenterology
Goodman, R. P., & Chung, D. C. (2016) · Clinical and Translational Gastroenterology · doi:10.1038/ctg.2016.23 · Cited by 1
“multiple-mole melanoma syndrome (due to mutations in CDKN2A(23)), Peutz–Jeghers syndrome,(24) Lynch syndrome,(25) or Ataxia-Telangiectasia (ATM).(26) It should also be noted that”
Background
The Next Generation Sequencing and Applications in Clinical Research
Duan, J., Fu, X., Zhang, J., Wang, Y., & Deng, H. (2016) · Translational bioinformatics · doi:10.1007/978-94-017-7543-4_4 · Cited by 1
Pathology and Molecular Pathology of Pancreatic Cancer
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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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