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Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene
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Through complete sequencing of the protein-coding genes in a patient with familial pancreatic cancer, we identified a germline, truncating mutation in PALB2 that appeared responsible for this patient's predisposition to the disease. Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role of PALB2 as a susceptibility gene for pancreatic cancer. PALB2 mutations have been previously reported in patients with familial breast cancer, and the PALB2 protein is a binding partner for BRCA2. These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease.
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“Pancreatic surveillance is recommended for carriers of germline deleterious variants in cancer susceptibility gene,22–26: BRCA2, ATM, BRCA1, PALB2, CDKN2A, STK11, MLH1 and MSH2.”
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Self-citationPALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
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“Truncating mutations in FANCC and FANCG have been reported in a few cases of sporadic young-onset pancreatic cancer, although their contribution to pancreatic cancer risk is unclear (7-9), whereas truncating mutations in PALB2 have also recently been documented in familial pancreatic cancer kindreds (10).”
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“As a functional partner of BRCA2, PALB2 also plays a crucial role in HR-dependent DNA damage repair (Zhang et al. 2009).”
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The genetic classification of pancreatic neoplasia
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“1%).(27)A European study also detected three truncating PALB2 mutations on FPC families, mostly in individuals with concomitant breast cancer.”
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“includes non-sense mutations, frameshift mutations and loss-offunctionmutations (8), and PALB2 is identified as a susceptibility gene of pancreatic cancer (9), familial breast cancer (10) and ovarian cancer (11).”
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“[43] found that in 96 patients with PDAC, three had truncating mutations in the PALB2 gene, producing a stop codon, which was not present in 1084 healthy controls.”
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Sólyom, S. (2011) · Cited by 7
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“Mutations in the PALB2 gene have been associated with an increased risk of familial pancreatic cancer, with an overall prevalence of 3.1% in a study conducted by Jones et al. and 3.7% in a study by Slater et al. [35,36].”
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“Type II genes are tumor suppressor genes, which have been associated with multiple key signaling pathways and related to cell proliferation and survival, including p53 pathway (TP53), cell cycle pathway (CDKN2A), TGFb pathway (SMAD4, TGFBR1, TGFBR2) and DNA damage response pathway (ATM, BRCA2).(16,17) Several therapeu…”
BackgroundPrecision Medicine and Pancreatic Cancer
George, B. (2021) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2021.06.008 · Cited by 6
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“…several statistically significant associations between protein-truncating variants and early onset cancer risks among relatives, such as ATM -melanoma, PALB2 - pancreas, and PALB2 -prostate, corroborating gene-cancer associations previously reported in case-control or family-based studies (47-49).”
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“Recently, exomic sequencing identified PALB2 as a high-risk PC susceptibility gene [4].”
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“PALB2-Mutationen wurden auch in Familien mit einer Häufung von Pankreaskarzinomen detektiert [15, 16].”
BackgroundGenomics of Prostate Cancer: What Nurses Need to Know
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“In 2009, Jones and colleagues carried out exomic sequencing of PALB2 gene in 96 familial pancreatic cancer (FPC) patients in USA, thus identifying 3 truncating PVs producing different stop codons (31).”
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Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant
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“It has been reported that patients with pancreatic cancer carry rare germline deleterious variants of breast cancer susceptibility genes such as BRCA1, BRCA2, PALB2, and ATM [35].”
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“Although the majority of PDAs are sporadic, roughly 10% are classified as familial pancreatic cancer (FPC).(2) Although different definitions of FPC are found in the literature, a common practice is to define the familial form of PDA as instances in which multiple family members (first-degree relatives) are afflicted…”
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“Known examples are the aforementioned BRCA1 and BRCA2 that are linked to both breast and ovarian cancers [25], or the more recent discovery of PALB2 , linked to breast and pancreatic tumors [26, 27].”
BackgroundRetrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer
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“In addition to BRCA2, PALB2 (FANCN), as well as other Fanconi anemia genes (FANCC and FANCG) [31, 32] have recently been recognized as pancreatic susceptibility genes that closely interact with BRCA2 and contribute to pancreatic tumorigenesis [33].”
BackgroundDivide and Conquer: Progress in the Molecular Stratification of Cancer
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“Deleterious mutations in this gene have been associated with up to 3% of pancreatic cancers.(40,41) ATM is a serine/threonine kinase involved in double‐strand break repair and is commonly associated with ataxia‐telangiectasia.”
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“Consistent with the notion of inherited mutations in PALB2 conferring a “BRCA2-like” cancer syndrome, familial pancreatic cancer is also associated with PALB2 mutation.(11,12) Data linking inherited PALB2 mutations to familial breast cancer have continued to accumulate, with a more recent large study providing evidenc…”
BackgroundWang, A. R., Everett, J. N., Chun, J., Cen, C., Simeone, D. M., & Schnabel, F. R. (2021) · Scientific Reports · doi:10.1038/s41598-021-91971-0 · Cited by 5
A novel germline mutation of the PALB gene in a young Yakut breast cancer woman
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“S. Jones et al. (2009) and E.P. Slater et al. (2010) found an overall prevalence of 3.1 % of PALB2 mutation in patients with familial pancreatic cancer [18, 19].”
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Understanding familial risk of pancreatic ductal adenocarcinoma
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Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum
Katabathina, V. S., Buddha, S., Rajebi, H., Shah, J. N., Morani, A., Lubner, M. G., Dasyam, A. K., Nazarullah, A. N., Menias, C. O., & Prasad, S. R. (2021) · Radiographics · doi:10.1148/rg.2021200164 · Cited by 6
RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma
Xie, F., Ding, D., Lin, C., Cunningham, D., Wright, M. J., Javed, A. A., Azad, N. A., Lee, V., Donehower, R. C., Jesus‐Acosta, A. D., et al. (2022) · JCO Precision Oncology · doi:10.1200/po.21.00404 · Cited by 4
Self-citationBoeck, S. H., Mehraein, Y., Ormanns, S., Krüger, S., Westphalen, C. B., Haas, M., Jung, A., Kirchner, T., & Heinemann, V. (2016) · Annals of Oncology · doi:10.1093/annonc/mdw564 · Cited by 4
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“Biallelic inactivating germline variants in PALB2 lead to Fanconi anemia and predispose to childhood cancer (Fanconi anemia type N) [11, 12], whereas germline monoallelic variants in PALB2 are associated with hereditary predisposition to pancreatic cancer [13], female and male breast cancer [4, 14–17], and likely ovar…”
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“The median age at diagnosis of cases was 60 years (about 8–10 years younger than the median age of sporadic PC for Europeans), though 22 % of the affected patients were younger than 50 years [18].”
BackgroundJanatová, M., Borecká, M., Soukupová, J., Kleiblová, P., Stříbrná, J., Vočka, M., Zemánková, P., Panczak, A., Veselá, K., Souček, P., et al. (2016) · Klinicka onkologie · doi:10.14735/amko2016s31 · Cited by 4
Lessons learned from a complete remission of advanced metastatic pancreatic ductal adenocarcinoma.
Mathew, B. M., Daas, A. Y., Centeno, B. A., Hoffe, S. E., Valone, T., Patel, M., & Springett, G. M. (2012) · PubMed · Cited by 4
Genetisch determinierte Pankreaserkrankungen
Rosendahl, J., & Mössner, J. (2012) · Der Internist · doi:10.1007/s00108-011-2987-0 · Cited by 4
Koehler, U., Glaremin, T., Cassel, W., Feuring, M., Pomykaj, T., Schäfer, H., & Stellwaag, M. (1993) · PubMed · Cited by 4
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Self-citationMolecular Biomarkers for the Diagnosis and Prognostication of Pancreatic Ductal Adenocarcinoma
Sun, J. X., Awad, M. A., Hwang, J., & Villano, A. M. (2025) · Journal of Personalized Medicine · doi:10.3390/jpm15060236 · Cited by 6
Antwi, S. O., Rabe, K. G., Carlson, E. E., Sicotte, H., Bamlet, W. R., Mills, K. C., Konikoff, T. D., Cerhan, J. R., Couch, F. J., Larson, N. B., et al. (2026) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2026.03.043 · Cited by 3
Evaluating coverage of exons by HapMap SNPs
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The Early Detection of Pancreatic Cancer: Whom and How?
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“가족성 췌 장암 170가족을 조사한 연구에서 ATM 유전자 변이가 6가족 에서 발견되었고,(21) 가족성 췌장암 100가족을 조사한 다른 연 구에서는 PALB2 유전자 변이가 4가족에서 발견되었다.(22) 현”
Klinik und Genetik des familiären Brust- und Eierstockkrebses
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Pancreatic cancer: current understanding of molecular and genetic aetiologies
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Diagnosis and Management of Hereditary Pancreatic Cancer
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Medical oncology and pancreatic cancer: what the radiologist needs to know
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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).”
BackgroundBouras, A., Lafaye, C., Léoné, M., Kherraf, Z., Martin-Denavit, T., Fert-Ferrer, S., Calender, A., & Boutry-Kryza, N. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23020667 · Cited by 4
Endoplasmic stress-inducing variants in carboxyl ester lipase and pancreatic cancer risk
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“Mutations in PALB2, which encodes proteins necessary for the BRCA2-PALB2-Fanconi DNA repair pathway, and BRCA2 have also been implicated as a risk factor for PC [12,13].”
BackgroundUpper 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
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Metadata
- Authors
- Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., & Klein, A. P.
- Affiliations
- Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.
- Howard Hughes Medical Institute (US)
- Corresponding author
- Eshleman, James R.
- Goggins, Michael
- Klein, Alison P.
- ORCID
- Venue
- Science
- Published
- 2009-04-10
- Volume
- 324
- Issue
- 5924
- Pages
- 217-217
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC2684332
- OpenAlex
- W2140872369
- Cited by
- 826
- References
- 10
- Citations by year
- 2026: 13 · 2025: 7 · 2024: 18 · 2023: 19 · 2022: 66 · 2021: 43 · 2020: 34 · 2019: 53 · 2018: 48 · 2017: 50 · 2016: 50 · 2015: 69 · 2014: 81 · 2013: 53 · 2012: 67
- FWCI
- 42.27
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5r01ca121113-15)
- National Cancer Institute (R01CA-97075, CA123483, R01CA123483, R01-CA121113, R37CA043460, P50CA102701, R01CA097075, P50CA062924, R37CA057345, CA 62924)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- PALB2, pancreatic cancer, hereditary cancer predisposition, germline mutations, truncating mutations, familial pancreatic cancer, BRCA2, exome sequencing
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Breast Neoplasms, Female, Humans, Male, Nuclear Proteins, Pancreatic Neoplasms, Pedigree, Sequence Deletion, Sequence Analysis, DNA, Germ-Line Mutation, Codon, Terminator, Genetic Predisposition to Disease, Tumor Suppressor Proteins
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