The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
PALB2 mutations in European familial pancreatic cancer families
Abstract
Recently, PALB2 was reported to be a new pancreatic cancer susceptibility gene as determined by exomic sequencing, as truncating PALB2 mutations were identified in 3 of 96 American patients with familial pancreatic cancer (FPC). Representing the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) and the German National Case Collection for Familial Pancreatic Cancer (FaPaCa), we evaluated whether truncating mutations could also be detected in European FPC families. We have directly sequenced the 13 exons of the PALB2 gene in affected index patients of 81 FPC families. An index patient was defined as the first medically identified patient, stimulating investigation of other members of the family to discover a possible genetic factor. None of these patients carried a BRCA2 mutation. We identified three (3.7%) truncating PALB2 mutations, each producing different stop codons: R414X, 508-9delAG and 3116delA. Interestingly, each of these three families also had a history of breast cancer. Therefore, PALB2 mutations might be causative for FPC in a small subset of European families, especially in those with an additional occurrence of breast cancer.
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In the citing paper
“germline mutations in specific genes are associated with developing the condition.26–28”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
In the citing paper
“When the causative mutation is known,26 it segregates with the disease.”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
In the citing paper
“germline mutations in specific genes are associated with developing the condition.26–28”
From Early detection of pancreatic cancer (2020) · cites this paper as [27]
In the citing paper
“families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.26,27,29,30”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
In the citing paper
“families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.26,27,29,30”
From Early detection of pancreatic cancer (2020) · cites this paper as [27]
Citations
Cites
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026
Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene
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., et al. (2009) · Science · doi:10.1126/science.1171202 · Cited by 826 · cited 2×
“, where three of four FPC families in their report also had cases of breast cancer (8), and Tischkowitz et al.”
BackgroundPALB2 is an integral component of the BRCA complex required for homologous recombination repair
Sy, S. M.-H., Huen, M. S. Y., & Chen, J. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811159106 · Cited by 643
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1947 · Cited by 642
Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study
Canto, M. I., Goggins, M., Hruban, R. H., Petersen, G. M., Giardiello, F. M., Yeo, C., Fishman, E. K., Brune, K., Axilbund, J., Griffin, C., et al. (2006) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2006.02.005 · Cited by 524
BRCA2 germline mutations in familial pancreatic carcinoma
Hahn, S. A., Greenhalf, B., Ellis, I., Sina-Frey, M., Rieder, H., Korte, B., Gerdes, B., Kress, R., Ziegler, A., Raeburn, J. A., et al. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/95.3.214 · Cited by 480
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Xia, B., Dorsman, J. C., Ameziane, N., de Vries, Y., Rooimans, M. A., Sheng, Q., Pals, G., Errami, A., Gluckman, E., Llera, J., et al. (2007) · Nature Genetics · doi:10.1038/ng1942 · Cited by 465
Effects of Misspecifying Genetic Parameters in Lod Score Analysis
Clerget‐Darpoux, F., Bonaïti‐Pellié, C., & Hochez, J. (1986) · Biometrics · doi:10.2307/2531059 · Cited by 439
Murphy, K. M., Brune, K. A., Griffin, C. A., Sollenberger, J. E., Petersen, G. M., Bansal, R. K., Hruban, R. H., & Kern, S. E. (2002) · PubMed · Cited by 435
Advances in counselling and surveillance of patients at risk for pancreatic cancer: Table 1
Brand, R. E., Lerch, M. M., Rubinstein, W. S., Neoptolemos, J. P., Whitcomb, D. C., Hruban, R. H., Brentnall, T. A., Lynch, H. T., & Canto, M. I. (2007) · Gut · doi:10.1136/gut.2006.108456 · Cited by 319
The Prevalence of BRCA2 Mutations in Familial Pancreatic Cancer
Couch, F. J., Johnson, M. R., Rabe, K. G., Brune, K. A., de Andrade, M., Goggins, M., Rothenmund, H., Gallinger, S., Klein, A. P., Petersen, G. M., et al. (2007) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-06-0783 · Cited by 273
Langer, P., Kann, P. H., Fendrich, V., Habbe, N., Schneider, M., Sina‐Frey, M., Slater, E. P., Heverhagen, J. T., Gress, T. M., Rothmund, Μ., et al. (2009) · Gut · doi:10.1136/gut.2008.171611 · Cited by 249
Tischkowitz, M. D., Sabbaghian, N., Hamel, N., Borgida, A., Rosner, C., Taherian, N., Srivastava, A., Holter, S., Rothenmund, H., Ghadirian, P., et al. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.06.055 · Cited by 187
Penetrance Analysis of the PALB2 c.1592delT Founder Mutation
Erkko, H., Dowty, J. G., Nikkilä, J., Syrjäkoski, K., Mannermaa, A., Pylkäs, K., Southey, M. C., Holli, K., Kallioniemi, A. H., Jukkola‐Vuorinen, A., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0210 · Cited by 107
Man bites dog? The validity of maximizing lod scores to determine mode of inheritance
Elston, R. C. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320340407 · Cited by 87
Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE
Dietter, J., Mattheisen, M., Fürst, R., Rüschendorf, F., Wienker, T. F., & Strauch, K. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl539 · Cited by 26
Research works printed but not linked: 1
- Strauch K., 2003, Parametric linkage analysis with automatic optimization of the disease model parameters, Am J Hum Genet, 73, A2624
Cited by
Sorted by citations
Vincent, A., Herman, J. M., Schulick, R., Hruban, R. H., & Goggins, M. (2011) · The Lancet · doi:10.1016/s0140-6736(10)62307-0 · Cited by 2,678
Epidemiology of Pancreatic Cancer: Global Trends, Etiology and Risk Factors
Rawla, P., Sunkara, T., & Gaduputi, V. (2019) · World Journal of Oncology · doi:10.14740/wjon1166 · Cited by 2,269
Li, D., Xie, K., Wolff, R. A., & Abbruzzese, J. L. (2004) · The Lancet · doi:10.1016/s0140-6736(04)15841-8 · Cited by 1,731
Pancreatic Adenocarcinoma, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
Tempero, M. A., Malafa, M. P., Al-Hawary, M. M., Behrman, S. W., Benson, A. B., Cardin, D. B., Chiorean, E. G., Chung, V. M., Czito, B. G., Chiaro, M. D., et al. (2021) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2021.0017 · Cited by 1,356
Pancreatic cancer epidemiology: understanding the role of lifestyle and inherited risk factors
Klein, A. P. (2021) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-021-00457-x · Cited by 1,258
Metadata
- Authors
- Slater, E., Langer, P., Niemczyk, E., Strauch, K., Butler, J., Habbe, N., Neoptolemos, J., Greenhalf, W., & Bartsch, D.
- Affiliations
- Philipps University of Marburg (DE)
- University of Liverpool (GB)
- Corresponding author
- Slater, EP
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2010-03-18
- Volume
- 78
- Issue
- 5
- Pages
- 490-494
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2112123361
- Cited by
- 278
- References
- 16
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4 · 2023: 8 · 2022: 52 · 2021: 18 · 2020: 18 · 2019: 15 · 2018: 13 · 2017: 16 · 2016: 24 · 2015: 21 · 2014: 24 · 2013: 15 · 2012: 19
- FWCI
- 9.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Cancer Research UK
- National Institute for Health and Care Research
- European Commission
- Deutsche Krebshilfe
- 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
- PALB2, familial pancreatic cancer, truncating mutations, hereditary breast cancer, European family
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Adult, Breast Neoplasms, Female, Humans, Male, Middle Aged, Nuclear Proteins, Pancreatic Neoplasms, Germ-Line Mutation, Tumor Suppressor Proteins, White People
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