Cited by 278Pancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancerBRCA gene mutations in cancer

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

Slater, EP, Langer, P, Niemczyk, E, Strauch, K, Butler, J, Habbe, N, Neoptolemos, JP, Greenhalf, W, Bartsch, DK·2010·Clinical Genetics

DOI 10.1111/j.1399-0004.2010.01425.x

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1111/j.1399-0004.2010.01425.x

Cites

16 of 16 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

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.”
Background
PALB2 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
Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%.
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

Show all 16 references

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

Sorted by citations

Items 101–200 of 278

Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer
Fernandes, P. H., Saam, J. R., Peterson, J., Hughes, E., Kaldate, R., Cummings, S. A., Theisen, A. P., Chen, S., Trost, J. T., & Roa, B. B. (2014) · Cancer · doi:10.1002/cncr.28504 · Cited by 29
PALB2: research reaching to clinical outcomes for women with breast cancer
Southey, M. C., Winship, I., & Nguyen‐Dumont, T. (2016) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-016-0049-2 · Cited by 29
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
Mucaki, E. J., Caminsky, N., Perri, A. M., Lu, R., Laederach, A., Halvorsen, M., Knoll, J. H. M., & Rogan, P. K. (2016) · BMC Medical Genomics · doi:10.1186/s12920-016-0178-5 · Cited by 27
Personalized and precision medicine: integrating genomics into treatment decisions in gastrointestinal malignancies
Au, T. H., Wang, K., Stenehjem, D. D., & Garrido‐Laguna, I. (2017) · Journal of Gastrointestinal Oncology · doi:10.21037/jgo.2017.01.04 · Cited by 29
A novel PALB2 truncating mutation in an Italian family with male breast cancer
Vietri, M. T., Caliendo, G., Casamassimi, A., Cioffi, M., PAOLA, M. L. D., Claudio Napoli, A., & Molinari, A. M. (2014) · Oncology Reports · doi:10.3892/or.2014.3685 · Cited by 28
Pharmacotherapeutic strategies for treating pancreatic cancer: advances and challenges
Diab, M., Azmi, A. S., Mohammad, R. M., & Philip, P. A. (2018) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2018.1561869 · Cited by 28
Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era
Macedo, G. S., Alemar, B., & Ashton‐Prolla, P. (2019) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2018-0104 · Cited by 28
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinomaPreprint
Busch, E., Kreutzfeldt, S., Agaimy, A., Mechtersheimer, G., Horak, P., Brors, B., Hutter, B., Fröhlich, M., Uhrig, S., Mayer, P., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005553 · Cited by 26
Endoscopic ultrasonography for surveillance of individuals at high risk for pancreatic cancer
Lami, G. (2014) · World Journal of Gastrointestinal Endoscopy · doi:10.4253/wjge.v6.i7.272 · Cited by 25
Genetic determinants and potential therapeutic targets for pancreatic adenocarcinoma
Reznik, R. S., Hendifar, A. E., & Tuli, R. (2014) · Frontiers in Physiology · doi:10.3389/fphys.2014.00087 · Cited by 25
Familial pancreatic cancer—status quo
Fendrich, V., Langer, P., & Bartsch, D. K. (2013) · International Journal of Colorectal Disease · doi:10.1007/s00384-013-1760-3 · Cited by 24
PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland
Kluska, A., Bałabas, A., Piątkowska, M., Czarny, K., Paczkowska, K., Nowakowska, D., Mikuła, M., & Ostrowski, J. (2017) · BMC Medical Genomics · doi:10.1186/s12920-017-0251-8 · Cited by 24
Familial Pancreatic Cancer and Surveillance of High-Risk Individuals
Matsubayashi, H., Takaori, K., Morizane, C., & Kiyozumi, Y. (2019) · Gut and Liver · doi:10.5009/gnl18449 · Cited by 24
Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives
Zimmer, K., Kocher, F., Puccini, A., & Seeber, A. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.662055 · Cited by 23
New Developments in Pancreatic Cancer
Greer, J. B., & Brand, R. E. (2011) · Current Gastroenterology Reports · doi:10.1007/s11894-011-0175-y · Cited by 23
The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome
Lener, M. R., Kashyap, A., Kluźniak, W., Cybulski, C., Soluch, A., Pietrzak, S., Huzarski, T., Gronwald, J., & Lubiński, J. (2016) · Cancer Research and Treatment · doi:10.4143/crt.2016.217 · Cited by 23
Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers
de Mestier, L., Danset, J. B., Neuzillet, C., Rebours, V., Cros, J. F., Soufir, N., & Hammel, P. R. (2016) · Endocrine Related Cancer · doi:10.1530/erc-16-0269 · Cited by 23
Genome-wide sequencing to identify the cause of hereditary cancer syndromes: With examples from familial pancreatic cancer
Roberts, N. J., & Klein, A. P. (2012) · Cancer Letters · doi:10.1016/j.canlet.2012.11.008 · Cited by 20
The German National Case Collection for Familial Pancreatic Cancer (FaPaCa)
Bartsch, D. K., Matthäi, E., Mintziras, I., Bauer, C. A., Figiel, J. H., Sina-Boemers, M., Gress, T. M., Langer, P., & Slater, E. P. (2021) · Deutsches Ärzteblatt international · doi:10.3238/arztebl.m2021.0004 · Cited by 21
Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family
Yang, C., Arnold, A. G., Trottier, M., Sonoda, Y., Abu‐Rustum, N. R., Zivanovic, O., Robson, M. E., Stadler, Z. K., Walsh, M. F., Hyman, D. M., et al. (2016) · Breast Cancer Research and Treatment · doi:10.1007/s10549-016-4021-7 · Cited by 18
Reviews on Current Liquid Biopsy for Detection and Management of Pancreatic Cancers
Kaczor‐Urbanowicz, K. E., Cheng, J. C., King, J. C., Sedarat, A., Pandol, S. J., Farrell, J. J., Wong, D. T., & Kim, Y. H. (2020) · Pancreas · doi:10.1097/mpa.0000000000001662 · Cited by 23
Hereditary Pancreatic and Hepatobiliary Cancers
Haddad, A. J., Kowdley, G. C., Pawlik, T. M., & Cunningham, S. C. (2011) · International Journal of Surgical Oncology · doi:10.1155/2011/154673 · Cited by 19
Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
Lener, M. R., Scott, R. J., Kluźniak, W., Baszuk, P., Cybulski, C., Wiechowska–Kozłowska, A., Huzarski, T., Byrski, T., Kładny, J., Pietrzak, S., et al. (2016) · International Journal of Cancer · doi:10.1002/ijc.30116 · Cited by 19
Genetic Testing by Cancer Site
Axilbund, J. E., & Wiley, E. (2012) · The Cancer Journal · doi:10.1097/ppo.0b013e3182624694 · Cited by 20
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
Janssen, B. V., Bellis, S., Köller, T., Tischkowitz, M. D., & Liau, S. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0680-7 · Cited by 19
Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines
Bennett, C. F., Suguitan, M. D., Abad, J., & Chawla, A. (2022) · Pancreatology · doi:10.1016/j.pan.2022.05.005 · Cited by 18
Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines
Zierhut, H. A., Tryon, R. K., & Sanborn, E. M. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9754-z · Cited by 17
Breast Cancer Genetics for the Surgeon: An Update on Causes and Testing Options
Grignol, V. P., & Agnese, D. M. (2016) · Journal of the American College of Surgeons · doi:10.1016/j.jamcollsurg.2016.01.005 · Cited by 17
Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes
Lu, J., Yu, R., Liu, R., Liang, X., Sun, J. H., Zhang, H., Wu, H., Zhang, Z., Shao, Y. W., Guo, J., et al. (2020) · Cancer Medicine · doi:10.1002/cam4.3679 · Cited by 17
Inherited Pancreatic Cancer Syndromes and High-Risk Screening
Biller, L. H., Wolpin, B. M., & Goggins, M. (2021) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2021.06.002 · Cited by 19
Targeting Defects in the Cellular DNA Damage Response for the Treatment of Pancreatic Ductal Adenocarcinoma
Schmitt, A., Feldmann, G., Zander, T., & Reinhardt, H. C. (2018) · Oncology Research and Treatment · doi:10.1159/000493401 · Cited by 18
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families
Haanpää, M. K., Pylkäs, K., Moilanen, J. S., & Winqvist, R. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-82 · Cited by 17
Frequency and molecular characteristics of PALB2 ‐associated cancers in Russian patients
Преображенская, Е. В., Shleykina, A. Y., Gorustovich, O. A., Martianov, A. S., Валерьевич, Б. И., Anisimova, E. I., Соколова, Т. Н., Chuinyshena, S. A., Kuligina, E. S., Togo, A. V., et al. (2020) · International Journal of Cancer · doi:10.1002/ijc.33317 · Cited by 17
Assessment of PALB2 as a Candidate Melanoma Susceptibility Gene
Aoude, L. G., Xu, M., Zhao, Z., Kovacs, M. A., Palmer, J. M., Johansson, P. A., Symmons, J., Trent, J. M., Martin, N. G., Montgomery, G. W., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0100683 · Cited by 16
Long-term positive psychological outcomes in an Australian pancreatic cancer screening program
O'Neill, R. S., Meiser, B., Emmanuel, S., Williams, D. B., & Stoita, A. (2019) · Familial Cancer · doi:10.1007/s10689-019-00147-3 · Cited by 16
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction
Boonen, R. A. C. M., Vreeswijk, M. P. G., & van Attikum, H. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.00169 · Cited by 18
The Clinical Utility of Biomarkers in the Management of Pancreatic Adenocarcinoma
Jazieh, K., Foote, M. B., & Diaz, L. A. (2014) · Seminars in Radiation Oncology · doi:10.1016/j.semradonc.2013.11.007 · Cited by 16
Negative methylation status ofVimentinpredicts improved prognosis in pancreatic carcinoma
Zhou, Y. (2014) · World Journal of Gastroenterology · doi:10.3748/wjg.v20.i36.13172 · Cited by 15
Pancreatic Cancer Exposome Profile to Aid Early Detection and Inform Prevention Strategies
Monroy‐Iglesias, M. J., Dolly, S. O., Sarker, D., Thillai, K., Hemelrijck, M. V., & Santaolalla, A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10081665 · Cited by 15
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients
Kwong, A., Shin, V. Y., Ho, C. Y. S., Khalid, A., Au, C. H., Chan, K. K. L., Ngan, H., Chan, T., & Ma, E. S. K. (2021) · Cancers · doi:10.3390/cancers13164195 · Cited by 14
Clinical importance of Familial Pancreatic Cancer Registry in Japan: a report from kick‐off meeting at International Symposium on Pancreas Cancer 2012
Wada, K., Takaori, K., Traverso, L. W., Hruban, R. H., Furukawa, T., Brentnall, T. A., Hatori, T., Sano, K., Takada, T., Majima, Y., et al. (2013) · Journal of Hepato-Biliary-Pancreatic Sciences · doi:10.1007/s00534-013-0611-5 · Cited by 14
Alterations of type II classical cadherin, cadherin‐10 (CDH10), is associated with pancreatic ductal adenocarcinomas
Jinawath, N., Shiao, M., Norris, A. L., Murphy, K. M., Klein, A. P., Yonescu, R., Iacobuzio–Donahue, C. A., Meeker, A. K., Jinawath, A., Yeo, C. J., et al. (2017) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22447 · Cited by 14
Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers
Martinez, E., Silvy, F., Fina, F., Bartoli, M., Krahn, M., Barlési, F., Figarella‐Branger, D., Iovanna, J., Laugier, R., Ouaïssi, M., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.5627 · Cited by 13
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review
Pantaleo, A., Forte, G., Fasano, C., Signorile, M. L., Sanese, P., Marco, K. D., Nicola, E. D., Latrofa, M., Grossi, V., Disciglio, V., et al. (2023) · Cancers · doi:10.3390/cancers16010056 · Cited by 15
Screening of Patients at Risk for Familial Pancreatic Cancer
Torphy, R. J., & Schulick, R. D. (2017) · Surgical Clinics of North America · doi:10.1016/j.suc.2017.09.003 · Cited by 13
German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program
Franke, F. S., Matthäi, E., Slater, E. P., Schicker, C., Kruse, J., & Bartsch, D. K. (2018) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-018-0100-6 · Cited by 13
Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer
Slater, E. P., Wilke, L. M., Böhm, L. B., Strauch, K., Lutz, M., Krasser‐Gercke, N., Matthäi, E., Hemminki, K., Försti, A., Schlesner, M., et al. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11070631 · Cited by 14
Biomarkers for personalized medicine in GI cancers
Zhang, S. Y., Zhang, S. Q., Nagaraju, G. P., & El‐Rayes, B. F. (2015) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2015.06.002 · Cited by 13
Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers
Matsubayashi, H., Kiyozumi, Y., Ishiwatari, H., Uesaka, K., Kikuyama, M., & Ono, H. (2019) · Diagnostics · doi:10.3390/diagnostics9040169 · Cited by 12
Screening guidelines and recommendations for patients at high risk of developing endocrine cancers
Geurts, J. L., Strong, E. A., Wang, T. S., Evans, D. B., & Clarke, C. N. (2020) · Journal of Surgical Oncology · doi:10.1002/jso.25869 · Cited by 12
The current state of molecular profiling in gastrointestinal malignancies
Mukherji, R., Yin, C., Hameed, R., Alqahtani, A. J., Kulasekaran, M., He, A. R., Weinberg, B. A., Marshall, J. L., Hartley, M. L., & Noel, M. S. (2022) · Biology Direct · doi:10.1186/s13062-022-00322-0 · Cited by 13
Lack of association between the pancreatitis risk allele CEL-HYB and pancreatic cancer
Shindo, K., Yu, J., Suenaga, M., Fesharakizadeh, S., Tamura, K., Almario, J. A., Brant, A., Borges, M. W., Siddiqui, A., Datta, L. W., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.15137 · Cited by 11
BRCA and Pancreatic Cancer
Brennan, G. T., Relias, V., & Saif, M. W. (2013) · PubMed · doi:10.6092/1590-8577/1652 · Cited by 11
The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer
Laitman, Y., Herskovitz, L., Golan, T., Kaufman, B., Paluch, S. S., & Friedman, E. (2012) · Familial Cancer · doi:10.1007/s10689-011-9507-1 · Cited by 11
Screening for Pancreatic Cancer in High-risk Populations
Grover, S., & Jajoo, K. (2016) · Gastroenterology Clinics of North America · doi:10.1016/j.gtc.2015.10.001 · Cited by 11
Familial Pancreatic Cancer
Klein, A. P. (2023) · Wiley eBooks · doi:10.1002/9781119876007.ch124 · Cited by 11
Pancreatic cancer screening is effective in individuals at risk with predisposing germline gene variants, but not in gene variant‐negative familial pancreatic cancer families
Maurer, E., Lehman, B., Matthäi, E., Denzer, U. W., Figiel, J. H., Jesinghaus, M., Slater, E. P., Stefenelli, U., Gress, T. M., & Bartsch, D. K. (2024) · United European Gastroenterology Journal · doi:10.1002/ueg2.12631 · Cited by 9
Clinical and genetic characteristics in pancreatic cancer from Chinese patients revealed by whole exome sequencing
He, Y., Huang, W. J., Tang, Y., Li, Y., Peng, X., Li, J., Wu, J. Y., You, N., Li, L., Liu, C., et al. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1167144 · Cited by 10
Genetic factors affecting patient responses to pancreatic cancer treatment
Fotopoulos, G. (2016) · Annals of Gastroenterology · doi:10.20524/aog.2016.0056 · Cited by 9
PALB2 upregulation is associated with a poor prognosis in pancreatic ductal adenocarcinoma
Ge, O., Huang, A., Wang, X., Chen, Y., Ye, Y., & Schomburg, L. (2021) · Oncology Letters · doi:10.3892/ol.2021.12485 · Cited by 9
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
Cancer Genetics and Implications for Clinical Management
Jamieson, N. B., Chang, D. K.-F., & Biankin, A. V. (2015) · Surgical Clinics of North America · doi:10.1016/j.suc.2015.05.003 · Cited by 8
Gene of the month: PALB2
Hamdan, O., & Nowak, K. M. (2022) · Journal of Clinical Pathology · doi:10.1136/jcp-2022-208461 · Cited by 8
The genetic classification of pancreatic neoplasia
Matthaei, H., Semaan, A., & Hruban, R. H. (2015) · Journal of Gastroenterology · doi:10.1007/s00535-015-1037-4 · Cited by 10
Talking Genes in Breast and Pancreatic Malignancies
Barbara, M., Tsen, A., Tenner, L. L., & Rosenkranz, L. A. (2019) · Materia Socio Medica · doi:10.5455/msm.2019.31.146-149 · Cited by 8
Genetic Factors
Walsh, M. F., Cadoo, K. A., Salo‐Mullen, E. E., Dubard-Gault, M. E., Stadler, Z. K., & Offit, K. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-47674-4.00013-x · Cited by 10
A 60-Year-Old Male With Synchronous Acute Myeloid Leukemia and Metastatic Adenocarcinoma of the Pancreas
Cascetta, K. P., Navada, S. C., Enck, R. E., Tracy, B., Meier, D. E., Gruenstein, S., & Morris, G. J. (2014) · Seminars in Oncology · doi:10.1053/j.seminoncol.2014.09.023 · Cited by 7
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Goehringer, C., Sutter, C., Kloor, M., Gebert, J. F., Slater, E. P., Keller, M., Treiber, I., Ganschow, P., Kadmon, M., & Moog, U. (2016) · Familial Cancer · doi:10.1007/s10689-016-9952-y · Cited by 7
Genetic Alterations Featuring Biological Models to Tailor Clinical Management of Pancreatic Cancer Patients
Nelson, S. R., & Walsh, N. (2020) · Cancers · doi:10.3390/cancers12051233 · Cited by 8
Advancements in Early Detection and Screening Strategies for Pancreatic Cancer: From Genetic Susceptibility to Novel Biomarkers
Shah, Y. R., Dahiya, D. S., Tiwari, A., Kumar, H., Gangwani, M. K., Ali, H., Hayat, U., Alsakarneh, S., Singh, S. T., Malik, S., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13164706 · Cited by 7
Genetik des familiären Brust- und Eierstockkrebses: Paneldiagnostik – Möglichkeiten und Grenzen
Meindl, A., Ramser, J., Hauke, J., & Hahnen, E. (2015) · Medizinische Genetik · doi:10.1007/s11825-015-0048-0 · Cited by 6
PALB2 mutation in a woman with bilateral breast cancer: A case report
Nakagomi, H., Hirotsu, Y., Okimoto, K., Sakamoto, I., Amemiya, K., Nakagomi, S., Kubota, T., Mochizuki, H., & Omata, M. (2017) · Molecular and Clinical Oncology · doi:10.3892/mco.2017.1189 · Cited by 6
Biallelic Deletion of PALB2 Occurs Across Multiple Tumor Types and Suggests Responsiveness to Poly (ADP-ribose) Polymerase Inhibition
Bhangoo, M. S., Costantini, C. L., Clifford, B. T., Chung, J., Schrock, A. B., Ali, S. M., & Klempner, S. J. (2017) · JCO Precision Oncology · doi:10.1200/po.17.00043 · Cited by 6
De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer
Bernstein‐Molho, R., Zalmanoviz, S., Laitman, Y., & Friedman, E. (2019) · Familial Cancer · doi:10.1007/s10689-019-00157-1 · Cited by 6
Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie
Angelis, C. D., Nardelli, C., Concolino, P., Pagliuca, M., Setaro, M., Paolis, E. D., Placido, P. D., Forestieri, V., Scaglione, G. L., Ranieri, A., et al. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.602523 · Cited by 6
Familial Pancreatic Cancer
Roberts, N. J., & Klein, A. P. (2018) · Springer eBooks · doi:10.1007/978-1-4939-7193-0_78 · Cited by 6
The Genetics of Breast Cancer
Weitzel, J. N. (2015) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2015.06.011 · Cited by 6
Familial Pancreatic Cancer
Lynch, H. T., Lynch, J. F., & Lanspa, S. J. (2010) · Cancers · doi:10.3390/cancers2041861 · Cited by 7
Beyond BRCA: Review of Hereditary Syndromes Predisposing to Breast Cancer
Nguyen, J. V., & Thomas, M. H. (2019) · Journal of Breast Imaging · doi:10.1093/jbi/wbz014 · Cited by 5
Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review
Rogges, E., Corati, T., Amato, M., Campagna, D., Farro, J., Toffol, S. D., Fortunato, L., & Costarelli, L. (2024) · Pathologica · doi:10.32074/1591-951x-936 · Cited by 5
Genetic predisposition to breast cancer: The next chapters
Boyd, J. A. (2014) · Cancer · doi:10.1002/cncr.28503 · Cited by 5
A novel germline mutation of the PALB gene in a young Yakut breast cancer woman
Анатольевна, Г. П., Юрьевич, М. А., Зарубин, А. А., Ivanova, A. A., Тихонов, Д., Kipriyanova, N. S., Николаевич, Е. А., Zhuikova, L. D., Шефер, Н. А., Topolnitskiy, E. B., et al. (2022) · Siberian Journal of Oncology · doi:10.21294/1814-4861-2022-21-4-72-79 · Cited by 4
Understanding familial risk of pancreatic ductal adenocarcinoma
Paranal, R. M., Wood, L. D., Klein, A. P., & Roberts, N. J. (2024) · Familial Cancer · doi:10.1007/s10689-024-00383-2 · Cited by 4
A synonymous germline variant PALB2 c.18G>T (p.Gly6= ) disrupts normal splicing in a family with pancreatic and breast cancers
Yang, C.-Y., Ceyhan-Birsoy, O., Mandelker, D., Jairam, S., Catchings, A., O'Reilly, E., Walsh, M., & Zhang, L.-Y. (2018) · Breast Cancer Research and Treatment · doi:10.1007/s10549-018-4980-y · Cited by 4
Identification of genetic risk for pancreatic adenocarcinoma
Flores, K., Dinh, K. H., Rouleau, E., Whalen, G. F., Wassef, W. Y., & LaFemina, J. (2015) · Cancer Genetics · doi:10.1016/j.cancergen.2015.09.002 · Cited by 4
Familial Pancreatic Cancer
Roberts, N. J., & Klein, A. P. (2016) · Springer eBooks · doi:10.1007/978-1-4939-6631-8_78-1 · Cited by 4
MiRNAs and Their Interference with the Main Molecular Mechanisms Responsible for Drug Resistance in Pancreatic Cancer
Garajová, I., Giovannetti, E., Caponi, S., van Zweeden, A., & Peters, G. J. (2015) · Current Pharmacology Reports · doi:10.1007/s40495-014-0008-4 · Cited by 3
Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient
Kahn, R. M., Garcia-Soto, A. E., Silva‐Smith, R., Pinto, A., & George, S. H. L. (2016) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2016.08.001 · Cited by 3
Genetic predisposition for pancreatic cancer
Nakashidze, I., & Ahmad, S. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-819457-7.00008-6 · 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
Pancreatic Cancer
Barreto, S. G. (2018) · Springer eBooks · doi:10.1007/978-981-10-8755-4_16 · Cited by 3
Mutation analysis of PALB2 in high-risk and lower-risk patients negative for BRCA1 and BRCA2 mutations.
Cummings, S. A., Peterson, J., Hughes, E., Kaldate, R., Chen, S., Trost, J. T., Arnell, C., Saam, J. R., Roa, B. B., & Fernandes, P. H. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2012.30.27_suppl.30 · 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
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
Molecular Pathology of Gastrointestinal Cancer
Yantiss, R. K., & Samowitz, W. S. (2012) · Surgical pathology clinics · doi:10.1016/j.path.2012.08.002 · Cited by 2
Breast Cancer With Rare Metastatic Manifestation
Magnoni, F., Tonno, C. D., Accardo, G., Calvello, M., Corso, G., Sacchini, V., Galimberti, V. E., & Veronesi, P. (2019) · Future Oncology · doi:10.2217/fon-2019-0263 · Cited by 2
Methylation status of potential genes in breast cancer patients and correlate them with gene expression
Azmi, N., & Shahid, A. (2023) · World Journal of Advanced Research and Reviews · doi:10.30574/wjarr.2023.17.1.0076 · Cited by 2
Familial Pancreatic Cancer
Klein, A. P. (2018) · doi:10.1002/9781119188421.ch91 · Cited by 2
Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germline PALB2 variant: a case report and literature review
Czarny, J., Galli, D., Wziątek, A., Pastorczak, A. K., Szmyd, B. M., Przybyszewski, B., Raciborska, A., Jończyk‐Potoczna, K., & Derwich, K. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1514697 · Cited by 1
Genetic Aspects of Celiac Disease in Association with Pancreatic Tumors
Procházka, P. (2016) · International Journal of Celiac Disease · doi:10.12691/ijcd-2-3-6 · Cited by 1

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
ORCID: Strauch, K
Butler, J
Greenhalf, W
Venue: Clinical Genetics
Publisher: Wiley
Published: 2010-03-18
Volume: 78
Issue: 5
Pages: 490-494
ISSN: 0009-9163 (ISSN-L)
1399-0004
DOI: 10.1111/j.1399-0004.2010.01425.x
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

PALB2 mutations in European familial pancreatic cancer families

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks