caa a22 4500 44533133X CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-011-9426-1 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9426-1 PALB2 mutations in familial breast and pancreatic cancer [Elektronische Daten] [Erin Hofstatter, Susan Domchek, Alexander Miron, Judy Garber, Molin Wang, Kathryn Componeschi, Leigh Boghossian, Penelope Miron, Katherine Nathanson, Nadine Tung] PALB2 (Partner And Localizer of BRCA2) binds to and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1-2% of familial breast cancer and 3-4% of familial pancreatic cancer cases. The goal of this study was to evaluate the prevalence of PALB2 mutations in women with breast cancer without BRCA1/2 mutations who also had a personal or family history of pancreatic cancer. PALB2 mutation analysis was performed in 94 non-BRCA1/2 breast cancer patients with a personal or family history of pancreatic cancer. Two truncating PALB2 mutations, c.3549C>CA and c.2962C>CT, were identified resulting in a mutation prevalence of 2.1%. The proband found to carry the c.3549C>CA PALB2 mutation had a mother diagnosed with both breast and pancreatic cancer; this relative was subsequently confirmed to carry the identical mutation. The proband with the c.2962C>CT mutation had a father and paternal aunt diagnosed with pancreatic cancer; neither relative was available for testing. Two novel PALB2 missense variants were also found, one of which was deemed potentially deleterious. The prevalence rate of PALB2 mutations in a non-BRCA1/2 breast cancer population specifically selected for a family history of pancreatic cancer does not appear to be significantly increased compared to that observed in other breast cancer populations studied thus far. Further evaluation is needed to determine the prevalence of PALB2 mutations and the clinical utility of such testing in those individuals affected with both breast and pancreatic cancers. Springer Science+Business Media B.V., 2011 BRCA2 nationallicence Breast cancer nationallicence PALB2 nationallicence Pancreatic cancer nationallicence Hofstatter Erin Section of Medical Oncology, Yale Cancer Center, Yale School of Medicine, 333 Cedar Street, PO Box 208032, 06520-8032, New Haven, CT, USA aut Domchek Susan Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Miron Alexander Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut Garber Judy Division of Population Sciences and Adult Oncology, Dana-Farber Cancer Institute, Boston, MA, USA aut Wang Molin Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut Componeschi Kathryn Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA aut Boghossian Leigh Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Miron Penelope Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut Nathanson Katherine Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Tung Nadine Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 225-231 1389-9600 10:2<225 2011 10 10689 https://doi.org/10.1007/s10689-011-9426-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9426-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hofstatter Erin Section of Medical Oncology, Yale Cancer Center, Yale School of Medicine, 333 Cedar Street, PO Box 208032, 06520-8032, New Haven, CT, USA aut NATIONALLICENCE 700 1- Domchek Susan Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Miron Alexander Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut NATIONALLICENCE 700 1- Garber Judy Division of Population Sciences and Adult Oncology, Dana-Farber Cancer Institute, Boston, MA, USA aut NATIONALLICENCE 700 1- Wang Molin Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut NATIONALLICENCE 700 1- Componeschi Kathryn Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA aut NATIONALLICENCE 700 1- Boghossian Leigh Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Miron Penelope Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA aut NATIONALLICENCE 700 1- Nathanson Katherine Division of Medical Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Tung Nadine Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 225-231 1389-9600 10:2<225 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer