caa a22 4500 445330783 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9447-9 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9447-9 Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer [Elektronische Daten] [Xiaohong Yang, Lea Jessop, Timothy Myers, Laufey Amundadottir, Ruth Pfeiffer, William Wheeler, Kristen Pike, Jeff Yuenger, Laurie Burdett, Meredith Yeager, Stephen Chanock, Margaret Tucker, Alisa Goldstein] The presence of pancreatic cancer (PC) in melanoma-prone families has been consistently associated with an increased frequency of CDKN2A mutations, the major high-risk susceptibility gene identified for melanoma. However, the precise relationship between CDKN2A, melanoma and PC remains unknown. We evaluated a recently identified PC susceptibility gene PALB2 using both sequencing and tagging to determine whether PALB2 might explain part of the relationship between CDKN2A, melanoma, and PC. No disease-related mutations were identified from sequencing PALB2 in multiple pancreatic cancer patients or other mutation carrier relatives of PC patients from the eight melanoma-prone families with CDKN2A mutations and PC. In addition, no significant associations were observed between 11 PALB2 tagging SNPs and melanoma risk in 23 melanoma-prone families with CDKN2A mutations or the subset of 11 families with PC or PC-related CDKN2A mutations. The results suggested that PALB2 does not explain the relationship between CDKN2A, melanoma, and pancreatic cancer in these melanoma-prone families. Springer Science+Business Media B.V.(outside the USA), 2011 CDKN2A nationallicence PALB2 nationallicence Familial melanoma nationallicence Pancreatic cancer nationallicence Germline mutation nationallicence Yang Xiaohong Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Jessop Lea Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Myers Timothy Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Amundadottir Laufey Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Pfeiffer Ruth Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Wheeler William Information Management Services, Inc, Rockville, MD, USA aut Pike Kristen Laboratory of Molecular Technology, NCI-Frederick, SAIC-Frederick, Inc, Frederick, MD, USA aut Yuenger Jeff Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Burdett Laurie Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Yeager Meredith Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Chanock Stephen Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Tucker Margaret Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Goldstein Alisa Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 545-548 1389-9600 10:3<545 2011 10 10689 https://doi.org/10.1007/s10689-011-9447-9 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9447-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Yang Xiaohong Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Jessop Lea Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Myers Timothy Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Amundadottir Laufey Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Pfeiffer Ruth Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Wheeler William Information Management Services, Inc, Rockville, MD, USA aut NATIONALLICENCE 700 1- Pike Kristen Laboratory of Molecular Technology, NCI-Frederick, SAIC-Frederick, Inc, Frederick, MD, USA aut NATIONALLICENCE 700 1- Yuenger Jeff Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Burdett Laurie Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Yeager Meredith Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Chanock Stephen Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Tucker Margaret Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Goldstein Alisa Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, DHHS, Bethesda, MD, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 545-548 1389-9600 10:3<545 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer