caa a22 4500 445331240 CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-010-9405-y doi (NATIONALLICENCE)springer-10.1007/s10689-010-9405-y Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma [Elektronische Daten] [N. Sabbaghian, R. Kyle, A. Hao, D. Hogg, M. Tischkowitz] PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate gene for susceptibility to BRCA2-related cancers such as melanoma. The purpose of this study was to screen for the presence of germline mutations in PALB2 in familial melanoma cases. We sequenced the exons and intron-exon boundaries of PALB2 in probands from 53 families with familial melanoma where CDKN2A mutations were absent. A number of previously reported coding and non-coding variants were observed. However, no truncating mutations were identified. These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in familial melanoma. Springer Science+Business Media B.V., 2010 Familial melanoma nationallicence PALB2 nationallicence Sabbaghian N. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut Kyle R. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut Hao A. Department of Medicine, University of Toronto, Toronto, ON, Canada aut Hogg D. Department of Medicine, University of Toronto, Toronto, ON, Canada aut Tischkowitz M. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 315-317 1389-9600 10:2<315 2011 10 10689 https://doi.org/10.1007/s10689-010-9405-y text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9405-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sabbaghian N. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Kyle R. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Hao A. Department of Medicine, University of Toronto, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Hogg D. Department of Medicine, University of Toronto, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Tischkowitz M. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 315-317 1389-9600 10:2<315 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer