Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma

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.

PALB2是一种乳腺癌和胰腺癌易感基因，其蛋白质与BRCA2密切相关，对BRCA2锚定到核结构至关重要。这种功能关系使PALB2成为与BRCA2相关癌症（如黑色素瘤）易感性的候选基因。本研究的目的是在家族性黑色素瘤病例中筛查PALB2基因的种系突变情况。我们对53个无CDKN2A突变的家族性黑色素瘤家系的先证者的PALB2外显子及内含子 - 外显子边界进行了测序。观察到了一些先前报道的编码和非编码变异。然而，未发现截短突变。这些结果表明，有害的PALB2突变不太可能在家族性黑色素瘤中起重要作用。