Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada.
Fam Cancer. 2011 Jun;10(2):315-7. doi: 10.1007/s10689-010-9405-y.
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，其蛋白与 BRCA2 密切相关，是 BRCA2 锚定核结构所必需的。这种功能关系使 PALB2 成为易患 BRCA2 相关癌症（如黑色素瘤）的候选基因。本研究旨在筛查无 CDKN2A 突变的家族性黑色素瘤病例中 PALB2 种系突变的存在。我们对 53 个家族性黑色素瘤先证者的 PALB2 外显子和内含子-外显子边界进行了测序，这些家族中缺失 CDKN2A 突变。观察到了一些先前报道的编码和非编码变异。然而，没有发现截断突变。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发挥重要作用。
