Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.
Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.
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DOI：
10.1186/1471-2407-8-146
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发表时间：
2008-05-26
期刊：
影响因子：
3.8
通讯作者：
Winqvist, Robert
中科院分区：
文献类型：
--
作者：
Pylkas, Katri;Erkko, Hannele;Nikkila, Jenni;Solyom, Szilvia;Winqvist, Robert
BRCA1和BRCA2是与家族性乳腺癌和卵巢癌易感性相关的两个最重要的基因。此外，PALB2最近在几个人群中被确定为乳腺癌易感基因。在这里，我们评估了这些基因的大规模基因组重排是否可以解释一些芬兰乳腺癌和/或卵巢癌家族。采用多重连接依赖探针扩增(MLPA)方法，对61例芬兰北部乳腺癌和/或卵巢癌家系患者进行BRCA1、BRCA2和PALB2基因外显子缺失和重复分析。通过常规的突变分析方法，对这些家系进行了全面的种系突变筛查，结果为阴性。我们在BRCA1中发现了一个大的缺失，在一个有卵巢癌家族史的家庭中缺失了该基因的大部分(外显子1A-13)。在BRCA2和PALB2中都没有发现大的基因组重排。在芬兰，有资格进行BRCA1或BRCA2突变筛查的女性，当发现阴性时，可以从筛查大的基因组重排中受益，至少在BRCA1。相反，PALB2的基因组重排似乎与遗传性乳腺癌的易感性无关。
BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in BRCA1, BRCA2 and PALB2. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative. We identified one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either BRCA2 or PALB2. In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1. On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility.
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影响因子：
64.8
作者：
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通讯作者：
Winqvist, Robert
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