Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.
Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.
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DOI：
10.1155/1999/241046
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发表时间：
1999-10
期刊：
影响因子：
--
通讯作者：
Messiaen L
中科院分区：
文献类型：
--
作者：
Claes K;Machackova E;De Vos M;Poppe B;De Paepe A;Messiaen L
自从BRCA1和BRCA2基因被鉴定以来，已经有数百个不同的胚系突变在这两个基因中被报道。反复发生的突变很少见，主要是由于创始人效应。由于比利时患者群体中BRCA1和BRCA2基因的突变谱在很大程度上是未知的，我们启动了对比利时多发性乳腺癌和/或卵巢癌患者家族中这两个基因的完整编码序列的突变分析，并对早发性疾病的“零星”患者进行了分析。我们完成了对49个家庭和19个“零星”女性早发性乳腺癌和/或卵巢癌患者的分析。在15个家系中，我们发现了一个突变(BRCA1突变12个，BRCA2突变3个)。在5个明显无关的家系中，发现了相同的剪接点突变(BRCA1、IVS5+3A和GT；G)。单倍型分析显示，在所有家系中，突变的两侧都有一个共同的单倍型，这表明疾病等位基因在血统上是相同的。在19名散发性患者中没有发现突变。
Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early onset breast and/or ovarian cancer. In 15 families we identified a mutation (12 mutations in BRCA1 and 3 mutations in BRCA2). In 5 apparently unrelated families the same splice site mutation was identified (BRCA1 IVS5+3A>G). Haplotype analysis revealed a common haplotype immediately flanking the mutation in all families suggesting that disease alleles are identical by descent. In none of the 19 sporadic patients was a mutation found.