A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
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发表时间：
1997-05
影响因子：
9.8
通讯作者：
T. Peelen;M. vanVliet;Anne Petrij-Bosch;R. Mieremet;C. Szabo;van den Ouweland Am;Frans B. L. Hogervorst;R. Brohet;M. Ligtenberg;E. Teugels;R. vanderLuijt;van der Hout Ah;J. Gille;G. Pals;I. Jedema;R. Olmer;I. vanLeeuwen;B. Newman;M. Plandsoen;M. vanderEst;G. Brink;S. Hageman;P. Arts;Bakker Mm;P. Devilee
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作者：
T. Peelen;M. vanVliet;Anne Petrij-Bosch;R. Mieremet;C. Szabo;van den Ouweland Am;Frans B. L. Hogervorst;R. Brohet;M. Ligtenberg;E. Teugels;R. vanderLuijt;van der Hout Ah;J. Gille;G. Pals;I. Jedema;R. Olmer;I. vanLeeuwen;B. Newman;M. Plandsoen;M. vanderEst;G. Brink;S. Hageman;P. Arts;Bakker Mm;P. Devilee
我们在收集的用于研究或临床诊断目的的643个荷兰和23个比利时遗传性乳腺癌和卵巢癌家族中发现了79个BRCA1突变。已经观察到28种不同的突变，其中18种以前没有报道过，其中12种发生了不止一次。最引人注目的是，2804delAA突变被发现了19次，从未在荷兰以外的地方报道过。在9个被检测的复发突变中，每一个都可以识别出一个跨越>或= 375 kb的共同单倍型，这表明在荷兰人群中存在多个BRCA1创始突变。据估计，2804delAA突变起源于大约32代以前。没有特定的乳腺癌或卵巢癌表型可以分配到任何常见的突变，卵巢癌的发病率在18个家庭的2804delAA突变是异质的。
We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported outside the Netherlands. A common haplotype spanning > or = 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated approximately 32 generations ago. No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous.