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首页> 外文期刊>Human mutation >Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland.
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Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland.

机译：来自东北波兰的乳腺癌和/或卵巢癌家族的创始人BRCA1突变和两个新的生殖系BRCA2突变。

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摘要

Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact of BRCA2 mutations in Poland, we have analyzed 25 high-risk breast and/or ovarian cancer families from North-Eastern Poland for mutations in all coding exons of the BRCA1 and BRCA2 genes, using combined heteroduplex analysis/SSCP followed by direct DNA sequence analysis. Out of 25 probands a total of five (20%) carried three recurrent BRCA1 mutations (300T>G, 3819del5, 5382insC). The 300T>G mutation accounted for 60% (3/5) of BRCA1 mutations and allelotyping suggested a common founder of this mutation. No unique mutations were found. In addition, we identified three BRCA2 (12%) mutations, one recurrent 4075delGT, and two novel frameshift mutations, 7327ins/dupl19 and 9068delA. We conclude that 30% of high-risk families from North-Eastern Poland may be due to recurrent BRCA1 and unique BRCA2 mutations. Intriguingly, the BRCA1 mutation spectrum seems to be different within subregions of Poland. Copyright 2000 Wiley-Liss, Inc.
机译：根据所研究的人群，BRCA1和BRCA2基因中的种系突变占高危乳腺癌/卵巢癌家族的大多数。以前，来自波兰西部的女性描述了BRCA1突变。为了进一步表征BRCA1突变的谱图和BRCA2突变在波兰的影响，我们使用以下方法分析了来自东北波兰的25个高风险乳腺癌和/或卵巢癌家庭的BRCA1和BRCA2基因所有编码外显子中的突变。结合异源双链分析/ SSCP，然后进行直接DNA序列分析。在25个先证者中，共有五个（20％）携带三个复发性BRCA1突变（300T> G，3819del5、5382insC）。 300T> G突变占BRCA1突变的60％（3/5），而定型分析表明该突变是该突变的共同创始人。没有发现独特的突变。此外，我们鉴定了三个BRCA2（12％）突变，一个复发性4075delGT和两个新的移码突变：7327ins / dupl19和9068delA。我们得出的结论是，来自东北波兰的30％高危家庭可能是由于BRCA1反复发作和独特的BRCA2突变引起的。有趣的是，BRCA1突变谱在波兰的次区域似乎不同。版权所有2000 Wiley-Liss，Inc.

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