Osorio A, Robledo M, Albertos J, Díez O, Alonso C, Baiget M, Benítez J
Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
Cancer Lett. 1998 Jan 30;123(2):153-8. doi: 10.1016/s0304-3835(97)00416-3.
BRCA1 accounts for nearly all families with multiple cases of both early onset breast and ovarian cancer and about 45% of families with breast cancer only. Although to date more than 200 distinct mutations have been described, several have been found to be recurrent in the gene. We have analyzed 87 Spanish breast/ovarian cancer families for the six most recurrent mutations in the BRCA1 gene. The analysis of the five exons where these mutations are located was made using the SSCP and sequenciation techniques. Four mutations were found in our families and only two carried one of the six mutations analyzed. In both cases the mutation identified was 185delAG. Our results suggest that these six mutations are not specially recurrent in the Spanish population and that differences in the geographical origin of the families can influence the type and proportion of mutations identified.
BRCA1基因几乎与所有早发性乳腺癌和卵巢癌多发的家族相关，且与约45%仅患乳腺癌的家族有关。尽管迄今为止已描述了200多种不同的突变，但发现该基因中有几种突变是反复出现的。我们分析了87个西班牙乳腺癌/卵巢癌家族中BRCA1基因最常见的六种突变。使用SSCP和测序技术对这些突变所在的五个外显子进行了分析。在我们研究的家族中发现了四种突变，只有两个家族携带所分析的六种突变之一。在这两种情况下，鉴定出的突变均为185delAG。我们的结果表明，这六种突变在西班牙人群中并非特别常见，家族地理起源的差异可能会影响所鉴定突变的类型和比例。
