Genomic rearrangements in BRCA1 and BRCA2: A literature review.
Genomic rearrangements in BRCA1 and BRCA2: A literature review.
复制标题
DOI：
10.1590/s1415-47572009005000049
复制
发表时间：
2009-07
影响因子：
2.1
通讯作者：
Ashton-Prolla P
中科院分区：
文献类型：
--
作者：
Ewald IP;Ribeiro PL;Palmero EI;Cossio SL;Giugliani R;Ashton-Prolla P
携带乳腺癌基因BRCA1或BRCA2突变的女性一生中患乳腺癌、卵巢癌和其他brca相关癌症的风险更高。然而，遗传性乳腺癌和卵巢癌（HBOC）综合征家族中检测到的生殖系突变数量低于基于遗传连锁数据的预期。在一些高危家族中，BRCA基因中未被发现的有害突变是由于基因内重排的存在，如跨整个外显子的缺失、重复或插入。本文综述了BRCA1和BRCA2重排的分子方面及其在不同人群中的频率。还介绍了用于筛选BRCA1和BRCA2大重排的技术的概述。BRCA基因重排的检测，特别是BRCA1基因的检测，为临床实践中的突变筛查提供了一个很好的前景，特别是在传统方法评估的种系突变检测阴性的HBOC家族中。
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also presented. The detection of rearrangements in BRCA genes, especially BRCA1, offers a promising outlook for mutation screening in clinical practice, particularly in HBOC families that test negative for a germline mutation assessed by traditional methods.