Myriad研发出检测乳腺癌和卵巢癌的分子诊断方法

 
一种新型分子诊断检测方法能够检测罕见的BRCA1和BRCA2的基因大规模重排，能够用于乳腺癌高危的女性。

BRCA1和BRCA2基因发生变异，罹患乳腺癌的可能大大增加，这些基因的缺陷导致绝大多数遗传性乳腺癌和卵巢癌的发生。BRACAnalysis是由Myriad基因实验室(Salt Lake City, UT, USA)研制开发的，是遗传性乳腺和卵巢癌的商品化检测方法，可以进行全序列基因突变检测。Myriad科研人员发现了另外类型的突变，叫做大规模重排，不能被商品化的DNA测序技术所发现，而只能通过繁重的手工研究方法所检测。
 
Molecular Test Detects Risk of Breast and Ovarian Cancer
 
A new molecular diagnostic test detects rare, large rearrangements of the DNA in the BRCA1 and BRCA2 genes and will be performed for women with exceptionally high risk of breast cancer.

Mutations in the two genes BRCA1 and BRCA2 appear to greatly increase a person’s chances of developing breast cancer, and defects in the genes account for the majority of both hereditary breast and ovarian cancers. BRACAnalysis, developed by Myriad Genetic Laboratories’ (Salt Lake City, UT, USA), is a commercial test for hereditary breast and ovarian cancer that incorporates a thorough full-sequence analysis for gene-mutation detection. Myriad scientists discovered that an additional type of mutation, known as a large rearrangement, was not detectable by commercial DNA sequencing technologies but only by laborious, manual-research-based methods.