一種新型分子診斷檢測方法能夠檢測罕見的BRCA1和BRCA2的基因大規(guī)模重排，能夠用于乳腺癌高危的女性。

BRCA1和BRCA2基因發(fā)生變異，罹患乳腺癌的可能大大增加，這些基因的缺陷導(dǎo)致絕大多數(shù)遺傳性乳腺癌和卵巢癌的發(fā)生。BRACAnalysis是由Myriad基因?qū)嶒炇?Salt Lake City, UT, USA)研制開發(fā)的，是遺傳性乳腺和卵巢癌的商品化檢測方法，可以進(jìn)行全序列基因突變檢測。Myriad科研人員發(fā)現(xiàn)了另外類型的突變，叫做大規(guī)模重排，不能被商品化的DNA測序技術(shù)所發(fā)現(xiàn)，而只能通過繁重的手工研究方法所檢測。
 
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.