癌症遗传学诊所中CHEK2的检测：准备好进入黄金时代了吗？
Testing for CHEK2 in the cancer genetics clinic: ready for prime time?
作者信息
Narod S A
机构信息
Womens College Research Institute, 790 Bay, Toronto, Ontario, Canada.
出版信息
Clin Genet. 2010 Jul;78(1):1-7. doi: 10.1111/j.1399-0004.2010.01402.x.
Abstract
The 1100delC mutation of the CHEK2 gene was found to be a cause of breast cancer in 2002. The lifetime risk of breast cancer among women with a mutation and with a family history of breast cancer is approximately 25%. These women are good candidates for screening with MRI and for chemoprevention with tamoxifen. It is reasonable to test for this single mutation when women undergo testing for BRCA1 and BRCA2.
摘要
2002年发现，CHEK2基因的1100delC突变是乳腺癌的一个病因。有该突变且有乳腺癌家族史的女性患乳腺癌的终生风险约为25%。这些女性是磁共振成像（MRI）筛查和他莫昔芬化学预防的合适对象。当女性进行BRCA1和BRCA2检测时，检测这一单一突变是合理的。
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