Testing for CHEK2 in the cancer genetics clinic: ready for prime time?

被引：43
作者：
Narod, S. A. [1 ]
机构：
[1] Womens Coll Res Inst, Toronto, ON M5G 1N8, Canada
来源：
CLINICAL GENETICS | 2010年 / 78卷 / 01期
关键词：
CHEK2; breast cancer; CHEK2-POSITIVE BREAST CANCERS; COLORECTAL-CANCER; TUMOR CHARACTERISTICS; 1100DELC MUTATION; SUSCEPTIBILITY GENES; HEREDITARY BREAST; FOUNDER MUTATIONS; INCREASED RISK; EARLY-ONSET; CHEK2-ASTERISK-1100DELC;
D O I：
10.1111/j.1399-0004.2010.01402.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：1 / 7
页数：7
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