Levine D A, Boyd J
Department of Surgery and Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.
Cancer Res. 2001 Feb 1;61(3):908-11.
Our objectives were to test whether polymorphic variation in the (CAG)n repeat of the androgen receptor (AR) gene affects penetrance of germ-line BRCA mutations for ovarian cancer or age of diagnosis for ovarian cancer. Using a case-series study design, 179 consecutive Ashkenazi Jewish ovarian cancer patients were genotyped for AR repeat length and BRCA mutation status. There was no association between AR repeat length and presence of a BRCA mutation. However, ovarian cancer patients from both groups (with or without BRCA mutation) who carried a short AR allele were diagnosed an average of 7.2 (95% confidence interval, 2.3-12.1) years earlier than patients who did not carry a short allele (P = 0.004). These data suggest that AR allele length affects age of diagnosis of ovarian cancer, irrespective of BRCA mutation status.
我们的目标是测试雄激素受体（AR）基因（CAG）n重复序列中的多态性变异是否会影响遗传性BRCA突变对卵巢癌的外显率或卵巢癌的诊断年龄。采用病例系列研究设计，对179例连续的阿什肯纳兹犹太卵巢癌患者进行AR重复长度和BRCA突变状态的基因分型。AR重复长度与BRCA突变的存在之间没有关联。然而，两组（有或无BRCA突变）携带短AR等位基因的卵巢癌患者的诊断时间比未携带短等位基因的患者平均早7.2年（95%置信区间，2.3 - 12.1）（P = 0.004）。这些数据表明，无论BRCA突变状态如何，AR等位基因长度都会影响卵巢癌的诊断年龄。
