Genetic analysis of breast cancer in the cancer and steroid hormone study.
Genetic analysis of breast cancer in the cancer and steroid hormone study.
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发表时间：
1991-02
影响因子：
9.8
通讯作者：
E. Claus;N. Risch;W. Thompson
中科院分区：
文献类型：
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作者：
E. Claus;N. Risch;W. Thompson
美国疾病控制中心进行了一项大规模基于人群的病例对照研究，对乳腺癌的家族风险进行了调查。该数据集基于4730例经组织学确诊、年龄在20至54岁的乳腺癌病例，以及4688例对照。对照是根据地理区域和5岁年龄组与病例进行频数匹配的，其中包括通过对病例和对照进行访谈获得的母亲和姐妹患乳腺癌的家族史。遗传模型的分离分析和拟合优度检验为存在一种罕见的常染色体显性等位基因（q = 0.0033）提供了证据，这种等位基因会导致乳腺癌易感性增加。基因型对乳腺癌风险的影响被证明是女性年龄的函数。尽管与非携带者相比，该等位基因的携带者在所有年龄似乎都面临更大的风险，但年龄特异性风险比在年轻时最大，此后稳步下降。在20 - 29岁的病例中，预计携带该等位基因的病例比例最高（36%）。在80岁及以上的病例中，这一比例逐渐降至1%。携带易感等位基因的女性一生患乳腺癌的累积风险预计较高，约为92%，而非携带者一生的累积风险估计约为10%。
The familial risk of breast cancer is investigated in a large population-based, case-control study conducted by the Centers for Disease Control. The data set is based on 4,730 histologically confirmed breast cancer cases aged 20 to 54 years and on 4,688 controls who were frequency matched to cases on the basis of both geographic region and 5-year categories of age, and it includes family histories, obtained through interviews of cases and controls, of breast cancer in mothers and sisters. Segregation analysis and goodness-of-fit tests of genetic models provide evidence for the existence of a rare autosomal dominant allele (q = .0033) leading to increased susceptibility to breast cancer. The effect of genotype on the risk of breast cancer is shown to be a function of a woman's age. Although, compared with noncarriers, carriers of the allele appear to be at greater risk at all ages, the ratio of age-specific risks is greatest at young ages and declines steadily thereafter. The proportion of cases predicted to carry the allele is highest (36%) among cases aged 20-29 years. This proportion gradually decreases to 1% among cases aged 80 years or older. The cumulative lifetime risk of breast cancer for women who carry the susceptibility allele is predicted to be high, approximately 92%, while the cumulative lifetime risk for noncarriers is estimated to be approximately 10%.