Williams W R, Anderson D E
Genet Epidemiol. 1984;1(1):7-20. doi: 10.1002/gepi.1370010104.
An investigation of the genetic epidemiology of breast cancer involving complex segregation analysis of 200 breast cancer pedigrees of Danish extraction is presented. The observed distribution of breast cancer is compatible with transmission of an autosomal-dominant gene with no evidence for residual family resemblance. The gene frequency of the abnormal allele is 0.00756, and the displacement between the homozygous genotype means is 1.695. The gene frequency accounts for a significant proportion of breast cancer in young women, whereas by an advanced age a majority (87%) of affected women are phenocopies. Genetic modeling of other breast cancer families and results of linkage studies are reviewed.
本文介绍了一项针对乳腺癌遗传流行病学的调查，该调查对200个丹麦裔乳腺癌家系进行了复杂的分离分析。观察到的乳腺癌分布情况与常染色体显性基因的传递相符，没有证据表明存在残余的家族相似性。异常等位基因的基因频率为0.00756，纯合基因型均值之间的差异为1.695。该基因频率在年轻女性乳腺癌中占相当大的比例，而到老年时，大多数（87%）受影响的女性为表型模拟。文中还综述了其他乳腺癌家系的遗传模型及连锁研究结果。
