Lynch H T, Fain P R, Golgar D, Albano W A, Mailliard J A, McKenna P
Cancer. 1981 Jun 1;47(11):2730-9. doi: 10.1002/1097-0142(19810601)47:11<2730::aid-cncr2820471132>3.0.co;2-8.
Family history of cancer was evaluated for 79 breast cancer probands from among a series of consecutively ascertained cancer patients undergoing treatment in the authors' Oncology clinic. Cancer prevalence for each family was quantified by using a statistic that accounts for variable size and age structure among families. To test the null hypothesis that cancer risk is independent of family membership, the distribution of this statistic for families in their original configuration was compared with the distributions observed when relatives were randomly assigned to families in 99 random permutations of family membership. The results indicated significant heterogeneity for cancer risk among relatives of breast cancer probands, which suggests that the isolation of high risk families can provide a meaningful resource for in-depth studies in breast cancer genetics. Using an objective criterion for selection of such families, high risk for early onset breast cancer was confirmed in a prospective follow-up study fof four families from the original resource.
作者肿瘤诊所对一系列连续确诊并接受治疗的癌症患者中的79名乳腺癌先证者的癌症家族史进行了评估。通过使用一种统计方法对每个家族的癌症患病率进行量化，该方法考虑了家族之间不同的规模和年龄结构。为了检验癌症风险与家族成员身份无关的零假设，将家族原始构成时该统计量的分布与在99次家族成员随机分配的随机排列中亲属被随机分配到家族时观察到的分布进行比较。结果表明，乳腺癌先证者亲属的癌症风险存在显著异质性，这表明分离出高风险家族可为乳腺癌遗传学的深入研究提供有意义的资源。通过使用选择此类家族的客观标准，在对原始资源中的四个家族进行的前瞻性随访研究中证实了早发性乳腺癌的高风险。
