双侧乳腺癌家族中乳腺癌的遗传流行病学调查。II. 连锁分析。

A genetic epidemiologic investigation of breast cancer in families with bilateral breast cancer. II. Linkage analysis.

作者信息

Goldstein A M, Haile R W, Spence M A, Sparkes R S, Paganini-Hill A

机构信息

Division of Epidemiology, School of Public Health, University of California, Los Angeles.

出版信息

Clin Genet. 1989 Aug;36(2):100-6. doi: 10.1111/j.1399-0004.1989.tb03171.x.

DOI:10.1111/j.1399-0004.1989.tb03171.x

PMID:2766568

Abstract

We conducted genetic linkage analyses of breast cancer in 20 pedigrees, each having at least one case of bilateral breast cancer diagnosed before 50 years of age. We tested for linkage using inheritance models from previous segregation analyses, incorporating differences in risk based on menopausal status into the analyses. We tested for heterogeneity by predividing the data set based on the interval between diagnoses of the proband's two primaries (less than 1 year (synchronous) versus at least 2 years (asynchronous], and on the histological types of breast cancer in the pedigrees. Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses. A maximum lod score of +1.01 (at theta = 0.001) between ACP1 and a breast cancer susceptibility locus was seen in the asynchronous all-cases subsample.

摘要

我们对20个家系进行了乳腺癌的遗传连锁分析，每个家系至少有一例50岁前确诊的双侧乳腺癌。我们使用先前分离分析中的遗传模型进行连锁测试，并将基于绝经状态的风险差异纳入分析。我们根据先证者两次原发性肿瘤诊断之间的间隔时间（少于1年（同步）与至少2年（异步））以及家系中乳腺癌的组织学类型对数据集进行预先划分，以测试异质性。在一些不同的连锁分析中，可以排除乳腺癌与ABO、GC、GPT、MNS和PGM1之间的紧密连锁。在异步所有病例子样本中，ACP1与乳腺癌易感基因座之间的最大对数优势得分为+1.01（在θ=0.001时）。