Steichen-Gersdorf E, Gallion H H, Ford D, Girodet C, Easton D F, DiCioccio R A, Evans G, Ponder M A, Pye C, Mazoyer S
Department of Pathology, University of Cambridge.
Am J Hum Genet. 1994 Nov;55(5):870-5.
In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.
在一项针对九个患有“特定部位”卵巢癌的家族的研究中（标准：三例或更多例上皮性卵巢癌，且无50岁之前诊断出乳腺癌的病例），我们获得了与位于17q12 - 21的乳腺癌 - 卵巢癌易感基因BRCA1存在连锁关系的证据。如果假设这些家族中的癌症风险仅限于卵巢，与BRCA1连锁的家族比例的最佳估计值为0.78（95%置信区间为0.32 - 1.0）。如果假设对乳腺癌和卵巢癌均有易感性，连锁的比例为1.0（95%置信区间为0.46 - 1.0）。家族性特定部位卵巢癌与BRCA1的连锁表明在这类家族中进行预测性检测的可能性；然而，这仅适用于那些与BRCA1连锁证据确凿的家族。
