Sinilnikova Olga M, Mazoyer Sylvie, Bonnardel Colette, Lynch Henry T, Narod Steven A, Lenoir Gilbert M
Plate-forme Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon cedex 08, 69373, France.
Fam Cancer. 2006;5(1):15-20. doi: 10.1007/s10689-005-2571-7.
Over the last four decades, Henry Lynch has collected pedigrees and samples from high risk breast and/or ovarian cancer families, generating a unique resource for the study of breast cancer susceptibility. These families have made a major contribution to increasing our knowledge in the cancer genetic susceptibility field, allowing the discovery of a genetic association between breast and ovarian cancer predisposition, contributing to the mapping of the BRCA1 and BRCA2 genes, advancing the idea of the existence of other breast cancer susceptibility genes, allowing the evaluation of BRCA-associated cancer risks and psychosocial aspects of BRCA testing and so on. Ten years after the cloning of BRCA1 and BRCA2, we report the current status of these families and compare the observed BRCA1/2 mutation detection rate with the estimations obtained by linkage analysis of the Breast Cancer Linkage Consortium families.
在过去的四十年里，亨利·林奇收集了来自高危乳腺癌和/或卵巢癌家族的系谱和样本，为乳腺癌易感性研究创造了独特的资源。这些家族对增进我们在癌症遗传易感性领域的知识做出了重大贡献，使得发现了乳腺癌和卵巢癌易感性之间的遗传关联，有助于绘制BRCA1和BRCA2基因图谱，推动了存在其他乳腺癌易感基因这一观点，能够评估与BRCA相关的癌症风险以及BRCA检测的心理社会方面等等。在BRCA1和BRCA2克隆十年后，我们报告这些家族的当前状况，并将观察到的BRCA1/2突变检测率与通过乳腺癌连锁协会家族连锁分析获得的估计值进行比较。
