Lindblom A, Skoog L, Rotstein S, Werelius B, Larsson C, Nordenskjöld M
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Cancer Res. 1993 Sep 15;53(18):4356-61.
Three loci have been implicated in the etiology of familial breast cancer; the BRCA1 locus on 17q, the p53 gene on 17p, and the androgen receptor gene on the X chromosome. However, it has been estimated that in approximately 50% of all breast cancer families the predisposing genetic defect is not linked to any of these three loci. In an attempt to identify chromosomal regions harboring putative breast cancer genes we performed allelotyping in 82 familial breast carcinomas. Polymorphic markers representing 45 different loci were analyzed and the most frequently involved chromosomal arms were 8p, 16q, 17p, 17q, and 19p.
三个基因座与家族性乳腺癌的病因有关；位于17号染色体长臂的BRCA1基因座、位于17号染色体短臂的p53基因以及位于X染色体上的雄激素受体基因。然而，据估计，在所有乳腺癌家族中，约有50%的家族性遗传缺陷与这三个基因座中的任何一个都没有关联。为了确定含有假定乳腺癌基因的染色体区域，我们对82例家族性乳腺癌进行了等位基因分型。分析了代表45个不同基因座的多态性标记，最常涉及的染色体臂为8号染色体短臂、16号染色体长臂、17号染色体短臂、17号染色体长臂和19号染色体短臂。
