Arason A, Barkardóttir R B, Egilsson V
Department of Pathology, University Hospital of Iceland, Reykjavik.
Am J Hum Genet. 1993 Apr;52(4):711-7.
Seven families, selected for breast cancer segregation, have been analyzed for chromosome 17q12-q23 linkage to breast and ovarian cancer. In two of them, linkage is seen with most markers tested, increasing toward the most proximal region, but without informative recombinations above NM23. In the remaining families, no linkage is observed. Families with 17q linkage are not easily distinguished by clinical characteristics such as early onset (mean age at diagnosis < or = 45 years) or organs involved. In fact, the family with the highest lod scores (> or = 2.3) belongs to the "later onset" (> 45 years) category of families. Interestingly, prostatic cancer is the most frequent malignancy, after breast cancer, in the families that we studied (13 cases total, all metastasizing) and is especially prevalent in males presumed to carry the trait. Of 16 paternal carriers, 7 (44%) had developed prostatic cancer. Haplotype analysis in families with 17q linkage reveals two further prostatic cases as potential carriers. We propose that breast cancer genes may predispose to prostatic cancer in male carriers.
我们选取了七个与乳腺癌遗传分离相关的家族,对17号染色体q12 - q23区域与乳腺癌和卵巢癌的连锁关系进行了分析。其中两个家族与多数检测标记存在连锁关系,且越靠近近端区域连锁性越强,但在NM23之上没有信息性重组。在其余家族中未观察到连锁关系。具有17q连锁的家族不易通过诸如发病早(诊断时平均年龄≤45岁)或受累器官等临床特征来区分。实际上,对数优势比分(lod scores)最高(≥2.3)的家族属于“发病较晚”(>45岁)的家族类别。有趣的是,在我们研究的家族中,前列腺癌是仅次于乳腺癌的最常见恶性肿瘤(总共13例,均发生转移),并且在推测携带该性状的男性中尤为普遍。在16名父系携带者中,7名(44%)已患前列腺癌。对具有17q连锁的家族进行单倍型分析发现,另外两例前列腺癌病例可能为携带者。我们提出,乳腺癌基因可能使男性携带者易患前列腺癌。