Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G
Queensland Institute of Medical Research, Brisbane, Australia.
Am J Med Genet. 1994 Apr 15;50(3):282-90. doi: 10.1002/ajmg.1320500312.
One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recent English survey by Evans et al. [J Med Genet 30:460-464, 1993]. The frequencies of most manifestations are similar. However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented simplex cases, and, accordingly, the apparent new mutation rate is surprisingly high (14-81%) given the lack of impact of NBCCS on reproductive capabilities. There is some evidence to suggest that this may be attributable to anticipation.
本研究报告了118例痣样基底细胞癌综合征（NBCCS，戈林综合征或基底细胞痣综合征）。为了确定澳大利亚所有受影响的家庭，我们检查了迄今为止最大的系列病例。列出了相关并发症的相对频率，并与埃文斯等人最近的英国调查结果进行了比较[《医学遗传学杂志》30:460 - 464，1993年]。大多数表现的频率相似。然而，一个主要差异是，在澳大利亚人群中，多发性基底细胞癌在较早年龄就会出现，这可能反映了对紫外线辐射的更大暴露。在确定的64个家庭中，37个代表单纯病例，因此，鉴于NBCCS对生殖能力没有影响，明显的新突变率出奇地高（14 - 81%）。有一些证据表明，这可能归因于遗传早现。
