NEVOID BASAL-CELL CARCINOMA SYNDROME - REVIEW OF 118 AFFECTED INDIVIDUALS
NEVOID BASAL-CELL CARCINOMA SYNDROME - REVIEW OF 118 AFFECTED INDIVIDUALS
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DOI：
10.1002/ajmg.1320500312
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发表时间：
1994-04-15
期刊：
影响因子：
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通讯作者：
CHENEVIXTRENCH, G
中科院分区：
文献类型：
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作者：
SHANLEY, S;RATCLIFFE, J;CHENEVIXTRENCH, G
本文报告118例痣样基底细胞癌综合征（NBCCS，Gorlin's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，我们审查了迄今为止最大的系列。本文列出了相关并发症的相对发生率，并与Evans等最近的英国调查结果进行了比较[J Med Genet 30：460-464，1993]。大多数表现的频率是相似的。然而，一个主要的区别是，多发性基底细胞癌在澳大利亚人口中从较早的年龄开始显现，这可能反映了更多的紫外线辐射暴露。在确定的64个家庭中，37个代表单纯病例，因此，鉴于NBCCS对生殖能力缺乏影响，明显的新突变率令人惊讶地高（14-81%）。有一些证据表明，这可能归因于预期。(C)1994 Wiley-Liss，Inc.
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. (C) 1994 Wiley-Liss, Inc.