外显率
生物
癌症
遗传学
乳腺癌
渗透剂(生化)
癌变
生物信息学
基因
表型
生物技术
作者
Rebecca Nagy,Kevin Sweet,Charis Eng
出处
期刊:Oncogene
[Springer Nature]
日期:2004-08-23
卷期号:23 (38): 6445-6470
被引量:317
标识
DOI:10.1038/sj.onc.1207714
摘要
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Approximately 5–10% of all cancers are inherited, the majority in an autosomal dominant manner with incomplete penetrance. While this is a small fraction of the overall cancer burden worldwide, the molecular genetic discoveries that have resulted from the study of families with heritable cancer have not only changed the way these families are counselled and managed, but have shed light on molecular regulatory pathways important in sporadic tumour development as well. In this review, we consider 10 of the more highly penetrant cancer syndromes, with emphasis on those predisposing to breast, colon, and/or endocrine neoplasia. We discuss the prevalence, penetrance, and tumour spectrum associated with these syndromes, as well as their underlying genetic defects.
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