Merino Diana, Malkin David
Division of Hematology/Oncology, Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, ON, Canada.
Subcell Biochem. 2014;85:1-16. doi: 10.1007/978-94-017-9211-0_1.
The roles of p53 as "guardian of the genome" are extensive, encompassing regulation of the cell cycle, DNA repair, apoptosis, cellular metabolism, and senescence - ultimately steering cells through a balance of death and proliferation. The majority of sporadic cancers exhibit loss of p53 activity due to mutations or deletions of TP53, and alterations in its signaling pathway. Germline TP53 mutations have been identified in a group of families exhibiting a rare but highly penetrant familial cancer syndrome, called the Li-Fraumeni syndrome (LFS). Between 60-80% of 'classic' LFS families carry mutant Trp53. The most frequent cancers observed are premenopausal breast cancer, bone and soft-tissue sarcomas, adrenal cortical carcinomas, and brain tumors. Penetrance is nearly 100% by age 70. Although TP53 is currently the only validated susceptibility locus recognized for LFS, recent studies have focused on the identification of genetic modifiers that may explain the wide phenotypic variability observed in LFS patients. Analyses of single nucleotide polymorphisms (SNPs), genome-wide copy number and telomere length have provided greater insight into the potential genetic modifiers of LFS. Moreover, the study of Trp53 mutant heterozygous mouse models has elucidated novel functions of p53, and offers insight into the mechanisms governing tumorigenesis in LFS. The key findings outlined in this chapter provide an overview of the molecular basis of LFS and the role of p53 in this unique heritable cancer syndrome.
p53作为“基因组守护者”的作用广泛,包括调节细胞周期、DNA修复、细胞凋亡、细胞代谢和衰老——最终通过细胞死亡和增殖的平衡来引导细胞。大多数散发性癌症由于TP53的突变或缺失及其信号通路的改变而表现出p53活性丧失。在一组表现出一种罕见但高度外显的家族性癌症综合征(称为李-弗劳梅尼综合征,LFS)的家族中,已鉴定出种系TP53突变。60%-80%的“典型”LFS家族携带Trp53突变。观察到的最常见癌症是绝经前乳腺癌、骨肉瘤和软组织肉瘤、肾上腺皮质癌和脑肿瘤。到70岁时,外显率接近100%。尽管TP53目前是LFS唯一被认可的有效易感基因座,但最近的研究集中在鉴定可能解释LFS患者中观察到的广泛表型变异性的遗传修饰因子。对单核苷酸多态性(SNP)、全基因组拷贝数和端粒长度的分析为LFS潜在的遗传修饰因子提供了更深入的见解。此外,对Trp53突变杂合小鼠模型的研究阐明了p53的新功能,并为LFS肿瘤发生机制提供了见解。本章概述的关键发现提供了LFS分子基础以及p53在这种独特的遗传性癌症综合征中的作用的概述。