Molecular genetics of hereditary non-polyposis colorectal cancer (HNPCC)

被引:4
作者
Cama, A
Genuardi, M
Guanti, G
Radice, P
Varesco, L
机构
[1] UNIV GABRIELE DANNUNZIO, CATTEDRA PATOL GEN, CHIETI, ITALY
[2] UNIV CATTOLICA SACRO CUORE, IST GENET MED, ROME, ITALY
[3] UNIV BARI, CATTEDRA GENET MED, CASTELLANZA, BA, ITALY
[4] IRCCS DE BELLIS, CASTELLANZA, BA, ITALY
[5] IST NAZL TUMORI, DIV ONCOL SPERIMENTALE A, I-20133 MILAN, ITALY
[6] IST NAZL RIC CANC, LAB CANCEROGENESI CHIM, I-16132 GENOA, ITALY
来源
TUMORI JOURNAL | 1996年 / 82卷 / 02期
关键词
HNPCC; genetic instability; DNA repair; DNA mutations; molecular diagnosis;
D O I
10.1177/030089169608200206
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The story of the molecular genetics of HNPCC is one of astonishingly rapid achievements. in just 16 months, from May 1993 to September 1994, four different genes, namely hMSH2, hMLH1, hPMS1 and hPMS2 have been identified and demonstrated to be associated with the disease, Their cloning was facilitated by the finding that tumor cells in HNPCC patients display a hypermutability of DNA short tandem repeats (microsatellite instability). In fact, HNPCC associated genes are the human counterparts of genetic elements known to control the fidelity of DNA replication in lower organisms, So far, more than 50 germline mutations of hMSH2 and hMLH1 genes have been reported in HNPCC kindreds. In addition, somatic mutations have been documented in hereditary as well as sporadic cancers, Unfortunately, the molecular diagnosis of HNPCC is hampered by the lack of mutational ''hot spots'' and of clearly defined genotype-phenotype correlations and different: screening methods are to be employed for the analysis of affected and at-risk individuals.
引用
收藏
页码:122 / 135
页数:14
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