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头颈部肿瘤的遗传学

Genetics of tumors of the head and neck.

作者信息

Knudson A

机构信息

Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pa. 19111.

出版信息

Arch Otolaryngol Head Neck Surg. 1993 Jul;119(7):735-7. doi: 10.1001/archotol.1993.01880190031006.

Abstract

Two uncommon tumors of the head and neck first revealed primary roles for two classes of cancer genes (oncogenes, tumor suppressor genes) in the origin of human cancer. In Burkitt's lymphoma the initiating event is a chromosomal translocation that leads to unregulated expression of an oncogene (MYCC), whereas retinoblastoma involves loss of function of both copies of a tumor suppressor gene (RB1). In osteosarcoma the RB1 gene is often affected, as is the gene (TP53) that codes for the p53 protein. TP53 is frequently mutated in carcinomas of the head and neck, as in one of the ras oncogenes. Multiple genetic changes typify carcinomas. Some carcinomas of the head and neck contain one of the human papilloma viruses that produce proteins that combine with and inactivate p53 and pRB proteins, rendering mutations in these genes unnecessary.

摘要

头颈部的两种罕见肿瘤首次揭示了两类癌症基因(癌基因、肿瘤抑制基因)在人类癌症起源中的主要作用。在伯基特淋巴瘤中,起始事件是染色体易位,导致癌基因(MYCC)表达失控,而视网膜母细胞瘤则涉及肿瘤抑制基因(RB1)两个拷贝的功能丧失。在骨肉瘤中,RB1基因常受影响,编码p53蛋白的基因(TP53)也是如此。TP53在头颈部癌中经常发生突变,就像其中一种ras癌基因一样。多种基因变化是癌症的典型特征。一些头颈部癌含有人类乳头瘤病毒中的一种,该病毒产生的蛋白质会与p53和pRB蛋白结合并使其失活,从而无需这些基因发生突变。

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