Ponz de Leon M
Dipartimento di Medicina Interna, Università di Modena, Italy.
Ital J Gastroenterol. 1996 May;28(4):232-45.
The purpose of this review is to analyze the role of genetic factors in the pathogenesis of human cancer, with particular attention to tumours of the digestive organs. Human neoplasms are defined as "sporadic" when there is no evidence of cancer among relatives besides the index case; "Familial" tumours are characterized by cancer aggregation in a given family, but without verticality or other features of mendelian (autosomal) transmission. In "Hereditary" tumours there is sufficient clinical and biologic evidence to suspect that genetic factors are the main event responsible for their development. Hereditary tumours have been associated with germ-line mutations of oncogenes or, more often, of tumour suppressor genes. More recently, a new category of cancer-related genes has been defined-the mutator genes-which are involved in the mechanisms of DNA repair. Among the various hereditary cancer syndromes, Hereditary non polyposis Colorectal Cancer (HNPCC or Lynch syndrome), Familial Adenomatous Polyposis (FAP) and related syndromes, Hereditary Breast tumours, Li-Fraumeni syndrome and Von Hippel-Lindau disease have been discussed in more detail. Besides purely scientific problems, many ethical and social aspects remain to be solved in hereditary cancer syndromes, and it is likely that their solution will require-in the years to come-a close collaboration between oncologists, geneticists and basic research workers.
本综述的目的是分析遗传因素在人类癌症发病机制中的作用，尤其关注消化器官肿瘤。当除索引病例外亲属中无癌症证据时，人类肿瘤被定义为“散发性”；“家族性”肿瘤的特征是在特定家族中癌症聚集，但无孟德尔（常染色体）遗传的垂直性或其他特征。在“遗传性”肿瘤中，有足够的临床和生物学证据怀疑遗传因素是其发生发展的主要原因。遗传性肿瘤与癌基因的种系突变有关，或更常见的是与肿瘤抑制基因的种系突变有关。最近，已定义了一类新的癌症相关基因——错配修复基因，它们参与DNA修复机制。在各种遗传性癌症综合征中，对遗传性非息肉病性结直肠癌（HNPCC或林奇综合征）、家族性腺瘤性息肉病（FAP）及相关综合征、遗传性乳腺肿瘤、李-佛美尼综合征和冯·希佩尔-林道病进行了更详细的讨论。除了纯粹的科学问题外，遗传性癌症综合征中仍有许多伦理和社会问题有待解决，而且很可能在未来几年，这些问题的解决将需要肿瘤学家、遗传学家和基础研究人员之间的密切合作。
