Lynch H T, Fusaro R M, Lynch J
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, NE 68178, USA.
Cancer Detect Prev. 1995;19(3):219-33.
Primary genetic factors play a major etiologic role in approximately 5% to 10% of the total cancer burden. Since the bulk of hereditary forms of cancer lack premonitory physical stigmata of cancer risk, a well-orchestrated family history is mandatory for establishing a hereditary cancer syndrome diagnosis. Knowledge of the natural history of the particular hereditary form of cancer will aid the physician in the development and implementation of highly targeted surveillance strategies. Indeed, specific natural history features of cancer, particularly early age onset and multiple primary cancer excess, characterize the more than 200 mendelian inherited cancer syndromes. The veritable explosive developments in molecular biology now enable the identification of germline mutations so that, in certain hereditary cancers, a simple blood test will enable the physician to determine the cancer destiny of patients carrying the particular germline mutation.
原发性遗传因素在所有癌症负担中约占5%至10%，起着主要的病因学作用。由于大多数遗传性癌症缺乏癌症风险的前期体征，因此精心编排的家族史对于确立遗传性癌症综合征诊断至关重要。了解特定遗传性癌症的自然病史将有助于医生制定和实施高度针对性的监测策略。事实上，癌症的特定自然病史特征，尤其是发病年龄早和多发原发性癌症过多，是200多种孟德尔遗传性癌症综合征的特征。分子生物学的迅猛发展如今能够识别种系突变，因此，在某些遗传性癌症中，一项简单的血液检测就能让医生确定携带特定种系突变患者的癌症发病情况。
