Berg K
Institute of Medical Genetics, University of Oslo, Norway.
Princess Takamatsu Symp. 1987;18:283-94.
Although genetic factors may be essential in only a fraction of common cancers, it is important to identify individuals who merit genetic evaluation. The occurrence of cancer in an individual under one of the following circumstances may indicate an increased susceptibility to malignancy as a result of predisposing factors: cancer in both of paired organs, thought not to be the result of metastasis; more than one focus of cancer in a single organ (multifocal tumors); histologically similar malignant neoplasms in different parts of the same organ system; two histologically distinct cancers (multiple primary malignancies); cancer at an atypical age; at an atypical site; in the usually less often affected sex; associated with birth defects; associated with precursor lesions; in a person with immunodeficiency; or in a patient with one of the 200 Mendelian disorders where cancer is part of the clinical picture or a frequent complication. At risk are first-degree relatives of people who meet any of the above criteria. Also, a person should be considered at risk if two first-degree relatives had any form of cancer. A strategy to control cancers utilizing genetic knowledge should include such measures as: genetic counseling of individuals at risk for specific cancers because of a congenital or genetic disease in themselves or their relatives, or because of the pattern of cancer occurrence in the family; prenatal diagnosis for families with genetic conditions that predispose to cancer and are amenable to prenatal testing; surveillance of high-risk individuals to detect early manifestations of new or recurrent disease; prophylactic removal of the target organ or tissue in appropriate cases; limiting exposure of high-risk individuals to known carcinogens or supplementing diets of high-risk individuals with anticarcinogens; and educational and administrative measures to promote practical application of genetic knowledge and to increase awareness of genetic factors in the etiology of cancer. Far from all individuals who are exposed to carcinogenic factors contract cancer, and in another common disease, atherosclerosis, it is well known that there is genetically determined variation in response to environmental or lifestyle factors that can cause disease. The emerging fields of human ecogenetics and predictive testing together with research progress in medical and molecular genetics are likely to improve greatly the possibilities for utilizing genetic knowledge to control cancer.
虽然遗传因素可能仅在一小部分常见癌症中起关键作用,但识别那些值得进行基因评估的个体非常重要。在以下任何一种情况下个体患癌,可能表明由于易感因素导致对恶性肿瘤的易感性增加:双侧成对器官患癌(并非转移所致);单个器官内有多个癌灶(多灶性肿瘤);同一器官系统不同部位出现组织学相似的恶性肿瘤;两种组织学不同的癌症(多原发性恶性肿瘤);在非典型年龄患癌;在非典型部位患癌;在通常较少受影响的性别中患癌;与出生缺陷相关;与癌前病变相关;在免疫缺陷者中患癌;或在患有200种孟德尔疾病之一的患者中患癌,其中癌症是临床症状的一部分或常见并发症。符合上述任何标准的人的一级亲属也处于风险之中。此外,如果两个一级亲属患有任何形式的癌症,那么此人也应被视为处于风险之中。利用基因知识控制癌症的策略应包括以下措施:对因自身或亲属患有先天性或遗传性疾病,或因家族癌症发生模式而有特定癌症风险的个体进行遗传咨询;对有易患癌症且适合进行产前检测的遗传疾病家族进行产前诊断;对高危个体进行监测,以发现新疾病或复发性疾病的早期表现;在适当情况下预防性切除靶器官或组织;限制高危个体接触已知致癌物,或为高危个体补充抗癌剂;以及采取教育和行政措施,以促进基因知识的实际应用,并提高对癌症病因中遗传因素的认识。远非所有接触致癌因素的个体都会患癌,在另一种常见疾病动脉粥样硬化中,众所周知,对可导致疾病的环境或生活方式因素的反应存在基因决定的差异。人类生态遗传学和预测性检测的新兴领域,以及医学和分子遗传学的研究进展,可能会大大提高利用基因知识控制癌症的可能性。