Müller H, Scott R J
Abteilung für Medizinische Genetik, Universitätkinderklinik Basel.
Ther Umsch. 1995 Dec;52(12):826-34.
Several types of hereditary cancer can be prevented from progressing to advanced stages by regular surveillance of the person at risk and hence by the early treatment of a developing neoplasia. Genetic counselling of such patients and their relatives is therefore an important task whose value often remains unrecognized. This is especially true for the common forms of hereditary cancer such as breast and colorectal cancer, which aggregate in up to 5% of all patients according to the rules of autosomal-dominant inheritance. Preventive measures are particularly promising in the case of familial cancer because persons at risk are motivated to seek medical help. Genetic counselling is a multifaceted process and involves more than an accurate diagnosis and risk estimate. The counseled patient expects and deserves an open and reasonable answer to his questions about the implications of his/her cancer predisposition or his family history. Accurate diagnosis of the underlying susceptibility is the cornerstone of genetic counselling because most cancers seem to have multiple causes. Different genes located on different chromosomes can independently give rise to the same malignancy. Besides heterogeneity, presymptomatic testing for inherited susceptibilities to cancer raises many issues including therapy, access, intense anxiety, and discrimination.
通过对有风险的个体进行定期监测，从而对正在发展的肿瘤进行早期治疗，几种类型的遗传性癌症可以预防发展到晚期阶段。因此，对此类患者及其亲属进行遗传咨询是一项重要任务，但其价值常常未得到认可。对于常见的遗传性癌症形式，如乳腺癌和结直肠癌，情况尤其如此，根据常染色体显性遗传规律，在所有患者中，这些癌症的聚集率高达5%。在家族性癌症的情况下，预防措施尤其有前景，因为有风险的个体有动力寻求医疗帮助。遗传咨询是一个多方面的过程，不仅仅涉及准确的诊断和风险评估。接受咨询的患者期望并理应得到关于其癌症易感性或家族病史影响的问题的坦诚且合理的回答。对潜在易感性的准确诊断是遗传咨询的基石，因为大多数癌症似乎有多种病因。位于不同染色体上的不同基因可独立引发相同的恶性肿瘤。除了异质性之外，对遗传性癌症易感性进行症状前检测还引发了许多问题，包括治疗、获取途径、强烈焦虑和歧视。
