Gregory H, Schofield A, de Silva D, Semper J, Milner B, Allan L, Haites N
Department of Medical Genetics, University of Aberdeen, Forresterhill, UK.
J Med Genet. 1996 Mar;33(3):187-92. doi: 10.1136/jmg.33.3.187.
Ovarian cancer is the fifth most common malignancy in women in the UK. Patients with a family history including ovarian cancer make up nearly 15% of family cancer referrals to the Genetic Clinic in Aberdeen. To date, only one pedigree has been suitable for linkage studies, which has enabled us to target screening more accurately at those people at highest risk. Following discovery of a strong candidate for the BRCA1 gene, direct mutation testing may soon be possible. People who seek testing will require further counselling. Therefore we anticipate an increased demand on both clinical and laboratory resources, but more accurate ascertainment of high risk subjects should lead to more appropriate targeting of screening services.
卵巢癌是英国女性中第五大常见恶性肿瘤。有卵巢癌家族病史的患者占阿伯丁遗传诊所家庭癌症转诊病例的近15%。迄今为止，只有一个家系适合进行连锁研究，这使我们能够更准确地针对那些风险最高的人群进行筛查。在发现BRCA1基因的一个强有力候选基因后，直接突变检测可能很快就能实现。寻求检测的人将需要进一步的咨询。因此，我们预计临床和实验室资源的需求都会增加，但对高危人群更准确的确诊应能使筛查服务的目标更加合理。
