Risk estimation and screening in families of patients with medullary thyroid carcinoma.
Risk estimation and screening in families of patients with medullary thyroid carcinoma.
复制标题
甲状腺髓样癌患者家属的风险评估和筛查。
DOI：
10.1016/s0140-6736(88)91191-9
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Easton,DF
中科院分区：
文献类型：
--
作者：
Ponder,BA;Ponder,MA;Coffey,R;Pembrey,ME;Gagel,RF;Telenius-Berg,M;Semple,P;Easton,DF
许多多发性内分泌瘤2a型（MEN 2a）的基因携带者即使到老年也不表现出这种疾病。因此，甲状腺髓样癌患者的阴性家族史不能可靠地排除家族性疾病。报告了MEN 2a基因在给定年龄时临床表现或通过刺激降钙素筛查可检测到的概率数据。这些概率可用于计算个体风险并指导筛查。
Many gene carriers for multiple endocrine neoplasia type 2a (MEN 2a) do not manifest the disease, even into old age. Thus, a negative family history in a patient presenting with medullary thyroid carcinoma does not reliably exclude familial disease. Data are reported for the probability that the MEN 2a gene will either have manifested clinically or be detectable by stimulated calcitonin screening by a given age. These probabilities can be used to calculate individual risks and to guide screening.