Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates From a UK Family Genetic Register Service
Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates From a UK Family Genetic Register Service
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DOI：
10.1002/ajmg.a.33139
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发表时间：
2010-02-01
影响因子：
2
通讯作者：
Lalloo, F.
中科院分区：
文献类型：
--
作者：
Evans, D. G.;Howard, E.;Lalloo, F.
常染色体显性遗传易患肿瘤综合征是一个重大的健康问题，通过将癌症监测登记与基于遗传登记（GR）的方法相结合，可以进行流行病学研究。了解这些疾病的发生频率是适当分配卫生资源的基础。1989年和1990年在英格兰西北部的曼彻斯特地区建立了五种肿瘤易发综合征的GRs。将家庭中受影响个体的出生日期映射到区域出生率，可以估计出生发病率、疾病流行率和新生突变率。发病频率排序为1型神经纤维瘤病（NF1）： 1 / 4,560；家族性腺瘤性息肉病（FAP）：1 / 18976；瘤状基底细胞癌[Gorlin综合征（GS）]: 1 / 30,827；2型神经纤维瘤病（NF2） 1 56,161例；von Hippel Lindau (VHL) 1例，91111例。出生发生率的最佳估计是：1 / 2,699；1 / 8619；14,963分之一，33,000分之一；和42987分之一。新生突变的比例为：42% (NF1)；16% (FAP);26% (GS);56% (NF2);21% （VHL）。NF1、NF2、FAP和VHL的估计与先前的估计一致，我们提供了GS的出生发生率和新生突变率的初步估计。(C) 2010 Wiley-Liss, Inc。
Autosomal dominantly inherited tumor-prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)-based approach. Knowledge of the frequency of the conditions provides a basis for appropriate health-resources allocations. GRs for five tumor-prone syndromes were established in the Manchester region of North West England in 1989 and 1990. Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates. Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP):1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111. Best estimates for birth incidence were: 1 in 2,699;1 in 8,619;1 in 14,963,1 in 33,000; and 1 in 42,987, respectively. The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL). Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS. (C) 2010 Wiley-Liss, Inc.