家族性胰腺癌的早现遗传  

Anticipation in familial pancreatic cancer

作　　者：McFaul C. D. Greenhalf W. Earl J. 刘丽娜(译) 王顺涛(校) 

机构地区：[1]不详 [2]Department of Surgery, UCD Building,Doulby St, Liverpool L69 3GA, United Kingdom

出　　处：《世界核心医学期刊文摘（胃肠病学分册）》2006年第6期42-43,共2页Core Journals in Gastroenterology

摘　　要：Background: Previous studies of anticipation in familial pancreatic cancer have been small and subject to ascertainment bias. Our aim was to determine evidence for anticipation in a large number of European families. Patients and methods: A total of 1223 individuals at risk from 106 families (264 affected individuals) were investigated. Generation G3 was defined as the latest generation that included any individual aged over 39 years; preceding generations were then defined as G2 and G1. Results: With 80 affected child-parent pairs, the children died a median (interquartile range) of 10 (7, 14) years earlier. The median (interquartile range) age of death from pancreatic cancer was 70 (59, 77), 64 (57, 69), and 49 (44, 56) years for G1, G2, and G3, respectively. These indications of anticipation could be the result of bias. Truncation of Kaplan-Meier analysis to a 60 year period to correct for follow up time bias and a matched test statistic indicated significant anticipation (p = 0.002 and p < 0.001). To minimise bias further, an iterative analysis to predict cancer numbers was developed. No single risk category could be applied that accurately predicted cancer cases in every generation. Using three risk categories (low with no pancreatic cancer in earlier generations, high with a single earlier generation, and very high where two preceding generations were affected), incidence was estimated without significant error. Anticipation was independent of smoking. Conclusion: This study provides the first strong evidence for anticipation in familial pancreatic cancer and must be considered in genetic counselling and the commencement of secondary screening for pancreatic cancer.Background： Previous studies of anticipation in familial pancreatic cancer have been small and subject to ascertainment bias. Our aim was to determine evidence for anticipation in a large number of European families. Patients and methods： A total of 1223 individuals at risk from 106 families （264 affected individuals） were investigated. Generation G3 was defined as the latest generation that included any individual aged generations were then defined over 39 years; preceding as G2 and G1. Results： With 80 affected child-parent pairs, the children died a median （interquartih range） of 10 （7, 14） years earlier. The median （interquartile range） age of death from pancreatic cancer was 70 （59, 77）, 64 （57, 69）, and 49 （44, 56）years for G1, G2, and G3, respectively. These indications of anticipation could be the result of bias. Truncation of Kaplan-Meier analysis correct for follow up time bias and a to a 60 year period to matched test statistic indicated significant anticipation （p = 0. 002 and p 〈 0. 001 ）. To minimise bias further, an iterative analysis to predict cancer numbers was developed. No single risk category could be applied that accurately predicted cancer cases in every generation. Using three risk categories （low with no pancreatic cancer in earlier generations, high with a single earlier generation, and very high where two preceding generations were affected）, incidence was estimated without significant error. Anticipation was independent of smoking.

关 键 词：家族性胰腺癌 早现遗传 肿瘤患者 危险因素 显著性差异 发病率 遗传研究 随访时间 统计分析 

分 类 号：R735.9[医药卫生—肿瘤] R742.2[医药卫生—临床医学]