Abstract
The study has several strengths including its large sample size of 33,008 participants with a high proportion of family history (15.2% having an affected first-degree relative), collection of data on known risk factors and detailed family history, and pathologically confirmed esophageal cancer diagnoses. [...]the familial risk ratio increased to 4.05 (albeit with wide confidence intervals) if the first-degree relative was diagnosed <35 years, and decreased with the increasing of diagnosed age of the relative. The study collected data on several known risk factors including sex, smoking, and alcohol consumption and adjusted for them in the analysis. Segregation analyses can be used to develop cancer risk models for identifying high-risk individuals based on multigenerational family history, genotypes, and other factors, and a successful example is the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm for estimating a woman's future risk of developing breast cancer.
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1 Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC 3053, Australia; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3051, Australia
2 Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC 3053, Australia