Genetic anticipation in BRCA1/2 families after controlling for ascertainment bias and cohort effect

摘要

BackgroundGenetic anticipation, the earlier onset of disease in successive generations, has been reported in hereditary breast and ovarian cancer syndrome (HBOC), but little is known about its underlying mechanisms. Ascertainment bias is a reason that has been suggested in previous studies. Likewise, cohort effect, which may be due to environmental factors, can be misinterpreted as genetic anticipation.