Ascertainment and anticipation in family studies. Hoh, J., Heitjan, D., F., Merette, C., & Ott, J. Hum Hered, 51(1-2):23-6., 2001.
abstract   bibtex   
Many human diseases show anticipation; that is, disease occurs earlier (or with greater severity) in successive generations. In a computer simulation, we assessed the degree of anticipation that one would expect to see in two-generation breast cancer families. Under reasonable assumed distributions for age at cancer onset, number of children, and mortality, we find a consistent earlier mean age at diagnosis in daughters than in mothers, but the same mean age at diagnosis in affected aunts and nieces. We compare these results with published pedigree data for familial breast cancer that show substantial anticipation in affected daughters compared to their mothers. We find that at least some anticipation is expected in human disease families even when the disease is stable and families are ascertained without obvious sampling bias. We further demonstrate that such anticipation is reduced when comparing affected children to the parents' affected siblings.
@article{
 title = {Ascertainment and anticipation in family studies},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Anticipation, Genetic,*Family Health,Adult,Age of Onset,Aged,Breast Neoplasms/*epidemiology/*genetics,Computer Simulation,Female,Human,Middle Age,Pedigree,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {23-6.},
 volume = {51},
 id = {89e7bff2-bab5-3d65-9643-89dd608f7bf4},
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 abstract = {Many human diseases show anticipation; that is, disease occurs earlier (or with greater severity) in successive generations. In a computer simulation, we assessed the degree of anticipation that one would expect to see in two-generation breast cancer families. Under reasonable assumed distributions for age at cancer onset, number of children, and mortality, we find a consistent earlier mean age at diagnosis in daughters than in mothers, but the same mean age at diagnosis in affected aunts and nieces. We compare these results with published pedigree data for familial breast cancer that show substantial anticipation in affected daughters compared to their mothers. We find that at least some anticipation is expected in human disease families even when the disease is stable and families are ascertained without obvious sampling bias. We further demonstrate that such anticipation is reduced when comparing affected children to the parents' affected siblings.},
 bibtype = {article},
 author = {Hoh, J and Heitjan, D F and Merette, C and Ott, J},
 journal = {Hum Hered},
 number = {1-2}
}
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