Penetrance rate estimation in autosomal dominant conditions

Genet Mol Biol. 2012 Jul;35(3):583-8. doi: 10.1590/S1415-47572012005000051. Epub 2012 Aug 2.


Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.

Keywords: genetic counseling; maximum likelihood method; penetrance rate; recurrence risks.