Definition: Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. For adult-onset diseases, penetrance is usually described by the individual carrier's age, sex, and organ site. For example, the penetrance for breast cancer in female carriers of BRCA1 pathogenic variants is often quoted by age 50 years and by age 70 years. GeneticsHealth professional

Definition: Describes how likely it is that a person who has a certain disease-causing mutation (change) in a gene will show signs and symptoms of the disease. Not everyone who has the mutation will develop the disease. For example, some people who have a BRCA1 or BRCA2 gene mutation will develop cancer during their lifetime, but others will not. Currently, there is no way to know which people who have a cancer-causing mutation will develop cancer. Complete penetrance means that every person who has the mutation will show signs and symptoms of the disease.Cancer.govPatient

penetranciaDescribe la probabilidad de que una persona que tiene cierta enfermedad que produce mutaciones (cambios) en un gen muestre signos y síntomas de la enfermedad. No todas las personas con una mutación presentarán la enfermedad. Por ejemplo, algunas personas con mutaciones en los genes BRCA1 o BRCA2 presentarán cáncer en el curso de su vida, pero otras no lo harán. En la actualidad, no hay forma de determinar qué personas con una mutación que produce cáncer presentará cáncer. Penetrancia completa significa que cada persona con la mutación mostrará signos y síntomas de la enfermedad.Cancer.govPatient2003-10-03