NCI Dictionary of Genetics Terms

recurrence risk: (ree-KER-ents risk); In genetics, the likelihood that a hereditary trait or disorder present in one family member will occur again in other family members. This is distinguished from recurrence risk for cancer, which is the chance that a cancer that has been treated will recur.
reduced penetrance: (ree-DOOST PEH-neh-trunts); Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. A condition is said to show incomplete penetrance when some individuals who carry the pathogenic variant express the associated trait while others do not. Also called incomplete penetrance.
risk assessment: (… uh-SES-ment); The quantitative or qualitative assessment of an individual’s risk of carrying a certain gene mutation, or developing a particular disorder, or of having a child with a certain disorder; sometimes done by using mathematical or statistical models incorporating such factors as personal health history, family medical history and ethnic background.
RNA splicing: (... SPLY-sing); The process by which introns (noncoding regions of genes) are cut out of the primary messenger RNA transcript, and the exons (coding regions of genes) are joined together to make mature messenger RNA. Mature messenger RNA carries the instructions a cell needs for making a specific protein.