NCI Dictionary of Genetics Terms

13 results found for: F

facies: (FAY-sheez); A distinctive facial feature or expression that is characteristic of a specific condition.
false-positive result: (… PAH-zih-tiv reh-ZULT); A test result that indicates an individual is affected and/or has a certain gene mutation when he or she is actually unaffected and/or does not have the mutation; i.e., a positive test result in a truly unaffected or mutation-negative individual.
familial: (fuh-MIH-lee-ul); Having to do with a phenotype or trait that occurs with greater frequency in a given family than in the general population. Familial traits may be related to shared genetic factors and/or shared lifestyle or environmental factors.
family cancer syndrome: (FA-mih-lee KAN-ser SIN-drome); A type of inherited disorder in which there is a higher-than-normal risk of certain types of cancer. Family cancer syndromes are caused by inherited genetic variants and may be associated with several clinical manifestations. Examples of family cancer syndromes include Lynch syndrome and hereditary breast and ovarian cancer syndrome. Also called hereditary cancer syndrome and inherited cancer syndrome.
FDR: A parent, sibling, or child of an individual. Also called first-degree relative.
fibrofolliculoma: (FY-broh-fuh-LIH-kyoo-LOH-muh); A benign tumor of the hair follicle that appears as a small, whitish papule. Fibrofolliculomas are typically found on the face, ears, neck, and upper torso. They are pathognomonic for Birt-Hogg-Dubé syndrome, a hereditary condition associated with the development of kidney cancer.
first-degree relative: (first-deh-GREE REH-luh-tiv); A parent, sibling, or child of an individual. Also called FDR.
FISH: A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Examination through a microscope under fluorescent lighting detects the presence or absence of the colored hybridized signal, hence the presence or absence of the chromosome material. Also called fluorescence in situ hybridization.
fluorescence in situ hybridization: (floor-EH-sents in SY-too HY-brih-dih-ZAY-shun); A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Examination through a microscope under fluorescent lighting detects the presence or absence of the colored hybridized signal, hence the presence or absence of the chromosome material. Also called FISH.
founder mutation: (FOWN-der myoo-TAY-shun); A genetic alteration observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the altered gene. This phenomenon is often called a founder effect. Also called founder variant.
founder variant: (FOWN-der VAYR-ee-unt); A genetic alteration observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the altered gene. This phenomenon is often called a founder effect. Also called founder mutation.
frameshift mutation: (FRAYM-shift myoo-TAY-shun); An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence. Such variants (or mutations) usually lead to the creation of a premature termination (stop) codon, and result in a truncated (shorter-than-normal) protein product. Also called frameshift variant.
frameshift variant: (FRAYM-shift VAYR-ee-unt); An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence. Such variants (or mutations) usually lead to the creation of a premature termination (stop) codon, and result in a truncated (shorter-than-normal) protein product. Also called frameshift mutation.