Role of Heredity in Melanoma Susceptibility

A Primer for the Practicing Surgeon
Published:October 31, 2019DOI:


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      A person who carries a mutated copy of a gene that can be passed onto offspring. This person may or may not manifest the phenotypes associated with this mutation.
      Genome-wide association study
      A tool used to identify genes involved in human disease by searching for single nucleotide polymorphisms that have a higher level of incidence in people with a disease compared with people without a disease.
      The genetic makeup of an organism. Governed by allelic combinations that result in various observable phenotypes.
      Germline mutation (hereditary)
      A genetic change that is incorporated into the DNA of the organism and is therefore passed on to offspring.
      Linkage analysis
      A biological tool used to detect the chromosomal location of disease genes. The basis of this tool is that genes that are physically close to a chromosome remain linked during meiosis.
      Phenome-wide association study
      Used to survey which phenotypes are associated with particular genetic variations.
      The observable physical characteristics of an organism that result from the genotype of the particular organism. Some examples include height, hair and iris color, and so forth.
      The individual through whom a family with a genetic disorder is determined. Male individuals are referred to as propositus, and female individuals are referred to proposita.
      Somatic mutation (sporadic)
      A genetic change that occurs within an organism after its conception. These mutations are not passed on to offspring and are often associated with various cancers.
      Wild type
      A gene in its natural, nonmutated form.