ABSTRACT

This chapter addresses possible interpretations of the mutations in tumors and how they are identified from the standpoint of individual cancer risk. There are over 100,000 human genes located on 46 chromosomes. Genes are composed of deoxyribonucleic acid in two strands joined by nucleotide base pairing. Familial cancers involving highly penetrant mutations of single genes account for less than 5–10% of human cancers. Human tumors occur through an accumulation of multiple mutations and genetical changes. They affect gene function and the coding of proteins, which allows cancer to develop. Mutations in the early stages of cancer and precancerous lesions are among the most informative for providing information about the carcinogenic process. Cancer-related genes also can be categorized into gatekeeper, caretaker, and landscaper genes. Good pathological examination using standard techniques is required to ensure success at subsequent analysis.