hereditary cancer syndromes การใช้

• Activating point mutations in RET can give rise to the hereditary cancer syndrome known as multiple endocrine neoplasia type 2 ( MEN 2 ).
• An example of such a hereditary cancer syndrome is xeroderma pigmentosum, which causes the development of skin cancers in response to even minimal exposure to ultraviolet light.
• For instance, at least 36 DNA repair enzymes, when mutationally defective in germ line cells, cause increased risk of cancer ( hereditary cancer syndromes ).
• Von Hippel Lindau syndrome ( VHL ) is a dominantly inherited hereditary cancer syndrome predisposing to a variety of malignant and benign tumors of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands.
• Genetic counseling can occur before conception ( i . e . when one or two of the parents are carriers of a certain trait ) through to adulthood ( for adult onset genetic conditions, such as Huntington's disease or hereditary cancer syndromes ).
• For instance, at least 36 DNA repair enzymes, when mutationally defective in germ line cells, cause increased risk of cancer ( hereditary cancer syndromes ) . ( Also see DNA repair-deficiency disorder . ) Similarly, at least 12 DNA repair genes have frequently been found to be epigenetically repressed in one or more cancers . ( See also translesion synthesis ), lead to mutations and cancer.
• For instance, at least 36 DNA repair enzymes, when mutationally defective in germ line cells, cause increased risk of cancer ( hereditary cancer syndromes ) . ( Also see DNA repair-deficiency disorder . ) Similarly, at least 12 DNA repair genes have frequently been found to be epigenetically repressed in one or more cancers . ( See also MMEJ repair is highly inaccurate, so in this case, over-expression, rather than under-expression, apparently leads to cancer.