Cancers develop because of alterations, or mutations, in genes that normally promote controlled cell growth. Most cancers are caused by mutations that occur only in the tissue that is affected by the cancer.
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Each cell in your body contains about 25,000 genes, which determine your hair color, your height, and other characteristics that make you unique.
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People with this syndrome have dark moles around the mouth, nose, and eyes, as well as multiple polyps in the intestines.
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FAP is a syndrome characterized by a large number of benign polyps in the colon and rectum. Without treatment, a person with FAP has a nearly 100% risk of colorectal cancer.
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Several rare syndromes raise the risk for colorectal cancer. These disorders include Turcot syndrome, Peutz-Jeghers syndrome, juvenile polyposis coli, and MYH-associated polyposis.
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This rare type of thyroid cancer has several forms, depending on the mutations that cause it. Most cases of medullary thyroid cancer, though, are sporadic—they occur without any family history of thyroid cancer.
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VHL is a rare genetic disorder marked by an increased risk of developing benign tumors in the brain, spine, retina, and adrenal gland, and cancerous tumors in the kidney.
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Chromosome studies may be performed when a child is born with multiple birth defects. They may also be done when people have certain types of leukemias and lymphomas, to look for specific chromosome rearrangements associated with these types of cancers. Direct DNA studies look directly at the gene in question for an error.
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Testing methods vary from laboratory to laboratory and may affect the likelihood that the lab will identify a mutation in the gene if one is present. Different laboratory studies have the ability to detect different types of mutations. Accuracy will vary, depending upon the type of genetic testing method performed.
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