A mutation is a change in a gene that prevents it from working properly. We inherit mutations from our parents in specific ways, one of which is called autosomal dominant inheritance .
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Detailed information on autosomal recessive genes.
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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 noncancer (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 cancerThese disorders include Turcot syndrome, Peutz-Jeghers . syndrome, juvenile polyposis coli, and MUTYH-associated polyposis.
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Here is a list of questions to ask your healthcare provider about treatment for 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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