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NCI
3. What genetic tests are available for cancer risk?
More than 50 hereditary cancer syndromes have been described. The majority of these are caused by highly penetrant mutations that are inherited in a dominant fashion. The list below includes some of the more common inherited cancer syndromes for which genetic testing is available, the gene(s) that are mutated in each syndrome, and the cancer types most often associated with these syndromes.
Hereditary breast cancer and ovarian cancer syndrome
- Genes: BRCA1, BRCA2
- Related cancer types: Female breast, ovarian, and other cancers, including prostate, pancreatic, and male breast cancer
- Gene: TP53
- Related cancer types: Breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia, brain tumors, adrenocortical carcinoma (cancer of the adrenal glands), and other cancers
- Gene: PTEN
- Related cancer types: Breast, thyroid, endometrial (uterine lining), and other cancers
- Genes: MSH2, MLH1, MSH6, PMS2, EPCAM
- Related cancer types: Colorectal, endometrial, ovarian, renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain, and breast cancers
- Gene: APC
- Related cancer types: Colorectal cancer, multiple non-malignant colon polyps, and both non-cancerous (benign) and cancerous tumors in the small intestine, brain, stomach, bone, skin, and other tissues
- Gene: RB1
- Related cancer types: Eye cancer (cancer of the retina), pinealoma (cancer of the pineal gland), osteosarcoma, melanoma, and soft tissue sarcoma
- Gene: MEN1
- Related cancer types: Pancreatic endocrine tumors and (usually benign) parathyroid and pituitary gland tumors
- Gene: RET
- Related cancer types: Medullary thyroid cancer and pheochromocytoma (benign adrenal gland tumor)
- Gene: VHL
- Related cancer types: Kidney cancer and multiple noncancerous tumors, including pheochromocytoma
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