Common Hereditary Cancer Syndromes

Individuals with a personal and family history of breast cancer may be interested in genetic testing for hereditary cancer syndromes. If you would like to meet with a genetic counselor, please contact your physician to discuss a referral.

Breast

Breast cancer is a feature of several hereditary cancer syndromes. The major hereditary breast cancer syndromes include Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Li-Fraumini Syndrome, Peutz-Jeghers Syndrome and Cowden PTEN Hamartomas Syndrome. In these syndromes, the risk for breast cancer is significantly high and warrants regular screening and/or surgical management. Additional follow up includes discussing appropriate care for other at risk cancers. Both men and women with these genetic conditions are at risk for cancer and should be evaluated to provide appropriate care.

Several other genes may also contribute to a risk for breast cancer. To determine the best test for you, please speak with a cancer genetics care provider. You may contact us at (210) 450-GENE (4363) if you have additional questions.

Colorectal

Most individuals with colorectal cancer have sporadic cancer but around 5-10% of affected individuals have a hereditary cancer condition that causes a high risk for cancer. Colon cancer syndromes are divided into colon polyp causing (polyposis) syndromes and non-polyposis syndromes.

The polyposis syndromes are Familial Adenomatous Polyposis (FAP), MYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome, and Peutz-Jeghers Syndrome. In these syndromes, colorectal cancer and colon polyps are the major features. Lynch syndrome is the non-polyposis syndrome that is associated with high risk for colorectal cancer and several other cancers. For individuals with these syndromes, regular screening and/or management is offered for colorectal cancer as well as other associated cancers.

Several other genes may also cause a higher risk for colorectal cancers. To determine the best test for you, please speak with a cancer genetics care provider. You may contact us at (210) 450-GENE (4363) if you have additional questions.

Neuroendocrine

Hereditary syndromes that cause individuals to be at an increased risk for tumors in the hormone producing cells of the body are called neuroendocrine disorders. Each neuroendocrine disorder is associated with increased risk for specific tumors or cancers of the thyroid, pancreas or adrenal glands.

Some of the major neuroendocrine conditions include Von Hippel Lindau, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Hereditary Pheochromocytoma and Paraganglioma Syndrome and PTEN Hamartomatous Syndrome. Screening and/or management offered will depend on the specific neuroendocrine disorder.

Several other genes may also cause a higher risk for neuroendocrine tumors. To determine the best test for you, please speak with a cancer genetics care provider. You may contact us at (210) 450-GENE (4363) if you have additional questions.

Other

Certain hereditary conditions cause people to have a high risk for renal cancer, skin cancer and /or other tumors. A list of several genetic conditions evaluated at our clinic is listed below:

Birt-Hogg-Dubé

  • Hereditary Liomyomatosis and Renal Cell Cancer
  • Hereditary Papillary Renal Cell Cancer
  • Tuberous Sclerosis
  • Neurofibromatosis Type 1
  • Nevoid Basal Cell Carcinoma (Gorlin Syndrome)
  • Familial Atypical Multiple Mole Melanoma
  • Neurofibromatosis Type 2
  • Schwannomatosis
  • Familial Meningiomatosis

To determine the best test for you, please speak with a cancer genetics care provider. You may contact us at 210-450-GENE (4363) if you have additional questions.