What is hereditary breast & ovarian cancer?
Hereditary Cancer Syndromes
Genes are the set of instructions that tell cells what to do. A gene mutation is a change in a gene’s DNA that causes that gene to stop working.
Doctors have identified many gene mutations that can increase the risk of developing cancer and developing it at a younger age than normal. These mutations can be passed down from parent to child. They are called hereditary cancer syndromes.
Common hereditary cancer syndromes
Up to 10% of cancers are caused by a hereditary cancer syndrome. The most common hereditary cancer syndromes are:
Hereditary breast & ovarian cancer syndrome
Hereditary breast and ovarian cancer syndrome (HBOC) is caused by mutations to either the BRCA1 or BRCA2 gene. A female with a BRCA mutation has an increased risk of developing breast cancer and ovarian cancer. A male with an inherited BRCA mutation has a higher chance of developing male breast cancer and prostate cancer. In addition, some carriers have a higher risk of developing other diseases, including pancreatic cancer and melanoma of the skin.
PTEN hamartoma tumor syndrome (Cowden syndrome)
Commonly known as Cowden Syndrome, this condition is caused by mutations in the PTEN gene. These mutations increase the risk of tumors in the breast, uterus, thyroid and other locations. These tumors can be either benign (not cancer) or malignant (cancer). The syndrome can also cause patients to develop multiple tumor-like growths, called hamartomas, in different parts of the body. Most patients develop small hamartomas in the skin and mucous membranes, such as the mouth and nasal cavity. These growths can also occur in the intestinal tract or brain.
Lynch syndrome (Hereditary non-polyposis colorectal cancer syndrome)
Lynch syndrome, also called hereditary non-polyposis colorectal cancer syndrome, increases the chance of a person developing several cancers and developing them earlier than normal, especially colorectal cancer and endometrial cancer . Lynch syndrome can also increase the chance of developing biliary cancer, brain cancer, ovarian cancer, pancreatic cancer, stomach cancer and cancers of the urinary tract, such as bladder cancer and kidney cancer. Lynch syndrome is caused by a mutation in any one of five genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. Different mutations have different cancer risks.
Learn more about Lynch syndrome.
Hereditary leukemia and hematologic malignancies syndromes
About 5-10% of all leukemia cases are hereditary. Doctors have identified mutations in several different genes that can increase the chance of developing leukemia and related blood diseases such as myelodysplastic syndrome and aplastic anemia. Leukemia patients with a family history of the disease should talk to a genetic counselor. This history may mean they need genetic testing. The test results could impact the patient’s treatment plans. MD Anderson patients suspected of having hereditary leukemia should be seen by our Hereditary Leukemia Clinic.
Familial adenomatous polyposis (FAP)
Familial adenomatous polyposis (FAP) is caused by a mutation to the APC gene. It leads to colon polyposis, the development of hundreds to thousands of precancerous colon polyps throughout the gastrointestinal tract. These growths can develop into cancer if left untreated. Most polyps are in the colon and rectum, but they also develop in the stomach and small intestine. Some people with FAP also develop osteomas (benign tumors of the bone), soft tissue tumors (called desmoids), or other cancers or tumors.
Attenuated FAP (AFAP) is a milder form of FAP. AFAP patients develop fewer colon polyps but still have an increased risk of developing colon cancer.
FAP is not the only cause of colon polyposis. Other genetic disorders can also cause the condition. These can be included in genetic testing.
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome (LFS) is a rare genetic condition that increases the risk of developing several types of cancer. These can develop during childhood, adolescence or adulthood. Most individuals with LFS have mutations in the TP53 gene. The most common types of cancer associated with LFS include:
- Soft tissue sarcoma (tumor in fat, muscle, nerve, joint, blood vessel, bone or deep skin)
- Breast cancer
- Leukemia
- Lung cancer
- Brain tumors
- Adrenal gland cancer
von Hippel-Lindau disease
Von Hippel-Lindau disease (VHL), caused by a mutation to the von Hippel-Lindau gene, causes an increased chance of several types of tumors. These tumors can be benign (not cancer) or malignant (cancer). One common type of VHL tumor is formed by abnormal blood, called hemangioblastomas. These can develop in the retina of the eye and in the nervous system, including the brainstem and spinal cord. VHL can also cause kidney cancer and tumors in the adrenal gland and pancreas.
Multiple endocrine neoplasia
Multiple endocrine neoplasia (MEN) syndromes cause tumors to develop in certain parts of the endocrine system. The endocrine system is comprised of glands that secrete hormones into the bloodstream. These hormones help regulate mood, growth and development, metabolism, sexual function and the reproductive processes, among other functions.
There are two MEN syndromes: MEN1 typically causes growths in the pituitary gland, parathyroid glands, and pancreas. MEN2 causes the development of medullary thyroid cancer and an increased chance of growths of the parathyroid glands and adrenal glands.
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