An estimated 10% of persons diagnosed with cancer have a hereditary predisposition for developing cancer. For every person diagnosed with hereditary cancer syndrome, there are usually at least 4 to 6 first-degree relatives who are also at higher risk for developing cancer. For a person with hereditary cancer this means there is a statistical 50% chance that children and siblings also have inherited a defective gene which confers an approximate 90% risk for developing cancer usually at a younger age than expected. Since multiple individuals may be at risk, the importance of a coordinated program of care that manages a family instead of isolated individuals cannot be underestimated. The Hereditary Cancer Program identifies individuals and families at risk and provides comprehensive education and counseling regarding the potential risks, benefits, and psychosocial ramifications of genetic testing as well as recommendations for the prevention and early detection of cancer.
Family histories suggestive of hereditary predisposition who may benefit from comprehensive cancer risk assessment include the following:
• Several close relatives have the same cancer(s) such as breast, colon, ovarian or malignant melanoma cancers. Members of these families may have one type of these cancers or a combination of these cancers.
• Cancer may affect several siblings. Families also are at higher risk when there are multiple cases of a cancer across generations
• Families that have a history of developing malignancy 15 to 20 years earlier than expected
• In some families, individuals have more than one type of cancer such as an individual who is diagnosed with breast cancer at age 35 and ovarian cancer at age 55
What these numbers do not tell is the stories of the families served. The Hereditary Cancer Program received a referral for a 27 year old pregnant female who was unemployed and uninsured. She had an unusual cancer of the adrenal glands know as a pheochromocytoma. Her family history was reviewed and there were a variety of cancer cases. Genetic testing was completed and she had a mutation associated with Multiple Endocrine Neoplasia. She is at significantly increased risk for another pheochromocytoma and medullary thyroid cancer. Arrangements are being made for a prophylactic removal of her thyroid and regular monitoring for a pheochromocytoma. Funding was utilized to pay for her testing as well as for her son and daughter who both tested negative.
A 38 year old male was being treated for a parganglioma which is an unusual tumor that grows in the nerves of the peripheral nervous system. He has multiple tumors and was concerned about risks to his children. Genetic testing was done after counseling and he was found to have an unusual mutation in the SBDH gene which is associated with a very elevated risk for paragangliomas and pheochromocytomas. Funding was used to test this young man, his brother who tested negative so he is not at increased risk and for his two children. Unfortunately both of his children tested positive and are at increased risk and require extensive monitoring. Care has been arranged for these children, but the family continues to require counseling and support to deal with this devastating diagnosis.
A 25 year old student engaged to be married in 6 moths who is uninsured and recently relocated to the metropolitan area was upset to learn that a mutation associated with hereditary gastric and breast cancer was isolated in her family. Persons with gene usually need their stomach removed preventatively because the risk of stomach cancer is very high and this cancer is difficult to detect. Aggressive breast cancer screening is also needed. Funding was utilized to pay for testing. She has tested positive and her care is being arranged at this point.
SLU’s Hereditary Cancer Program has maintained its commitment to provide ongoing, comprehensive cancer genetics counseling services and genetic testing to these patients. All of these services are available to members of the community through Saint Louis University Cancer Center. The education and counseling services are provided without cost to patients by Suzanne Mahon, R.N., DNSc., AOCN, APNG. This truly makes this service accessible to anyone who would benefit from education and counseling. Financial assistance is available for those who are uninsured, underinsured or lack the financial resources to pay for genetic testing.
During the past year, Dr. Mahon also presented eight lectures to 585 health professionals and fourteen lectures to more than 830 people in the community. She is available to health professionals and community groups to provide education on cancer genetics and cancer risk assessment. For more information or to schedule an appointment or lecture, please contact Dr. Mahon at (314) 577-8854.
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