A comprehensive cancer risk assessment was completed for all of these families, including information regarding individual risks for developing cancer and risks of having a cancer predisposition gene. Family histories suggestive of hereditary predisposition include the following:

· When several close relatives have cancers 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

· When cancer affects several siblings. Families also are at higher risk when there are multiple cases of a cancer across generations

· When there is a history of developing malignancy 15 to 20 years earlier than expected

· When individuals have more than one type of cancer. For example, an individual who is diagnosed with breast cancer at age 35 and ovarian cancer at age 55

Once risk profiles were interpreted, these individuals and families received comprehensive education regarding the potential risks, benefits and limitations of genetic testing, as well as information about recommended screening and prevention measures, including prophylactic surgery. When appropriate, genetic testing was offered and undertaken.

Some of the families with unusual syndromes enrolled in research studies, and two families were referred to the National Institutes of Health for special evaluation because an unusual syndrome was identified at Saint Louis University Cancer Center. Their follow-up care is now managed through the Cancer Center.

What these numbers do not tell is the stories of the families served. One family that has received care through the program has a known mutation in the RET gene associated with multiple endocrine neoplasia type 2 (MEN2). About 95 percent of individuals with MEN2 develop medullary thyroid carcinoma, about 50 percent develop pheochromocytoma, and about 20 to 30 percent develop hyperparathyroidism. The average age for the development of thyroid cancer is about 15 years, so prophylactic thyroidectomy is recommended by age 5 in known carriers. The Hereditary Cancer program has assisted in the education and testing for this gene in this family. For those who have tested positive, the Hereditary Cancer program has coordinated care, including prophylactic thyroidectomy and follow-up with endocrinologists.

The program served many families at risk for hereditary breast and ovarian cancer. Often these women have mutations in the BRCA1/2 genes. Women who test positive have an estimated 90 percent lifetime risk of developing breast cancer and an approximate 45 percent lifetime risk of developing ovarian cancer. Women who test positive for this gene need to make difficult choices about how to manage this risk, which is often best managed with prophylactic mastectomy and oophorectomy. Women need education and support as they make emotionally difficult decisions about prevention; this education, as well as coordination, support, and follow-up care for other family members at risk, is regularly provided through the Hereditary Cancer program.

The Hereditary Cancer program also served an increasing number of families with hereditary colorectal cancer syndromes in 2009. Several large families were identified with mutations associated with hereditary nonpolyposis colorectal cancer (HNPCC). Affected family members have an approximate lifetime risk of colorectal cancer of 85 percent. Often a polyp can progress to colon cancer in 12 to 18 months. For this reason, annual colonoscopy is often initiated about age 25. Women from these families have an approximate 60 percent lifetime risk of developing ovarian cancer and 15 percent lifetime risk of developing ovarian cancer, so a total hysterectomy is often indicated about age 40. Families with HNPCC receive comprehensive education and support through the Hereditary Cancer program.

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 year, Dr. Mahon also presented 10 lectures to 705 health professionals and eight lectures to more than 400 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.