Genetics and Cancer: What Do Your Genes Say About You?

By Israel Zighelboim, MD, FACOG, FACS
Gynecologic Oncologist, St. Luke’s University Health Network

The study of genetics has led to some of the most significant breakthroughs in cancer research, diagnosis and treatment. Through sophisticated genetic testing, specialists can identify the presence of genetic markers that indicate an increased risk of developing certain types of cancer.

Individuals who know they are at greater risk can take steps to significantly increase their chance of survival. They can be screened more frequently to catch cancer when it first appears and is most treatable. They can take medications and have surgical procedures to reduce their risk. For example, a woman not interested in future fertility might opt to have her reproductive organs removed. Should cancer develop, an oncologist may use information from genetic testing to design a highly effective course of targeted molecular therapy to interfere with specific molecules involved in the growth and spread of cancer.

Individuals with a high prevalence of cancer within their family – one or more immediate family members or several extended family members diagnosed with cancer – should consider genetic counseling. This is especially true if the family members were young when diagnosed. Also, certain ethnic groups have a greater risk of developing cancer. For example, Ashkenazi Jews have a 1 in 40 chance of carrying a BRCA1 or BRCA2 gene mutation, 10 times greater risk than the non-Jewish population. Individuals with these mutations have a significantly increased chance of developing breast, ovarian and other cancers.

Each individual should be aware of his or her family’s cancer history. If concerned, seek out genetic counseling from a certified genetic counselor who can provide the individual the information needed to make the right decision to pursue testing in order to reduce their cancer risk.

Genetics Software Purchased with Grant from Women’s 5K

The Women’s 5K Classic recently made a generous grant of $24,000 to purchase Progeny Software for our Genetic Counseling program.  The software will allow Dr. Israel Zighelboim, St. Luke’s Gynecologic Oncologist, and Andrea Smith, certified genetic counselor, to advance the genetics program at St. Luke’s Cancer Center. They will be able to run multiple risk models which estimate the patient’s risk to carry a BRCA1 or BRCA2 gene mutation and a lifetime risk to develop breast cancer.

Currently, these risk models are calculated individually for each patient by the genetics counselor. The Progeny software is a critical tool in helping patients and surgeons make the best decision about what type of surgery and treatment will provide the best outcome with the least risk based on their family history and subsequent genetic testing if indicated.