Genetic Counseling and Testing

Much of the breast cancers we see are actually sporadic or spontaneous cancers and are caused by chance and there is no identifiable inherited genetic mutation. There are some families where we are able to identify a hereditary link to breast cancer risk. Some red flags in a family are multiple cases of similar cancers, early onset cancer, bilateral cancer, Ashkenazi Jewish Ancestry, multiple cancers in a single person.

In people with any of these red flags we wonder if it is more than chance and there could be a genetic predisposition for cancer. We refer to these genetic predispositions as hereditary cancer syndromes. Hereditary cancer accounts for approximately 10% of all the breast cancers that we see. There are also families where there is no identifiable genetic mutation found but we still see a strong family history. We refer to these families are Familial Cancers and even when the genetic testing is negative we may still consider these families to be high risk families and may watch them more closely. Identifying people with these mutations is important for many reasons. When we identify a person with a mutation we discuss several management options for them. We typically can watch them closer with imaging (increased surveillance), offer medications to reduce their risk of certain cancers (chemoprevention), or discuss the option of preventative removing the organ at risk for cancer (prophylactic surgery). Genetic testing may affect other family members as well and allow us to watch them more closely.

Many people have heard of the BRCA genes and they remain the most common. We now look at a variety of different genes all of which have varied risks percentages and management. Some of the genes analyzed still have risks that have not been well defined. And there is the potential of more genes to be identified in the future. An individual’s cancer risk and medical management are not determined by genetic test results alone. Overall cancer risk assessment incorporates additional factors, including personal medical history, family history, and any available genetic information that may result in a personalized plan for cancer prevention and surveillance.

If you think that you may be a candidate for breast cancer genetic testing in central Massachusetts, the healthcare professionals at Saint Vincent Medical Group are here to provide guidance. Call us today at (833)609-6707 to schedule a consultation.