Clinical Genetics

BRCA1 and BRCA2 are tumor suppressor genes, meaning when they function normally their job is to keep tumors from forming. Some people however, have an altered or mutated copy of the gene and certain mutations are associated with an increased risk for several cancer types, including breast, ovarian, prostate, pancreatic, melanoma, and in some families, colorectal.

Even if you already have cancer, you can’t let down your guard when it comes to prevention. In fact, cancer patients have even more reason to be on guard, because they usually have a higher risk for infection or developing other types of cancer.

Because BRCA mutations are strongly linked to breast and ovarian cancer, they have been studied more widely in women than in men — and women are more likely than men to be referred by their doctors for genetic testing. But BRCA mutations are associated with many types of cancer, and men are also at risk.

A genetic consultation is often recommended for people who are concerned about their risk for cancer due to a personal or family history of cancer.

Down syndrome is one of the most well-known and common chromosomal disorders—there are approximately 400,000 people in the United States with the condition, also known as trisomy 21.