Understanding The Genetic Risk For Breast Cancer

By Dr. Kathleen Ruddy

Scientists believe that 5-10% of all women diagnosed with breast cancer carry a gene responsible for causing the disease. Some of these genes, all of which are inherited, have been identified and several blood tests have been developed to identify women from high-risk families who carry these mutations. Understanding what genes have been discovered and learning more about who should be tested are important for the early detection and treatment of inherited breast cancer in high-risk families.

What is the most common gene involved in inherited breast cancer?

A BRCA mutation is the most common gene involved in hereditary breast cancer. When this gene is inherited in a mutated form, normal breast cells are more vulnerable to malignant transformation.

Can the BRCA mutation be inherited from either parent?

Yes, the BRCA mutation can be inherited from either parent. Thus, if there is a strong family history of breast cancer on the father’s side of the family, his daughters may be at risk for inheriting a BRCA mutation.

DID YOU KNOW?

Blood tests are now available to detect BRCA mutations in women who come from families where there is a high incidence of breast cancer. Because genetic testing is a complicated process that involves many choices if a woman tests positive for the BRCA mutation, it is best for interested women to seek professional advise from a genetic counselor.

Are there any other consequences of inheriting a BRCA mutation?

Women who inherit a BRCA mutation, from either parent, tend to develop breast cancer at a younger age. And they tend to develop breast cancer in both breasts (bilateral) more often than women who do not carry the mutation.

Are there any other cancers associated with the BRCA mutation?

Yes, women who carry the BRCA mutation have an increased risk for ovarian cancer and a slightly increased risk for colon cancer.
Hereditary breast cancer is most often associated with a BRCA mutation. The lifetime risk of breast cancer in women who carry a BRCA mutation is approximately 50-85%. Women who come from families where breast cancer incidence in high, either on the mother or the father’s side, should seek professional advice from a qualified genetic counselor.

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