Genes are present in each body cell, and they affect the way cells grow, divide, and die. Any changes in the body’s genetic code can cause mutations that can either harm or help the body. Mutations can be passed to children from their parents (inherited gene mutations). 

BRCA1 and BRCA2 are common genes associated with breast cancer, and everyone has them. When you have an inherited mutation in the BRCA1 or BRCA2 gene, your risk of breast cancer and some other diseases like ovarian cancer increases, but having the mutation doesn’t mean you’ll develop breast cancer. Even those without the mutation are also at risk.

A person is likely to have a genetic mutation associated with breast cancer if they have blood relatives with a history of breast cancer on one or both breasts, ovarian cancer or triple-negative breast cancer.

Other less common genetically inherited mutations that may cause breast cancer include;

  • PALB2 – PALB2 is a gene that instructs the body to produce a protein that helps BRCA2 to repair damaged cells and prevent the growth of tumors. Women with PALB2 mutations have a 14% risk of getting breast cancer when they reach 50 years. The risk will increase as they get older

  • PTEN – PTEN gene helps to regulate the growth of cells in the body. A mutative PTEN causes a rare disorder known as Cowden syndrome, which increases the risk of benign and cancerous breast tumors. It also causes growths in the ovaries, uterus, thyroid, and digestive tract. PTEN is often diagnosed in women aged 38-50 years

  • TP53 – TP53 is the gene that instructs the body to produce a protein that stops the growth of tumors. An abnormal TP53 can cause Li-Fraumeni syndrome, where the patient develops soft tissue cancer at a young age. This puts them at high risk of breast cancer and other cancers such as brain tumors, sarcoma, and leukemia. Women with Li-Fraumeni syndrome are likely to develop breast cancer at age 70 or earlier. They are also vulnerable to HER2 cancers

Dr. Tower, Dr. Dabney and Dr. Goday all offer genetic counseling to patients in our office. They may order genetic tests to determine if you’ve inherited abnormal genes that may cause breast cancer. The decision on the type of test you’ll undergo will solely depend on your family and personal history of breast cancer and other related cancers.

Frequent screening is recommended (twice a year) if you’re at high risk to help identify cancer early before it spreads to the rest of the body.