How Should People with Hereditary Breast Cancer Be Monitored and Treated?

Cancer risk is very high in individuals carrying a gene mutation associated with hereditary breast cancer. Based on genetic tests and family tree analyses, medical oncologists and genetic counselors work together to plan risk management for the individual and family.

What Is the Breast Cancer Risk in Individuals Carrying a Hereditary Breast Cancer Mutation?

It is important to emphasize that carrying a breast cancer-associated inherited gene mutation does not mean a person will definitely develop cancer. However, these mutations substantially increase risk. Breast cancer risks in individuals carrying gene mutations associated with hereditary breast cancer are as follows:

In Women

• Lifetime breast cancer risk: % 50 - % 85 • Before age 50, breast cancer risk: % 30 - % 50 • Risk of a second breast cancer: % 40 - % 60 In addition: - Among women with a BRCA1 mutation, 80 percent develop triple-negative breast cancer . - Among women with a BRCA2 mutation, 70 percent develop estrogen-positive, progesterone-positive and HER2-negative breast cancer. Individuals carrying gene mutations associated with hereditary breast cancer also have increased risks of the skin cancer melanoma, pancreatic, stomach, esophageal and biliary tract cancers.

What Are the Risk-Reducing Measures in Hereditary Breast Cancer?

• Prophylactic bilateral mastectomy, preventive surgical removal of both breasts because of a high risk of developing breast cancer, is effective in reducing breast cancer risk. This issue attracted worldwide attention with Angelina Jolie in 2013. Only 3 percent of breast cancer cases associated with inherited gene mutations occur before age 30. Preventive surgery should therefore be considered for individuals older than 30. Decisions about surgery take BRCA mutation status, general health and the family tree into account. Prof. Dr. Mustafa Özdoğan and Prof. Dr. Alihan Gürkan explain preventive breast cancer surgery:

• Chemopreventioninvolves drugs used to prevent cancer cells from growing and developing. In a study of carriers of gene mutations associated with hereditary breast cancer, women taking, for 5 years, tamoxifen were observed to have a reduction in breast cancer risk of up to 50 percent.

Screening Has an Important Place in Risk-Reducing Approaches for Hereditary Breast Cancer

Screening recommendations for high-risk patients, individuals carrying gene mutations associated with hereditary breast cancer, are as follows. In Women: 1. Monthly breast self-examination (from age 18) 2. Clinical breast examination twice a year (from ages 25-30) 3. Annual magnetic resonance imaging (from age 25) 4. Every 6 months, mammography (from the 30s) 5. Every 6 months, pelvic (gynecological) examination, transvaginal ultrasound and CA-125 blood testing (starting in the 30s) In Men: 1. Monthly breast self-examination (from age 30) 2. Annual clinical breast examination (from age 30) 3. Annual prostate examination, digital rectal examination and PSA blood testing (from age 40) - In our previous article on this subject, we answered who should have genetic testing for hereditary breast cancer . - In our previous article, we discussed Who should have genetic testing for hereditary breast cancer? .