BRCA mutations, linked to an increased risk of breast cancer, male breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer, occur in Ashkenazi Jews at rates more than ten times higher than in the general population.
About 1 in 40 Ashkenazi Jews carry a BRCA mutation.
Approximately 5-10% of breast cancer and 15% of ovarian cancer is hereditary. The two genes that cause the vast majority of hereditary breast and ovarian cancer are called BRCA1 and BRCA2. These are tumor suppressor genes that normally regulate cell growth to stop cancer from developing. We all carry these genes, but people with a mutation in their BRCA1 or BRCA2 gene have a predisposition to certain types of cancer. BRCA mutations are inherited in an autosomal dominant fashion, which means a person only needs to inherit one copy of the mutation to face increased risk for cancer. A person can inherit a BRCA mutation from either parent, and BRCA mutations affect men and women at equal rates. Furthermore, a person with a BRCA mutation has a 50% chance with each pregnancy of passing down that mutation to a child, regardless of sex. Watch an educational panel program about hereditary cancers in the Jewish community.
BRCA: Beyond Breast Cancer
BRCA mutations are perhaps best known for their link to breast cancer in women, as women with a BRCA mutation have a lifetime risk of breast cancer between 45-87%. Perhaps less well known but equally as important, BRCA1 and BRCA2 mutations also increase the risk of male breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. Females with a BRCA mutation have an 18-46% risk of developing ovarian cancer, compared to less than 2% in the general population. Males with a BRCA mutation have about 1-8% risk of developing male breast cancer, compared to 0.1% in the general population.
Cancers in people with hereditary risk tend to develop at younger ages (often younger than 50) compared to cancers in the general population, although they may develop at any age. Genetic counseling and testing can help individuals be proactive about their risk and learn how to prevent and detect cancer at earlier stages.
Assessing Your Risk for BRCA-Related Cancers
Meeting with a genetic counselor can help you assess your risk for hereditary cancers and whether cancer risk genetic testing may be right for you or your family. Individuals who had BRCA genetic testing more than five years ago can speak with a physician or genetic counselor about updated genetic testing options. BRCA mutation positive individuals can take action to lower their risks. However, it’s also important to note that testing negative does not mean that you are not at risk for cancer. In fact, most women with breast cancer do not have a BRCA gene mutation. Genetic counselors can help you understand what this means for you.
Surveillance and management for BRCA1 and BRCA2 mutation carriers:
Active surveillance and management – watching for warning signs and staying on top of your health – as well as lifestyle modifications, can significantly decrease one’s risk. Your personal health and family history will help determine at what age and how frequently to utilize these strategies. Please consult your physician for individual recommendations.
General Recommendations May Include:
- Breast self-exams
- Clinical breast exams and pelvic exams
- Breast MRI, which can detect early breast cancers that are undetected on a mammogram and not felt by a physician
- Transvaginal ultrasound and CA-125 blood serum level, to screen for ovarian cancer (note: this screening has limitations and can miss cancers during the early, most curable stages)
- Chemoprevention medications to help prevent breast cancer and oral contraceptives to help prevent ovarian cancer
- Preventive breast surgery, along with a discussion of breast reconstruction
- Preventive removal of the ovaries and fallopian tubes, along with a discussion of hormonal and non-hormonal management of menopausal symptoms and prevention of bone loss
General Risk Reduction Strategies Include:
- Maintaining a healthy diet high in fruits and vegetables and low in fat
- Decreasing alcohol consumption and avoiding nicotine
- Exercising regularly; your risk of breast cancer may be up to one-third lower with regular physical activity
- The use of oral contraceptives has a possible protective factor against breast and ovarian cancer. Childbearing and breastfeeding are also possible protective against both breast and ovarian cancer.
Family Planning with a Cancer Risk Mutation
People with a BRCA mutation may have special considerations when planning for a family. For example, a woman considering risk-reducing surgeries to remove her breasts and/or ovaries may want to consider the timing of childbearing in relation to surgeries. Some people who carry a BRCA mutation may opt for fertility preservation and/or to test embryos to avoid passing down the mutation to a future child. Talking with a genetic counselor or your doctor can help you decide what is best for you and your family.