Hereditary Cancer

Jews and Hereditary Cancer

BRCA mutations, linked to an increased risk of breast cancer, male breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, and melanoma, 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.

Direct-to-Consumer Hereditary Cancer Risk Screening: What Our Community Needs to Know

April 18, 2018

In spring of 2018, the Food and Drug Administration (FDA) granted approval for consumer genetics company 23andMe to include information about breast and ovarian cancer risk caused by three BRCA1/BRCA2 mutations more prevalent among Ashkenazi Jews than other populations in the report it provides to users of its ancestry and health service. The FDA made their decision after a review process that determined that 23andMe’s test and results met appropriate benchmarks for accuracy. However, as the FDA’s press release noted, these three mutations constitute less than 1% of known BRCA1/BRCA2 mutations, and the receipt of these test results without guidance from a physician or genetic counselor may place individuals at risk for other harms.

The Norton & Elaine Sarnoff Center for Jewish Genetics cautions regarding the use of direct-to-consumer (DTC) testing such as the 23andMe test to determine one’s personal risk for hereditary cancer. Read the full statement.  

Facts About BRCA Mutations

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 control cell growth and cell death. We all carry these genes, but people who carry mutated forms of the BRCA1 and BRCA2 genes have a predisposition to certain types of cancer.  Women and men who carry a mutation, regardless of whether they develop cancer, have a 50% chance of passing the mutation on to the next generation.

• Approximately 1 in 40 individuals of Ashkenazi Jewish descent carries a BRCA mutation. Individuals who carry a BRCA1 or BRCA2 mutation or those with a strong family history are considered "high risk." The Ashkenazi carrier rate is at least 10 times higher than for the general population.
• In addition to breast and ovarian cancer, BRCA1 and BRCA2 mutations also increase the risk of male breast cancer, prostate cancer, pancreatic cancer and melanoma. Cancers in people with hereditary risk tend to develop at younger ages 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.
  

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
• Mammography
• 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
• Childbearing, tubal ligation (“having your tubes tied”) and the use of oral contraceptives have all been identified as possible protective factors against ovarian cancer (note: these are not as effective as preventive surgery). Breastfeeding is also a possible protective factor against both breast and ovarian cancer.