Hereditary Breast and Ovarian CancerLast Updated: March 02, 2010 This section has been reviewed and approved by the Cancer.Net Editorial Board, 02/10 Overview
What is hereditary breast and ovarian cancer? Hereditary breast and ovarian cancer (HBOC) may be a possible diagnosis when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. The chance that a family has HBOC increases in any of these situations:
What causes HBOC? HBOC is a genetic condition. This means that the cancer risk can be passed from generation to generation in a family. Two genes are associated with HBOC: BRCA1 and BRCA2 (BRCA stands for BReast CAncer). A mutation (alteration) in either of these genes gives a woman an increased lifetime risk of developing breast and ovarian cancers. Men with these gene mutations also have an increased risk of breast cancer and for prostate cancer. Not all families with multiple cases of breast and ovarian cancer have mutations in BRCA1 or BRCA2. Research is ongoing to identify other genes associated with HBOC. How is HBOC inherited? Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. HBOC follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only one copy of the gene for the person to have an increased risk of getting that disease. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. How common is HBOC? Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC. Current estimates are that less than 1% of the general population has a mutation in the BRCA1 or BRCA2 genes and only 10% to 15% of women diagnosed with breast cancer have one of these genes. HBOC is most frequently diagnosed when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. In families with four or more cases of breast cancer diagnosed before age 60, the chance of HBOC is approximately 80%. To compare, the chance of finding HBOC when only one woman has had breast cancer diagnosed under age 50 is estimated to be 10% or less. Individuals with Ashkenazi Jewish ancestry have an increased chance of having HBOC. Three specific gene mutations are common in this group:
It is estimated that about one in 40 individuals with Ashkenazi Jewish ancestry has one of these three mutations. How is HBOC diagnosed? Families with multiple women diagnosed with breast cancer before age 50 and families with both breast and ovarian cancers may be considered to have HBOC. Mutations in the BRCA1 or BRCA2 genes can be diagnosed through a blood test. Since most breast and ovarian cancers are sporadic, genetic testing is only recommended for people who have a personal family history that suggests HBOC. Testing for mutations in the BRCA1 or BRCA2 genes may not be beneficial for the average woman. What are the estimated cancer risks associated with HBOC? Cancer risks for women with HBOC
Cancer risks for men with HBOC
Other cancer risks for people with HBOC Both men and women with mutations in the BRCA2 gene may be at increased risk of other types of cancer, including pancreatic cancer and melanoma. Researchers are investigating other cancer risks for men and women with BRCA1 gene mutations, as well. What are the screening options for HBOC? It is important to discuss with your doctor the following screening options, as each individual is different: Screening for women
Screening for men
Screening options may change over time as new technologies are developed and more is learned about HBOC. It is important to talk with your doctor about appropriate screening tests. Learn more about what to expect when having common tests, procedures, and scans. Questions to ask the doctor If you are concerned about your risk of breast cancer or ovarian cancer, talk with your doctor. Consider asking the following questions of your doctor:
If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:
Additional resources The Genetics of Ovarian Cancer The Genetics of Prostate Cancer What to Expect When You Meet With a Genetic Counselor Facing Our Risk of Cancer Empowered (FORCE) Breast Cancer Network of Strength Young Survival Coalition National Ovarian Cancer Coalition (NOCC) National Cancer Institute American Cancer Society CancerCare To find a genetic counselor in your area, ask your doctor or visit the following websites: National Society of Genetic Counselors National Cancer Institute: Cancer Genetics Services Directory |
