09 Aug What is Hereditary Breast and Ovarian Cancer Syndrome (HBOC)?
About 1 in 350 have a Pathogenic BRCA mutation.
1 in 350 Americans
The Healthy Nevada Project research team is looking at the occurrence of important inherited genetic mutations in our population that increase the risk of certain diseases. These include Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndromeand Lynch Syndrome. Research and communication with Healthy Nevada Participants about these risks is starting in the summer of 2018. Early detection of disease causing mutations in the genes associated with these conditions has the power to improve health outcomes in the Healthy Nevada Project participants. The Healthy Nevada Project is excited to roll out more community outreach research projects that benefit the community that has helped this project prosper!
What is Hereditary Breast and Ovarian Cancer Syndrome (HBOC)?
Hereditary Breast and Ovarian Cancer Syndrome, which is an inherited condition that can lead to an increased risk of breast, ovarian, prostate, pancreatic cancer and melanoma(1). It is associated with the BRCA genes(1), which stands for BReast CAncer susceptibility gene(2). There are two BRCA genes that are being reported on by the Healthy Nevada Project: BRCA1 and BRCA2. Everyone has the BRCA1 and BRCA2 genes, therefore a pathogenic BRCA mutation can affect both men and women.
How does one get Hereditary Breast and Ovarian Cancer (HBOC) Syndrome?
HBOC is associated with the BRCA 1/2 genes that make tumor suppressor proteins. An inherited pathogenic mutation in BRCA1/2 can increase the risk of breast, ovarian, and other types of cancer in both men and women(3). While rare, men can get breast cancer and if there is a history of male breast cancer in a family genetic testing can help identify if there is a BRCA mutation(3). If a biological parent has a harmful BRCA gene, there is a 50% chance you will inherit the mutation.
What is the likelihood that I have Hereditary Breast and Ovarian Cancer (HBOC) Syndrome?
In the general population 0.2 to 0.3% of people have a BRCA mutation(4). In Nevada, the population is about 3 million so about 60,000 people would have a BRCA mutation. However, broad population screening and detection of people with BRCA mutations can lead to improved outcomes.
What is the genetic test looking for when testing for Hereditary Breast and Ovarian Syndrome?
The genetic test is looking for mutations on the two genes: BRCA1 and BRCA2.
Are there symptoms Hereditary Breast and Ovarian Cancer (HBOC) Syndrome I should be looking for?
The manifestation of Hereditary Breast and Ovarian Cancer Syndrome is breast, ovarian, and other forms of cancer it is best to leave this to the medical professionals with tests like mammograms, physical exams(5), imaging, and blood panels(6). This is because in most cases there are no physical symptoms for the patient to find until later stages when medical tests are necessary for diagnosis. If you have a BRCA mutation or a family history of cancers you should inform your primary care doctor.
How is a Hereditary Breast and Ovarian Cancer (HBOC) Syndrome diagnosed?
BRCA 1 and BRCA 2 mutations are found through genetic testing. In Healthy Nevada Project participants the DNA from the salvia sample is used for analysis of known pathogenic BRCA mutations.
How will I know if my genetic data has a possible BRCA mutation?
When we have your genetic results the research team at the Healthy Nevada Project will look to see if you have any mutations in the BRCA genes. If you consented to be contacted, a Renown Institute for Health Innovation medical researcher will reach out to you with your results and help guide you through the next steps such as working with your physician or a genetic counselor. For those that are identified to have a possible mutation, we will continue to follow up and confirm you have the necessary information to provide a primary care provider.
What should I do if I have a harmful BRCA mutation?
If your results show a pathogenic mutation on BRCA1/2 it means you have an increased risk of certain cancers. A positive result cannot actually determine if an individual will develop cancer just that they have an increased risk(7). In the general population about 12% of women will have breast cancer, while 72% women with a harmful BRCA1 mutation and/or 69% of women with a harmful BRCA2 mutation will have breast cancer(6). It is best to speak with your healthcare team regarding a positive result and what steps should be taken next.
Why is the Healthy Nevada Project looking at Hereditary Breast and Ovarian Cancer (HBOC) Syndrome?
The CDC Office of Public Health Genomics has provided the public with a list of Genomic Tests by Level of Evidence, ranging from Tier 1 to Tier 3. Tier 1 results have been shown to be important enough that both the patient and your doctor should know the results. Hereditary Breast and Ovarian Cancer Syndrome is considered tier 1 results and appropriate action should be taken by both the patient and doctor to prevent the premature onset of disease.