Testing positive for a BRCA1 or BRCA2 pathogenic variant means you have an inherited genetic change that increases your lifetime risk for certain cancers like breast, ovarian, prostate, and pancreas. It does not mean that you have cancer or that you will necessarily develop cancer. Your next steps may include genetic counseling, personalized cancer screening, and discussions about options to manage or reduce your cancer risk.
What does a positive BRCA test result mean?
For both males and females, a positive genetic test result means that a harmful (pathogenic) mutation has been detected in one or more of the genes on the genetic testing panel that increases your risk of certain cancers. The genetic result report will indicate which gene/s have a pathogenic mutation and the specific mutation location. This result means that you have increased cancer risks and need to be managed differently. Once a cancer risk gene mutation has been found in a family, relatives may wish to consider genetic testing to better understand their risk for cancer.
What cancer risks are associated with BRCA1 and BRCA2 mutations?
Cancer risks are gene dependent. This means that the risk for a specific type of cancer and the estimated future lifetime risks for those cancers can vary gene to gene. When an individual undergoes genetic testing and a BRCA1 and/or BRCA2 gene mutation is identified , this means that they have an inherited mutation that puts them at increased risk for certain cancers. The cancer risks associated with BRCA1 and BRCA2 gene mutations are presented as ranges (see table below), since cancer risk may vary in different families or population groups. Some studies and laboratories report slightly higher or lower risks than what is summarized in the table.
If you are determined to be a carrier of a BRCA1 and/or BRCA2 pathogenic gene mutation, this means that a person who inherited a mutation in either gene and is at increased risk for certain cancers. The cancers most commonly associated with BRCA mutations are breast (male and female), ovarian, prostate and pancreatic cancers, as well as melanoma. The cancer risks associated with BRCA1 and BRCA2 in men and women carrying mutations are presented as ranges.
Lifetime BRCA1 and BRCA2 Cancer Risks:
[INSERT RISK CHART - TO BE UPDATED]
Why are cancer risks presented as ranges in this chart?
The cancer risks associated with BRCA1 and BRCA2 in men and women carrying mutations are presented as ranges since cancer risk may vary in different families or population groups. As more individuals undergo genetic testing and more studies to assess cancer risk are published, our understanding of cancer risk in individuals with BRCA1 and BRCA2 mutations will continue to evolve. For these reasons, risk estimates may vary from one source to the next and as research advances.
Where in the range of risk do I fall?
At this time, we cannot predict where any individual will fall in the risk range. There are other genetic and lifestyle factors that can influence or modify cancer risk associated with mutations in BRCA1 and BRCA2. Discovering these factors and refining our understanding of the risk associated with them may help us provide a more accurate individual risk assessment. The Basser Center is actively working on studies to uncover the factors that may help individualize risk assessment.
Do all people with BRCA mutations develop cancer?
People with mutations in BRCA1 or BRCA2 may develop one or more cancers, or they may not develop cancer at all. Unfortunately, being diagnosed with one type of cancer does not mean that other cancer risks no longer apply. For example, women with a BRCA mutation with breast cancer are at increased risk of developing a second new breast cancer and other cancers.
Can I have other hereditary cancer gene mutations?
While it is known that mutations in the BRCA1 and BRCA2 genes are the main causes of inherited breast and ovarian cancer risk, it is also known that there are other genes that impact a person’s cancer risk. In the past, genetic testing for cancer predisposition was done by looking at one or two genes, often BRCA1 or BRCA2, based on the pattern of cancers in a family. Recently, gene panel tests have been developed, which look for mutation in many genes at the same time in a single test. Your genetics provider can discuss the pros and cons or gene panel test and whether they are appropriate for you and your family.
Hereditary Cancer Gene Mutations:
How do I manage my hereditary cancer risk?
I have tested positive for a gene mutation, but I already have cancer. What should I do?
Genetics is a constantly evolving field. Questions about testing for additional genes that may increase cancer risk should be directed to your genetic provider. If you had genetic testing 10+ years ago ask a genetic counselor if you are a candidate for updated testing.
If you have recently tested positive for BRCA1, BRCA2 or other hereditary cancer gene mutations, please call please call 215-349-9093 to learn more from a provider trained in genetics at Penn Medicine’s MacDonald Cancer Risk Evaluation Program.
You can also search the National Society of Genetic Counselors 'Find a Genetic Counselor' tool or contact your local cancer center. Genetic counselors who perform BRCA testing are often a part of the breast group of academic medical centers or cancer centers and may be able to connect you with a physician with expertise in hereditary cancer for medical management guidance.
Are there other cancer risks for BRCA mutation carriers?
In addition to the cancers commonly associated with BRCA mutations (breast, ovarian, prostate, pancreatic, melanoma), men and women with BRCA mutations appear to have a slightly increased risk of developing cancers in general. Therefore, regular medical follow-up with prompt attention to symptoms is strongly encouraged. For example, unexplained weight loss, unexplained and persistent pain, swollen lymph nodes, and sores that do not heal should be evaluated by a physician.
General cancer screening recommendations, such as colonoscopy and cervical cancer screenings, should also be followed in addition to the more intensive cancer screening recommended for BRCA1 and BRCA2-related cancers.
What is cancer risk management?
A personalized cancer risk management program can be developed for individuals known to be at increased cancer risk due to a mutation in BRCA1 or BRCA2 or other hereditary cancer risk genes. You and your doctors will ultimately decide what plan makes the most sense for you. To find an NCI-Designated Cancer Center near you and to learn more about each center's specific research capabilities and programs, including clinical cancer genetics programs, visit the National Cancer Institute website.
Cancer risk management generally includes the following categories:
- Intensive screening to increase the chances of early detection, should cancer develop.
- Prophylactic or risk reducing surgical removal of ovaries and consideration of prophylactic removal of the breasts.
- Chemoprevention, which is taking a medicine shown to lower the chances of developing cancer.
What cancer screenings are recommended for individuals with a BRCA mutation?
View the current guidelines for cancer screenings on our website.
What are reproduction considerations for individuals with a BRCA mutation?
How likely is it for a BRCA1 and BRCA2 mutation to be passed down?
A man or woman who has a mutation in BRCA1 or BRCA2 has a 50% chance of passing the mutated gene on to each of their children (son or daughter), and a 50% chance of passing along the normal copy of the gene to each of their children (son or daughter). A parent with a BRCA mutation may pass the mutation along to one, some or none of their children.
Gene mutations in BRCA1 and BRCA2 do not skip a generation. A child who does not inherit a BRCA mutation from a parent cannot then pass a BRCA mutation to the next generation.
What if I don't want to pass a BRCA gene mutation onto my children?
Many BRCA carriers accept the 50% risk of passing on a BRCA mutation to their children. The decision to use reproductive technologies to avoid passing on genetic diseases is a very personal decision.
Preimplantation genetic diagnosis testing (PGT) is a reproductive technology that may be an option for individuals who wish to minimize the chance of passing a known gene mutation to a child. This procedure is used in combination with in vitro fertilization (IVF) to test embryos (fertilized eggs) for a specific gene mutation, such as a BRCA1 or BRCA2 mutation.
PGT does not guarantee transferred embryos will lead to a full-term, healthy pregnancy. PGT is costly and coverage can vary greatly depending on insurance plan. Those who are interested in PGT may discuss in greater detail with their genetics providers and may be referred to a fertility clinic specializing in this service for more information.
Basser Executive Director, Dr. Susan Domchek and and fertility expert, Dr. Jaime Knopman, discuss the process of freezing eggs and embryos and undergoing pre-implantation genetic testing.
What are my next steps?
If you or a family member have tested positive for a cancer predisposition gene mutation, fill out the form below to contact or meet with a provider trained in genetics to begin discussing your medical management plan.
How do I schedule an appointment at Penn Medicine?
To schedule an appointment for genetic risk evaluation or management of hereditary cancer risks at Penn Medicine:
- If new to Penn Medicine: call the New Patient Office at 215-615-5858
- Once you are registered or if you are an existing Penn Medicine patient, please contact the MacDonald Cancer Risk Evaluation Center at 215.349.9093 or CREPteam@pennmedicine.upenn.edu.
Where can I find a genetic counselor in my area?
To find a genetic counselor in your area, visit the National Society of Genetic Counselors or contact your local academic medical center.
How do I find an NCI-Designated Cancer Center in my area?
To find an NCI-Designated Cancer Center near you and to learn more about each center's specific research capabilities and programs, including clinical cancer genetics programs, visit the National Cancer Institute. In addition, many teaching hospitals and larger community hospitals have clinical genetics programs.
Support and Resources for Family Members
Our website includes the BRCA resources you need to answer your questions related to BRCA gene mutations. The Basser Center offers individuals and families affected by hereditary cancer support through patient stories, blogs, video, and more. We also offer a list of trusted partners and organizations that can connect you to support networks and additional services.
It's important to share important hereditary health information with family members. For suggestions on how to communicate with family members about hereditary cancer risks and care, please read our family letter.
The information provided on this page is for educational purposes and is not a substitute for medical advice. Cancer risk and screening recommendations vary based on your genetic result, personal and family history, and other factors. Talk with a qualified healthcare professional or genetic counselor about your individual situation.