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Hereditary Breast & Ovarian Cancer Syndrome

Hereditary breast and ovarian cancer syndrome is a genetic condition that increases the odds of a person developing several cancers, as well as developing them at a younger age than normal. These cancers include:

This syndrome is caused by a mutation in one of two genes, BRCA1 and BRCA2.

Genes are the set of instructions that tell cells what to do. A gene mutation is a change in a gene’s DNA that causes that gene to stop working.

The BRCA1 and BRCA2 genes both make proteins that help repair damaged DNA. The mutated genes are not able to make these proteins. This lets some cells with damaged DNA turn into cancer cells.

People with a personal and/or family history of breast cancer, ovarian cancer, pancreatic cancer or prostate cancer may meet the criteria to test for a BRCA mutation.

Genetic testing may be especially important for people recently diagnosed with one of these cancers. They may need different treatments than those without a mutation.

Talk to your doctor about whether you qualify for genetic counseling and testing.

BRCA genes and breast cancer

Without a BRCA mutation, women have about a 12% chance of developing breast cancer at some point in their life. Women with one of the BRCA mutations have about a 50%-70% chance of being diagnosed with breast cancer.

Up to 10% of women with breast cancer have a BRCA mutation.

Men with a BRCA mutation see their chance of developing breast cancer go from around 1% or less to about 2%-7%. Learn more about male breast cancer.

BRCA genes and ovarian cancer

Women without a BRCA mutation have around a 1%-2% chance of developing ovarian cancer in their life. Women with a BRCA1 mutation have around a 40% chance. Women with the BRCA2 mutation have about a 15%-30% chance.

About 10%-20% of women with ovarian cancer have a BRCA gene mutation.

BRCA genes and prostate cancer

Men without a BRCA mutation have about a 10% chance of developing prostate cancer at some point. With a BRCA mutation, the odds range from 15%-40%.

Melanoma, pancreatic cancer and BRCA

BRCA mutations increase the chance of developing both pancreatic cancer and melanoma of the skin. The increases are not as big as they are for other cancers, though.

The lifetime risk for developing pancreatic cancer is less than 2% for people without a BRCA mutation. With a mutation, the risk is about 5%-10%.

For melanoma of the skin, the risk is elevated but not clearly defined. A person’s risk also depends heavily on the disease’s standard risk factors, like having light skin and history of sunburns.

Genetic testing for BRCA: family history and risk assessment

In most cases, BRCA gene mutations are passed down from parent to child.

If a person has one of these mutations, their children have a 50% chance of inheriting the mutation. Their parents and siblings also have a 50% chance of having this mutation. Blood relatives of people with a mutation, including aunts, uncles and cousins, may also carry the mutated gene.

Genetic testing for BRCA mutations

When a person is diagnosed with a BRCA mutation, their parents, siblings and children should meet with a genetic counselor to discuss genetic testing. They typically only need to give a blood or saliva sample to test for the inherited mutation.

Testing an individual’s parents can reveal which side of the family the mutation was inherited from. Blood relatives on that side of the family, including aunts, uncles and cousins, should also consider genetic counseling.

If parents are unavailable for testing, both sides of the family should consider genetic counseling. During a genetic counseling appointment, the counselor will review personal and family medical history and discuss genetic testing options.

If you get genetic testing, a genetic counselor will explain your test results to you. If you are diagnosed with a BRCA mutation, your genetic counselor and health care providers will talk to you about cancer prevention and screening options. They will also talk to you about your life plans and how these could be impacted by a BRCA mutation. They can also direct you to doctors and services that can help you most.

Learn more about genetic testing.

Managing BRCA risk: breast and ovarian cancer screening and surgery

Women with a BRCA mutation should begin breast self-examinations starting at age 18. At age 25, they should get yearly breast magnetic resonance imaging (MRI) exams. At 30, they should alternate between a breast MRI and a mammogram every six months. Learn more about breast cancer screening.

Women can get blood tests and transvaginal ultrasounds to screen for ovarian cancer. Learn more about ovarian cancer screening.

BRCA gene mutations and surgery for women

Many women with a BRCA gene mutation get surgery to stop cancer from developing.

The National Comprehensive Cancer Network (NCCN) recommends that women with a BRCA gene mutation discuss having a double mastectomy with their doctors.

There are many different ways surgeons can perform a double mastectomy. These include surgeries that preserve the nipples and areolas and surgeries that are paired with immediate breast reconstruction. A breast surgeon and reconstructive surgeon can explain your options. Learn more about breast reconstruction.

To prevent ovarian cancer, the NCCN recommends women have their ovaries and fallopian tubes removed.

For women with a BRCA1 mutation, surgery is recommended between the ages of 35-40. For BRCA2, between 40-45.

These are only guidelines, and women can discuss surgery timing with their doctors.

Since removal of breasts and ovaries have impacts on the ability to conceive and breastfeed, many women with a BRCA mutation can delay breast and/or ovarian surgeries until after they have given birth and breastfed. Women should talk with their care team about their goals around family planning. If they choose to delay surgery, their care team can develop a plan for more frequent cancer screenings.

Women considering having their ovaries and fallopian tubes removed prior to having children and who still want to have biological children can also talk to their doctor about fertility options, such as in vitro fertilization.

Learn more about fertility and cancer.

Managing BRCA risks: screenings for men

Starting at age 40, men with BRCA2 mutations should get yearly blood tests to check their levels of prostate specific antigen. High levels may be a sign of prostate cancer. Men with BRCA1 mutations should consider this screening at age 40 as well. Learn more about prostate cancer screening.

Starting at age 35, men with BRCA1 and BRCA2 mutations should start breast self-exams and clinical breast exams. Men should also consider an annual mammogram starting at age 50 or 10 years before the earliest known breast cancer in the family, whichever comes first. This is especially important for men with a BRCA2 mutation, which carries the higher risk of causing breast cancer. Learn more about breast cancer screening.

Managing BRCA risks: pancreatic cancer and melanoma screening

Patients with a BRCA1 mutation should get screened for pancreatic cancer only if they have a family history of the disease. Those with a BRCA2 mutation should start screening at whichever comes first: