BRCA1 Gene Mutation

BRCA1 is a gene that helps repair damage to your DNA. People who are born with changes—called mutations—in the BRCA1 gene have an increased risk for certain types of cancer.   

People with an inherited mutation in BRCA1 have an increased risk for the following cancers:

• breast
• fallopian tube
• ovarian
• pancreatic
• prostate
• other cancers

Although the lifetime risk for cancer with a BRCA1 mutation is very high, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable stage.

Men and women can carry a BRCA1 mutation. BRCA1 mutations can be passed down from fathers or mothers to their sons and daughters. 

Some of the signs that may indicate a BRCA1 mutation runs in the family include:

• breast cancer diagnosed before age 50.
• breast cancer in both breasts, or two separate diagnoses of breast cancer.
• triple-negative breast cancer, ovarian cancer, pancreatic cancer or metastatic prostate cancer at any age. 
• multiple relatives on the same side of the family with breast, ovarian, pancreatic or prostate cancer. 

This is not a complete list. Visit this page for more signs of an inherited mutation in the family. FORCE recommends speaking with a genetic counselor who can help make informed decisions about genetic testing. 

BRCA1 is a gene. Genes do not skip generations.

Mutations in the BRCA1 gene may be passed down from parents to children, but mutations do not skip generations either. Each person with a BRCA1 mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's BRCA1 mutation cannot pass the mutation to their children. 

Cancer can skip generations.

Some people with a BRCA1 mutation never develop cancer. They can still pass their mutation on to their children. A child who inherits their parent's BRCA1 mutation will be at increased risk for cancer. If a parent with a mutation never develops cancer, but their child who inherited their mutation develops cancer, it can appear as though the mutation has skipped a generation. 

Genetic testing is a type of medical test that can help people learn if they have an inherited mutation in BRCA1 and other genes. The test can be performed on blood, saliva or tissue. The sample is collected and sent to a genetic testing lab. 

It's a good idea to speak with a genetics expert before having genetic testing. They will answer your questions about testing and ensure that the correct test is ordered. 

Anyone with a close relative (first-, second-, or third-degree relative who has tested positive for an inherited mutation should speak with a genetics expert about genetic testing.

Anyone with a personal or family history of cancer consistent with the signs listed above should speak with a genetics expert about genetic testing. 

In most situations, the cost of genetic testing is covered by insurance. Depending on your situation, deductibles and co-pays may apply. 

In most cases, people can get genetic testing for $300 or less. In certain situations, people may be able to get genetic testing with no out-of-pocket costs. The cost to you may depend on several factors, including:

• your insurance coverage.
• the type of genetic test that was ordered.
• your personal and family history of cancer.

Some labs offer financial assistance to cover the cost of genetic testing for people who are experiencing financial hardship. 

Genetic testing can be performed using a saliva or blood same collected at your doctor's office or at a lab. In many cases, your doctor or genetic counselor can order a saliva test kit that can be sent directly to your home. Once the lab has received the sample, results are usually available 2-6 weeks later. 

If you test positive for a BRCA1 mutation, you have options for screening, prevention and treatment of hereditary cancer. There are expert guidelines and clinical trials that focus on:

• cancer risks with a BRCA1 mutation
• screening, early detection and risk-reduction
• treatment

These guidelines are based on the most current research and updated yearly. People who test positive for a BRCA1 mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information. 

If you test positive for a BRCA1 mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert. 

Fanconi Anemia (FA) is a rare and serious childhood disease that occurs in children who inherit two BRCA1 mutations, one from each parent. Children who have FA have blood problems, physical and developmental issues, and an increased risk of certain cancers.