While BRCA1 and BRCA2 gene mutations may increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determining breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.

Odds can also vary depending on a person’s ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.

Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:

• Breast cancer diagnosed before age 50.
• Male breast cancer at any age.
• Multiple relatives on the same side of the family with breast cancer, particularly if they are first-degree relatives (mother, sister, daughter).
• Multiple breast cancers in the same woman, meaning breast cancer developing in both breasts over time or at the same time.
• Both breast and ovarian cancer in the same woman.
• A history of ovarian cancer in the woman’s family, especially if a first-degree relative.
• Ashkenazi Jewish heritage.
• A significant history on the same family side (mother or father’s side) of men diagnosed young with prostate cancer, ovarian cancer, melanoma, or pancreatic cancer. (These can be signs of a BRCA2 gene mutation present in the family.)

There are also other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

How To Get BRCA Genetic Testing

Genetic counseling is recommended for those who are interested in being tested for breast cancer gene mutations. You can talk to a doctor about getting a referral to a genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors. Since many genetic tests only look for one specific gene mutation, the counselor can often help determine which mutations to test for.

The genetic test itself simply involves taking a small sample of blood or saliva, which is sent to a lab for analysis. Results can take several weeks or months.

Genetic testing results are not always clear-cut:

• A test result can be positive, meaning that the patient does carry the gene mutation.
• A negative test result indicates that they do not have that particular known gene mutation. It does not, however, rule out the possibility of having mutations in other genes. It also does not rule out the possibility of developing breast cancer. Most breast cancer cases are not hereditary, so everyone should still have an early detection plan.
• Genetic test results can also be uncertain or ambiguous. An ambiguous test result means that a mutation has been found on the gene, but it is not yet known whether that particular mutation has any effect on the chances of developing breast cancer.
• Someone is either negative or positive. Over time, a person cannot go from being negative to being positive or vice versa for the specific gene mutations they were tested for.

After receiving genetic test results, a patient should meet again with a genetic counselor to clarify what the results mean. Whether the results are positive, negative, or ambiguous can impact many life decisions, and a counselor can help navigate those decisions.

Genetic testing can be scary. The results also can impact other family members such as siblings and offspring; when someone tests positive for a gene mutation, their siblings and offspring will have a 50% risk of also testing positive. Having a discussion with a genetics counselor first is encouraged so a discussion about the potential scenarios can take place.

For a woman who tests positive for BRCA1 or BRCA2 gene mutation, bilateral mastectomies are usually recommended particularly if she has just been diagnosed with breast cancer.

The post Genetic Testing for Breast Cancer appeared first on National Breast Cancer Foundation.

Family history is one of the unavoidable genetic risk factors for developing breast cancer. Ongoing research is helping identify the genes that are responsible for this inherited increased risk. BRCA1 and BRCA2 gene mutations are currently the best-known and most discussed genetic risk factors, but new genetic links are being discovered regularly.

Below are a number of other genes that are known to influence breast cancer risk. In each case, having a normal and healthy copy of the gene decreases the risk of developing breast cancer. The risk only increases if the gene is mutated or abnormal, and therefore does not perform its natural cancer-prevention functions.

• PALB2 – After BRCA1 and BRCA2, PALB2 is currently the third most prevalent breast cancer gene. PALB2 is short for “Partner And Localizer of BRCA2.” In other words, it works in partnership with the BRCA2 gene to repair DNA damage and thereby prevent breast cancer from developing. An estimated 35% of women with a mutated PALB2 gene will develop breast cancer by age 70.
• CHEK2 – “Checkpoint Kinase 2,” or CHEK2, creates a protein that helps suppress tumor growth. Having a mutated CHEK2 gene doubles the risk of breast cancer in women. In men, it makes male breast cancer 10 times more likely to occur.
• CDH1 – CDH1, or “CaDHerin 1,” is a tumor suppression gene that helps groups of cells stick together to form organized tissues. A mutation in the CDH1 gene can increase the risk of forming lobular breast cancer, or cancer that begins in the breast’s milk-producing lobules. Since the gene normally helps cells stick together, a mutation can also make it easier for individual cancer cells to break off from a breast tumor and metastasize, or spread to other parts of the body.
• PTEN – The “Phosphatase and TENsin homolog” (PTEN) gene helps prevent tumor growth by controlling the rate of cell division. It also causes damaged cells to self-destruct before they can become cancerous. Like CDH1, PTEN also plays a role in helping cells stick together, which can help prevent cancer from spreading.
• STK11 – “Serine/Threonine Kinase 11” is another tumor suppressor. STK11 gene mutations cause Peutz-Jeghers syndrome. Peutz-Jeghers syndrome carries an increased risk for multiple types of cancer, including breast cancer.
• TP53 – Also known as P53 (and nicknamed the “guardian of the genome”), “Tumor Protein p53” recognizes when a cell’s DNA has been damaged. It then either activates a DNA repair gene (like BRCA1) or causes the cell to self-destruct. If TP53 is mutated, the damaged DNA won’t be repaired and the cell will live on, perhaps becoming a cancer cell. Though some TP53 mutations are inherited, most of them occur during a person’s lifetime and are only found in cells that become cancerous.

More Genes

There are a number of other genes, including ATM, BARD1, BRIP1, CASP8, CTLA4, CYP19A1, FGFR2, H19, LSP1, MAP3K1, MRE11A, NBN, RAD51, and TERT, that are thought to also increase the risk of developing breast cancer when they carry a mutation. There is also a rare gene mutation called Cowden Syndrome that links breast cancer, uterine cancer, thyroid cancer, and large head circumference together.

While you cannot change your genetics or family history of breast cancer, knowing that you are at a higher risk can help with creating an early detection plan to detect breast cancer in its earliest stages, while it is still localized (there is no sign that the cancer has spread outside of the breast), and easier to treat.

Some people with a family history of breast cancer may choose to undergo genetic counseling and genetic testing to see if they have inherited genes that increase the risk of the disease. It is also advisable to maintain an accurate family medical history to determine if there is a significant family history of breast cancer or other illnesses.

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All inherited traits are passed down through genes. Each person has two copies of every gene: one gene from each parent. Since each parent passes down exactly half of their genes to each child, any of the parent’s genetic traits has a 50% chance of being passed on to their offspring.

What Is BRCA?

The name “BRCA” is an abbreviation for “BReast CAncer gene.” BRCA1 and BRCA2 are two different genes that have been found to impact a person’s chances of developing breast cancer.

Every human has both the BRCA1 and BRCA2 genes. Despite what their names might suggest, BRCA genes do not cause breast cancer. In fact, these genes normally play a big role in preventing breast cancer. They help repair DNA breaks that can lead to cancer and the uncontrolled growth of tumors. Because of this, the BRCA genes are known as tumor suppressor genes.

However, in some people these tumor suppression genes do not work properly. When a gene becomes altered or broken, it doesn’t function correctly. This is called a gene mutation.

BRCA Mutations

A small percentage of people (about one in 400, or 0.25% of the population) carry mutated BRCA1 or BRCA2 genes. A BRCA mutation occurs when the DNA that makes up the gene becomes damaged in some way.

When a BRCA gene is mutated, it may no longer be effective at repairing broken DNA and helping to prevent breast cancer. Because of this, people with a BRCA gene mutation are more likely to develop breast cancer, and more likely to develop cancer at a younger age. The carrier of the mutated gene can also pass a gene mutation down to his or her offspring.

BRCA Mutation Risks

It is estimated that one in eight women, or approximately 12%, will be diagnosed with breast cancer in her lifetime.

However, women with certain genetic mutations have a higher lifetime risk of the disease. It’s estimated that 55 – 65% of women with the BRCA1 mutation will develop breast cancer before age 70.

Approximately 45% of women with a BRCA2 mutation will develop breast cancer by age 70.

Women with a BRCA1 or BRCA2 mutation who overcome their breast cancer with treatment appear to have a higher-than-average chance of developing a second cancer. This is called a recurrence. Cancers related to a BRCA1 mutation are also more likely to be triple negative breast cancer, which can be more aggressive and difficult to treat.

You may find these statistics alarming. However, it’s important to note that less than 10% of women diagnosed with breast cancer have a BRCA mutation. Also, with early detection, the vast majority of breast cancer cases can be successfully treated—and that’s true even for people who have a BRCA1 or BRCA2 mutation.

Reducing Risks Associated with BRCA Gene Mutations

If you discover you have a BRCA1 or BRCA2 gene mutation, there are preventative measures you can take to help reduce your risk of developing breast cancer in the future. One of these measures may be taking a form of hormone therapy, such as tamoxifen. Another preventative measure may include taking a surgical prevention approach, such as a bilateral prophylactic mastectomy. This involves removing the breast tissue as a preventative measure, before cancer develops, and is usually done along with breast reconstruction. Some women may also opt to have their ovaries and fallopian tubes removed since BRCA gene mutations increase the risk of developing ovarian cancer as well. However, you should discuss all options available to you, and the benefits and risks of each, with your healthcare provider.

The post BRCA: The Breast Cancer Gene appeared first on National Breast Cancer Foundation.

Early Detection Plans

People with BRCA or PALB2 gene mutations have a higher-than-average chance of developing breast cancer, and are more likely to develop it at a younger age. Women with a BRCA1 or BRCA2 mutation can have a 45 – 65% chance of being diagnosed with breast cancer before age 70. For PALB2 mutations, 33% will develop breast cancer by that age.

The good news is that, with this knowledge, you can create a custom early detection plan with your doctor to increase the chances that your breast cancer is detected early. Early detection makes breast cancer far easier to treat. Overall, the five-year relative survival rate for breast cancer detected in the localized stage (there is no sign that the cancer has spread outside of the breast) is 99%.

An early detection plan for someone with a BRCA or PALB2 gene mutation will likely involve more frequent breast cancer screenings starting at a younger age. It may also involve different types of screenings, such as ultrasound or MRI scans. Your doctor can help recommend which screenings you should have, and when you should have them.

Preventative Surgery

Though some consider it extreme, women with high-risk BRCA mutations may choose to undergo preventative surgery to help reduce the risk of developing breast cancer.

A preventative double mastectomy (or bilateral prophylactic mastectomy) is the surgical removal of both breasts before cancer has a chance to develop and/or spread. There are different types of preventative mastectomies; some remove the entire breast, while others leave the skin and nipples intact to aid in breast reconstruction surgery.

Actress and filmmaker Angelina Jolie drew public attention to using surgery to proactively address BRCA gene mutations when she publicly shared her story of undergoing a preventative double mastectomy. She later chose to also have her ovaries and fallopian tubes removed, a procedure known as a preventative salpingo-oophorectomy.

Removing ovaries and fallopian tubes are commonly recommended as a way to reduce breast cancer risk, as well as ovarian cancer risk. For women not diagnosed with either type of cancer, it can be helpful to talk with a genetics counselor about the timing of when to do preventative surgeries. If a woman is still of childbearing age, she likely will want to delay getting her ovaries and fallopian tubes removed until she has finished birthing her family.

Though such preventative or prophylactic surgeries decrease the risk of developing breast cancer by more than 90%, they don’t eliminate the risk entirely. Surgery itself also carries its own set of risks and costs, which need to be carefully considered. Your doctor can help you understand the options and risks and make the choice that is right for you.

BRCA, Gene Mutations, And Breast Cancer Treatment

If someone with a BRCA mutation does develop breast cancer, the treatments used may be different than for people who do not carry the gene mutation.

People with BRCA1 mutations are more likely to develop triple negative breast cancer. Triple negative breast cancer does not respond to hormone therapy or certain drugs. However, chemotherapy may be more effective at treating triple negative cases than it is against other types of cancer.

Breast cancer patients with BRCA1 or BRCA2 mutations are also more likely to later develop a second cancer, either in the same or the opposite breast. Because of this, they may opt for a double mastectomy instead of a single or partial mastectomy (also known as lumpectomy). Removing the healthy breast along with the cancerous one is essentially another form of a preventative mastectomy.

Though research is still ongoing, some findings indicate that certain types of cancer treatment drugs might be more effective than others in patients with BRCA gene mutations.

As always, your doctor can help determine which breast cancer treatments are right for you.

Other Considerations

There are many emotions and decisions that come along with a positive BRCA mutation test result. Feelings can range from fear to anger, sadness, or guilt. There can be questions about whether your children or other family members should be tested. For some, it can affect the decision of whether or not to have children. You may have concerns about passing on the mutated gene to your offspring; some women even choose preventative surgeries that can make it difficult or impossible to have children.

Genetic counselors can help you navigate the waters and understand all the risks, decisions, and emotions involved.

Help is available; you don’t have to go through this alone.

The post What To Do If You’ve Tested Positive appeared first on National Breast Cancer Foundation.