About BRCA

About BRCA

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What is Cancer?

Cancer is a disease in which some of the body’s cells grow uncontrollably and spread to other parts of the body. (source)

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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. (source)

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What are BRCA1 and BRCA2?

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent. (source)

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When was BRCA discovered?

The discovery of BRCA1 and BRCA2 was reported in the years 1994 and 1995, respectively. Mutations in these genes were found to be responsible for the hereditary breast and ovarian cancer (HBOC) syndrome. (source)

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Who Discovered BRCA?

Mary-Claire King identified BRCA1 and BRCA2, showing that mutations in these genes cause breast and ovarian cancer. (source)

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What is the Ovarian CA gene?

Variants in the BRCA1 or BRCA2 genes account for most hereditary ovarian cancers. About 15% of women who develop ovarian cancer have a variant in either their BRCA1 or BRCA2 gene. (source)

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What are the BRCA1 & BRCA2 Genes?

The BRCA1 and BRCA2 genes are the most commonly affected in hereditary breast and ovarian cancer. Mutations in these genes increase the risk of these cancers. BRCA1-associated cancers are generally triple negative, while BRCA2-associated cancers are often estrogen receptor positive. (source)

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Who is most susceptible to BRCA (1 & 2) mutations?

Individuals with a strong family history of breast or ovarian cancer are more likely to have BRCA mutations. This includes those with multiple relatives with breast cancer, early-onset breast cancer, or a known BRCA mutation. (source) (source)

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What age should testing be done for BRCA?

It is typically recommended that individuals wait until they are closer to an age where BRCA mutation would affect medical management—around 25 for women and mid-30s to early 40s for men. (source)

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What is BRCA testing?

BRCA testing is a blood test that looks for mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancer. (source)

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What if you test positive or negative?

A positive result indicates a mutation associated with hereditary breast and ovarian cancer. A negative result means no mutation was found, but the implications depend on your personal and family health history. (source)

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What it means for you:

A positive result means you can take steps to reduce your cancer risk or to detect cancer early. It can also guide treatment decisions if you have cancer. (source 1) (source 2)

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What it means for your family:

Family members may also be at increased risk for breast and ovarian cancer if you have a BRCA mutation. They might consider testing to assess their own risk. (source) (source)

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What it means for you (if you had cancer):

If you have cancer and test positive for a BRCA mutation, it may impact treatment choices and inform options for further prevention or monitoring. (source) (source)

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What is a genetic counselor?

A genetic counselor is a trained professional who helps individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. (source)

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What’s the difference between a geneticist and a genetic counselor?

A geneticist is a physician or scientist who studies genetics and can provide medical management for genetic conditions, while a genetic counselor provides guidance and support for understanding genetic risks and implications. (source)

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What will my insurance cover and not cover?

Insurance coverage for genetic testing can vary widely. It often covers the cost of BRCA testing if it is deemed medically necessary but may not cover all aspects, such as counseling or follow-up care. (source)

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When deciding on a treatment plan:

When deciding on a treatment plan, consider factors such as the type and stage of cancer, your overall health, and your personal preferences. (source)

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What are my treatment options?

Treatment options for breast and ovarian cancer should be discussed with your medical doctor. (source)

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What do you recommend and why?

The recommendation will depend on individual factors such as cancer type, stage, and patient preferences. It’s best to discuss all options with your healthcare provider. (source)

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What would the goal of the treatment be?

The goal of treatment could be to cure the cancer, control its growth, or reduce symptoms. The specific goal will depend on the individual’s situation. (source) (source)

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What should I do to be ready for treatment? (ACS)

To prepare for treatment, follow your doctor’s instructions, make lifestyle adjustments as needed, and ensure you have a support system in place. (source)

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What types of testing are needed and for whom?

Testing may include genetic tests, imaging tests, and biopsies. The specific tests needed will depend on the individual’s health history and cancer risk. (source)

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What types of tests are available for BRCA (ovarian testing)?

Testing for BRCA mutations typically involves a blood test or saliva test to analyze DNA. There are also specific tests for ovarian cancer that look for mutations in BRCA genes. (source)

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What/Who are Ashkenazi Jews?

Ashkenazi Jews are Jews of Central and Eastern European descent. They have a higher incidence of BRCA mutations compared to other populations. (source) (source) (source)

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What Is an Ashkenazi Jewish Genetic Panel (AJGP)?

The Ashkenazi Jewish Genetic Panel tests for several genetic mutations that are more common in Ashkenazi Jews, including BRCA1 and BRCA2. (source)

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What Is Carrier Screening?

Carrier screening is a test used to determine whether a person carries a gene for a genetic disorder. This is often done to assess the risk of passing a genetic condition to offspring. (source)

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Who Should Be Tested?

Individuals with a family history of genetic disorders or those belonging to populations with higher risks of genetic conditions should consider testing. (source)

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What If You Are a Carrier?

If you are a carrier, it means you have a genetic mutation that could be passed to your children. It is important to discuss this with a genetic counselor to understand the implications for your family. (source)

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