Genetic Characteristics and Testing

Genetic Characteristics and Testing

 

Understanding Genetic Characteristics & Testing


Genetic characteristics, also known as biomarkers, can help you understand how your body’s cells, or genes, are programmed and your risk for certain diseases, such as cancer.1 Learning about the types of biomarkers that may be present in your cells is an especially important step for those with advanced ovarian cancer and their loved ones.2

There are many different types of genetic characteristics, but the most common ones associated with ovarian cancer are BRCA and HRD.3,4 There are tests available that can tell you your BRCA and HRD status. These tests are referred to as Genetic testing and Genomic testing and can be used to assess the potential risk of developing cancers such as ovarian cancer, and for those already diagnosed, may help determine eligible treatment options, including maintenance therapy.5 Read below to learn some of the basic differences of each test.

 

 

Genetic Testing3,5
A Genetic test looks for mutations on specific parts of DNA, called genes, that may have been passed down by a family member.
BRCA1 and BRCA2 Testing
Testing can be done at any time, before or after a diagnosis, though it is typically used to assess potential risk of cancer, particularly if you have a family history.
Testing is typically done during a specialized doctor’s office visit, and consists of a blood or saliva sample taken by a professional.
Testing for genetic characteristics can help determine if a person has an increased risk for developing cancer. It does not predict whether someone will develop cancer. Your BRCA status can also impact treatment eligibility, such as treatment with maintenance therapy.
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Definition

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Example

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Timing

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Method

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Significance

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Genomic Testing5
A Genomic test looks more widely at all of your DNA, rather than specific parts of your DNA.
HRD Testing
Testing is done following diagnosis of cancer.
Testing is done on the tumor itself, and includes taking a sample of your blood or the tumor, via a biopsy or surger.
Genomic testing can help assess personalized treatment down the line, such as maintenance therapy. Because of this, HRD testing happens after you or your loved one has been diagnosed with cancer, like ovarian.
Genetic Testing3,5

Definition

Example

Timing

Method

Significance

 
A Genetic test looks for mutations on specific parts of DNA, called genes, that may have been passed down by a family member.
BRCA1 and BRCA2 Testing
Testing can be done at any time, before or after a diagnosis, though it is typically used to assess potential risk of cancer, particularly if you have a family history.
Testing is typically done during a specialized doctor’s office visit, and consists of a blood or saliva sample taken by a professional.
Testing for genetic characteristics can help determine if a person has an increased risk for developing cancer. It does not predict whether someone will develop cancer. Your BRCA status can also impact treatment eligibility, such as treatment with maintenance therapy.
Genomic Testing5

Definition

Example

Timing

Method

Significance

 
A Genomic test looks more widely at all of your DNA, rather than specific parts of your DNA.
HRD Testing
Testing is done following diagnosis of cancer.
Testing is done on the tumor itself, and includes taking a sample of your blood or the tumor, via a biopsy or surgery.
Genomic testing can help assess personalized treatment down the line, such as maintenance therapy. Because of this, HRD testing happens after you or your loved one has been diagnosed with cancer, like ovarian.

It is important to discuss you or your loved one’s potential genetic risk and specific tumor type with a healthcare professional.


What is BRCA?


BRCA is an acronym for the BReast CAncer mutation. BRCA1 and BRCA2 are human genes that produce proteins that repair damaged DNA.3 Every person has two copies of BRCA1 and BRCA2, that they inherit from each parent.3 Mutations, or harmful changes in BRCA1 and BRCA2 can carry increased risks of certain types of cancers, such as ovarian cancer.3

Nearly 80% of advanced ovarian cancer patients do not have a BRCA mutation.

What does this mean for me?

A mutation in either BRCA1 or BRCA2  gives a woman an increased lifetime risk of developing breast and ovarian cancers.6 Men with these gene mutations also have an increased risk of breast and prostate cancers.6 As soon as you learn about any family history of breast or ovarian cancer, or if you or a loved one were recently diagnosed with breast or ovarian cancer, you should talk to your healthcare provider about genetic testing. If you’ve already been diagnosed with ovarian cancer, but do not have a family history of cancer, you can still talk to your doctor about genetic testing as it could help determine your eligibility for future treatment, such as maintenance therapy.

Who should consider undergoing BRCA1 and BRCA2 testing?3

  • Those with a family history of breast or ovarian cancer
  • Those with a family history of prostate cancer

  • Those with a previous diagnosis and treatment for breast cancer

  • Those with more than 2 BRCA mutation-related cancers in an immediate family member

  • Those with cancer in both breasts in women

  • Those who have a male family member with breast cancer

  • Those who were diagnosed with breast cancer <50 years of age

  • Those of Ashkenazi Jewish ancestry

 

How do I undergo BRCA1 and BRCA2 testing?

You will undergo a genetic test, which looks for mutations in your BRCA1 and BRCA2 genes, that may have been passed down, or inherited, by a family member.3 Testing for a BRCA gene will not predict whether someone will develop cancer, but can assess one’s risk.

 

What happens if I…

Test positive for BRCA1 or BRCA2

  • A positive BRCA test (also referred to as BRCA mutation or BRCAmut) means a person has a mutation of BRCA1 or BRCA2.3 A positive BRCA test can inform eligibility for treatment options and help determine if a person has an increased risk for developing cancer.3

Test negative for BRCA1 or BRCA2

  • A negative BRCA test (also referred to as BRCA wild type or BRCAwt) means that the gene remains in its original, non-mutated state.3 It is important to note that even if you are BRCA negative, this still could play a role in eligibility for future treatments.

What is HRD?


When DNA is repaired under normal circumstances, the process is called homologous recombination.4 Homologous recombination deficiency (HRD) is when this repair system no longer works properly, and therefore is unable to repair damaged DNA in the body’s cells.4 When a cancerous tumor tests positive for HRD, this means that its cancer cells have a harder time repairing themselves.4

What does this mean for me?

HRD is an important biomarker for advanced ovarian cancer, as it may help predict the way a tumor will progress and in doing so, may help determine the most effective treatment option.4

Up to half of advanced ovarian cancers are positive for a biomarker linked to gene repair deficiencies, notably homologous recombination.

How do I undergo HRD testing?

Your healthcare provider would refer you for what is called a genomic test, which looks at all of your DNA to check for mutations.5 Genomic testing can help your healthcare team figure out how your ovarian cancer may behave and what treatments might work best against it, such as maintenance therapy.

What happens if I...

Test positive for HRD

  • If your tumor is positive for HRD, it may mean that certain treatments are more likely to be effective.4 One of the treatments is called PARP inhibitors, a type of maintenance therapy. Learn more about PARP inhibitors here

Test negative for HRD

  • Even if you test negative for HRD, there are treatments that can still work. Talk to your doctor to learn more about the treatment options you are eligible for.

 

Is Homologous Recombination Deficiency (HRD) the same asBRCA?


HRD can occur as a result of a number of different gene mutations or other harmful changes in one’s DNA.5BRCA mutation is only one potential genetic cause for HRD.8

HRD testing is done on the tumor itself, and requires a sample of the tumor, via biopsy or surgery.BRCA testing can usually be done during an office visit, and consists of a blood or saliva sample taken by a healthcare professional.3,5

 

Should I get tested for both HRD and BRCA? When?


Tumor biomarker and genetic testing may feel overwhelming, but it can be an essential part of understanding your advanced ovarian cancer diagnosis.3,4 Those with ovarian cancer should consult with their doctors first, but it is important for women with advanced ovarian cancer to understand their BRCA and HRD status (positive or negative) as both can help determine eligibility for certain treatment options, such as maintenance therapy.3,4 For those with BRCA mutations and who have been diagnosed with ovarian cancer, their tumors may be HRD positive as a result. BRCA mutations are one potential genetic cause of HRD.3,4 Hear from others in the community who discuss their experience with genetic testing.

 

Hear members of the community discuss the importane of genetic testing.