BRCA1, familial breast-ovarian cancer susceptibility 1

Diagnosis and Testing

Is there a screening tool that helps identify people who may have a strong genetic (hereditary) risk for breast and ovarian cancer due to their family history and should be referred for genetic counseling.

Cancer genetic counseling services are for both women and men who have concerns about their personal and/or family histories of cancer. Cancer genetic counseling is performed by specially trained healthcare providers who have knowledge in genetics, cancer, counseling, and hereditary cancer syndromes. These healthcare providers may be genetic counselors, doctors, genetics clinical nurses, or other healthcare professionals with formal training in genetics. The information from genetic counseling can help people at risk and their family members lower their risk for cancer and/or help detect cancer at an earlier, more treatable stage.

One online tool that can help someone find out if they should have genetic counseling is called the Breast Cancer Genetics Referral Screening Tool (B-RST™). B-RST™ was developed by a genetic counselor to help identify people who have a strong genetic (hereditary) risk for breast and/or ovarian cancer and would benefit from genetic counseling. Another online tool, called assessyourrisk™, was development by Bright Pink. Bright Pink is a national non-profit organization focused on prevention and early detection of breast and ovarian cancer in young women.

There are also several laboratory-sponsored tools available to determine if counseling and genetic testing may be appropriate. Some examples are:

References
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More Diagnosis and Testing Content

How do I get tested for Hereditary Breast and Ovarian Cancer syndrome?

Is there newborn testing for Hereditary Breast and Ovarian Cancer syndrome?

Is there more than one test for a BRCA1 gene mutation?

Who else in my family should I test for a BRCA1 gene mutation?

What does a positive test result for a BRCA1 gene mutation mean?

What does a negative test result on a BRCA1 gene mutation mean?

Should children be tested for BRCA1 gene mutations?

Should men be tested for BRCA1 gene mutations?

What is the difference between tumor testing and germline testing for a BRCA1 gene mutation?

Does it matter if you test blood vs. saliva vs biopsy for a BRCA1 gene mutation?

How do I get tested for Hereditary Breast and Ovarian Cancer syndrome?

There are several laboratories that offer diagnostic testing for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. There are multiple types of tests to choose from as well. Bright Pink, a national non-profit organization focused on prevention and early detection of breast and ovarian cancer in young women, has created a website, called exploreyourgenetics, that guides you through testing options. A genetic counselor can explain the testing options and help coordinate testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Is there newborn testing for Hereditary Breast and Ovarian Cancer syndrome?

Newborn screening is performed soon after a baby is born. It ensures that all babies are screened for certain serious conditions at birth. Hereditary Breast and Ovarian Cancer syndrome is not one of the conditions included on newborn screening. In general, genetic testing for HBOC syndrome is not recommended for people under the age of 18. Furthermore, HBOC syndrome is not included on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration and lists the conditions every baby should be screened for. States use this list to guide what conditions they include on newborn screening.

References
Is there more than one test for a BRCA1 gene mutation?

There are multiple testing options for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. If there is a known gene mutation in a family, targeted testing, also known as single site testing can be ordered. With targeted testing, the laboratory will only look for one specific genetic change instead of scanning the entire gene. This is generally the least expensive option offered by testing companies. In order to have targeted testing, you must provide a copy of your relative's positive genetic test result so the laboratory knows what genetic change to test for.

There are also testing options when a gene mutation has not been identified in the family. Many laboratories offer complete analysis of the BRCA1 and BRCA2 genes. This analysis involves sequencing and deletion/duplication analysis of the BRCA1 and BRCA2 genes. For people of Ashkenazi Jewish ancestry testing for the three BRCA mutations that are most common in the Ashkenazi Jewish population is the recommended starting point. If none of the three common mutations are found additional testing may be considered.

There are several genes beyond BRCA1 and BRCA2 that can be associated with hereditary risk for breast and/or ovarian cancers. In some situations, testing for multiple genes may be more efficient and/or cost-effective. This type of testing is often referred to as multi-gene testing or panel testing. Cancer panels often include BRCA1, BRCA2, and other genes that are associated with hereditary cancer.

There are benefits, risks, and limitations to any type of genetic testing. It is important to have genetic counseling from a qualified healthcare provider to aid in this decision-making process. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Who else in my family should I test for a BRCA1 gene mutation?

If you have a positive result after genetic testing, other family members are at risk to have the same genetic change. First-degree relatives (siblings, children, and parents) have a 50% chance to have the same genetic change. Second-degree relatives (nieces/nephews, aunts/uncles, grandparents, grandchildren, and half siblings) have a 25% chance to have the same gene mutation. It is recommended that relatives be informed of their risk. Whether testing is right for them is a personal decision. Also, BRCA1/2 testing is not generally recommended for people under 18 years of age.

What does a positive test result for a BRCA1 gene mutation mean?

A positive test result means that a genetic change was found in the BRCA1 gene that leads to increased risk for cancer. The cancers most commonly associated with BRCA1 gene changes are breast cancer in women and men, ovarian cancer, pancreatic cancer, prostate cancer, and melanoma. A positive test result may change recommendations for cancer risk management. It is also recommended that individuals inform their relatives if they receive a positive result so that they can consider genetic testing themselves. If an individual tests positive for a gene change their first-degree relatives (parents, siblings, and children) have a 50% chance to have the gene change and second-degree relatives (half-siblings, aunts, uncles, nieces, nephews, and grandparents) have a 25% chance to have the gene change.

What does a negative test result on a BRCA1 gene mutation mean?

A negative genetic test result means no genetic changes were identified in the BRCA1 gene. A negative genetic test result will mean different things to different people.

  • If a family has a known BRCA1 gene mutation and a person receives a negative test result, this suggests that they are not at increased risk for cancer over the general population.
  • If a family does not have a known gene mutation, a negative result is less conclusive. This does not mean that a person is at general population risk for cancer. Medical management decisions should be based that individual's personal and family histories of cancer. Additional genetic testing may be appropriate.
Should children be tested for BRCA1 gene mutations?

Most of the time genetic testing for HBOC syndrome is not recommended for people under the age of 18. For HBOC syndrome, screening does not begin until around 25 years of age so testing a minor will typically not affect their medical management. Numerous professional organizations, such as the American Academy of Pediatrics and the American College of Medical Genetics, support waiting until a person is at least 18 years of age to test for adult-onset conditions, such as HBOC syndrome. This allows individuals to choose for themselves as adults whether or not they want to have genetic testing.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1247/
  • Ross LF, Saal HM, David KL & Anderson RR and the American Academy of Pediatrics: American College of Medical Genetics and Genomics. Technical report: ethical and policy issues in genetic testing and screening of children. Genet in Med. 2013; 15:234-245.
Should men be tested for BRCA1 gene mutations?

Men should be tested for BRCA1 gene mutationsl. Men are just as likely to have a BRCA1 gene mutation as women. There are increased cancer risks for men as well. These include prostate, pancreatic, and male breast cancers. If a man has a BRCA1 gene mutation, he has a 50% chance to pass it down to each of his sons and daughters.

What is the difference between tumor testing and germline testing for a BRCA1 gene mutation?

There are key differences between analyzing the DNA from a tumor and analyzing DNA from your blood. It is not uncommon now to have DNA analysis (DNA sequencing) performed on a tumor sample. Outcomes can sometimes affect treatment options. Most of the genetic changes found in a tumor sample are new (somatic) changes. Somatic mutations are not present at birth, but rather they arise randomly later in life. Many somatic changes are made during the growth of a tumor. A BRCA1 gene mutation found in a tumor does not confirm that a person has Hereditary Breast and Ovarian Cancer (HBOC) syndrome.

Hereditary Breast and Ovarian Cancer syndrome is caused by germline mutations. These are genetic changes that we have in our DNA from birth, and we expect to find them in every cell in our body. DNA sequencing on blood or saliva samples can detect these germline mutations.

Does it matter if you test blood vs. saliva vs biopsy for a BRCA1 gene mutation?

All genetic testing laboratories should accept blood samples and many also accept saliva samples. Saliva sample tests are just as reliable as blood sample tests. All the cells in a person's body have the same DNA, so it does not matter if you test blood cells or cells found in saliva.

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