by Jeanne Olson, RN

​Genetic testing has expanded greatly in the past few years. BRCA1 & BRCA2 were the only genes tested for breast cancer in the past. Genetic testing panels are now standard. Only one out of ten (10%) women diagnosed with breast cancer have a genetic predisposition measurable by genetic testing.

Genes related to breast cancer development now include ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53, NBN, NF1, in addition to BRCA1 & BRCA2. All of these genes have a different penetrance level, there are varying percentages of risk.

Cancer genetic panel testing also include the genes for cancers affecting colon/gastric, pancreatic, prostate, melanoma, ovarian/uterine and others. Most genes affect more than one body system.

The American Society of Breast Surgeons (ASBS) published a consensus statement this spring, stating all women with a diagnosis of breast cancer, regardless of age should be genetically tested. For those women who were tested previously only for BRCA1 & 2, they should be offered updated panel testing. It is felt that of the 10% noted above, only half of those were being identified due to the restrictive insurance company policies.
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Genetic testing is offered locally at the cancer treatment centers, as well as the breast centers, and some primary care offices. Samples of either blood or saliva can be submitted for DNA sampling.

If you were tested for BRCA1 & BRCA2 only in the past, check with your physician about having expanded panel testing.
Genetic testing results fall into three categories: A positive/pathogenic variant, a negative result and then variants of uncertain significance (VUS).
• For those with a positive/pathogenic variant, genetic counseling is recommended. Genetic counseling can be obtained by an in-person visit – typically in Cedar Rapids, Iowa City or Mayo Clinic.
The Genetic testing companies may also offer genetic counseling via phone with a certified genetic counselor.

• A negative result is reassuring, but it doesn’t mean the patient is “off the hook” for developing any of the cancers affiliated with the genes tested, but it does mean the patient does not have a genetic predisposition to that cancer development.

• VUS – variant of uncertain significance is essentially a negative report. These variants are not actionable. VUS are followed by the genetic testing companies and over time, some of these will be upgraded to a positive/pathogenic variant, others may be downgraded to negative. When there are changes to a VUS, the ordering physician is notified. That provider’s office will notify the patient of the change. Inheriting a positive/pathogetic variant, for many of the common cancer genes, is a 50/50 chance.

If a patient is negative, her children are negative. If a patient is positive, her children would have a 50% chance of also having the same gene mutation. Costs have decreased dramatically as well. $4,000 was a commonly billed amount in the past.

Some companies will provide testing for $250 or possibly less. There is significant market share competition with the various testing companies, each have their own offers. Health insurance providers are prohibited by law from discriminating against patients with a pathologic genetic variant. This same protection is not available for life, disability and long-term care insurance.

When a patient is seeking genetic testing and has not had a cancer diagnosis, it is recommended they have these insurance policies in place before testing. Not disclosing genetic testing results on applications is fraud, a criminal offense. There are reports of Medicare fraud, where patients are contacted unsolicited, usually by phone, telling them because they have had breast cancer, they can be tested from home.

These fraudulent callers already have the patient’s Medicare number and other demographic information. If the patient agrees, a kit is sent to them, once returned, some do get a report. But there are instances of Medicare paying for the testing, but the patient never receiving a report.

​The Office of Inspector General (OIG) has open cases regarding this fraudulent activity, including locally. The recommendation is to always have your testing with a medical provider. Do not accept phone calls offering testing. The genetic/ancestry testing that is commercially available is also not recommended as those labs are not accredited with Clinical Laboratory Improvement Amendments (CLIA).
To read the complete consensus statement of the American Society of Breast Surgeons (ASBS) issued this spring can be found at https://www.breastsurgeons.org /docs/statements/ConsensusGuideline-on-Genetic-Testingfor-Hereditary-BreastCancer.pdf
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Kim Maxfield, RN
Clinical Research Coordinator Covenant Clinic

Both men and women are capable of having a mutation in the BRCA1 or BRCA2 genes. BRCA 1 and BRCA 2 are human genes that produce tumor suppressor proteins. When either of these genes is mutated or altered, the cells are more likely to develop additional genetic alterations that can lead to cancer. Both men and women have an increased risk of breast cancer if they have this mutation and each have an increased risk of additional types of cancer.

BRCA 1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. They also account for about 15 percent of ovarian cancers. These mutations can be inherited from a person’s mother or father. Each child of a parent that carries the gene mutation has a 50 percent chance of inheriting the same mutation. Women also have a higher risk of developing fallopian tube cancer and peritoneal cancer if they have the mutation.

Men who have the mutation are at an increased risk of breast cancer and also have a higher risk of prostate cancer. Both men and women have a higher risk of pancreatic cancer. These mutations are relatively rare in the general population so testing should only be done when a person’s family history suggests the possibility of a genetic mutation.

Some things that are assessed include:

• Breast cancer diagnosed before age 50
• Cancer in both breasts
• Both breast and ovarian cancers
• Multiple breast cancers
• Two or more primary types of BRCA1 or BRCA2 related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

It is generally recommended that a person talks to a health care professional that is experienced in cancer genetics to discuss risks, medical implications of test results, psychological risks and benefits, the risk of passing a mutation to children and an explanation of the specific tests that may be used. Testing is done by collecting blood or saliva for a DNA sample.
This sample is sent to a laboratory and takes about a month to receive results

For people with positive test results, there are many options available for managing their cancer risk.

• Enhanced screening which includes clinical breast examinations beginning at age 25 along with yearly mammograms and possibly breast MRI.
• Transvaginal ultrasounds and blood tests to help detect ovarian cancer. Men may also benefit from regular mammography and testing for prostate cancer.
• Prophylactic risk-reducing surgery. This may involve having both breasts removed in women and also surgery to have the ovaries and fallopian tubes removed.
• Chemoprevention is the use of drugs, vitamins or other agents to reduce the risk of or delay the recurrence of cancer. There are two drugs that have been approved by the FDA to reduce the risk of breast cancer in women at increased risk of cancer but the effect on women with the mutated gene is not yet clear.

Studies are currently being conducted to fine new and better ways to detect, treat and prevent cancer in people who carry the gene mutation. Knowledge in these areas are growing rapidly are constantly evolving.
For any questions or concerns about your risk please discuss with a healthcare professional.


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