Regional Cancer Center ~ Erie, PA

Genetic Testing for Breast Cancer

Genetic Testing for Breast Cancer

Could you be at risk for hereditary breast cancer?

Do you have a personal or family history of breast cancer? You can inherit a broken gene, also known as a gene mutation, from either your mother or your father. Gene mutations in either your BRCA1 or BRCA2 genes make it much more likely that you may develop certain types of cancer.

The good news is that you can do something about it. There is a genetic test that you can talk to your doctor about that will let you know if you have a broken BRCA1 or BRCA2 gene. This is also known as Hereditary Breast Cancer Syndrome.

Frequently Asked Questions

What if I have a BRCA1 or BRCA2 mutation? What can I do about it?

If you do have one of these broken genes, there are steps that you and your doctor can take to help reduce your risk of getting cancer. These include enhanced screening, prophylactic (risk-reducing) surgery, and chemoprevention.

What is the testing procedure?

The genetic test is done using a blood or saliva sample. Your sample is sent overnight in a special kit to Ambry Genetics (this is all coordinated by RCC). Once your sample arrives at Ambry, your BRCA1 and BRCA2 genes are analyzed. Everyone has these genes – they each have a specific role in your body. The genetic test looks for any mutations that cause an increased risk of cancer.

Will insurance pay for this test?

Most commercial and federal insurance plans will pay for at least part of the test, if not all of the test. Ambry Genetics will contact your prior to testing if you have to pay $150 or more out of pocket.

BRCA Mutations and Risks

A BRCA mutation is a mutation in either of the genes BRCA1 and BRCA2. Harmful mutations in these genes produce a hereditary breast-ovarian cancer syndrome in affected families. Mutations in BRCA1 and BRCA2 are uncommon, and breast cancer is relatively common, so these mutations consequently account for only five to ten percent of all breast cancer cases in women.

The cancer risk associated with any given mutation varies significantly and depends on the exact type and location of the mutation and possibly other individual factors. Women with harmful mutations in either BRCA1 or BRCA2 have risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal.

Mutations can be inherited from either parent and may be passed on to both sons and daughters. Each child regardless of sex, has a 50% chance of inheriting the mutated gene from the parent who carries the mutation. As a result, half of the people with BRCA gene mutations are male. The risk of BRCA-related breast cancers for men with the mutation is higher than for other men, but still low. However, BRCA mutations can increase the risk of other cancers, such as colon cancer, pancreatic cancer, and prostate cancer.

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