New genetic test identifies melanoma risk in pre-menopausal women

Melanoma is the most common form of cancer in America and, in some cases, it can be deadly. Researchers at the NYU Langone Medical Center have discovered that a genetic variation almost quadruples the risk of melanoma in women under age 50.

According to Dr. David Polsky, the lead author of the study published in the journal Clinical Cancer Research, more research is needed but the gene variation called MDM2 might be a better predictor of melanoma than other well-known risk factors such as family history, freckles and previous sunburns.

The gene variation could eventually lead to a screening test for women. Those at greater risk could increase prevention methods such as examining their skin more frequently and avoiding the sun and suntan beds.

A genetic test that will improve breast cancer treatment

One in eight American women will develop breast cancer, according to the National Cancer Institute. If diagnosed early, there’s a 90 percent success rate of treatment.

Now, there’s a new test that analyzes a set of 50 genes that can identify four types of breast cancer, according to a study published in the Journal of Clinical Oncology. The test can be used on all women diagnosed with cancer and is more effective than the current genetic test widely used, OncotypeDX, which does not identify all four types of cancer.

“Our test is the first to incorporate a molecular profile for the basal-like type breast cancers,” said Dr. Matthew Ellis, a breast cancer specialist with the Siteman Cancer Center at Washington University. “That’s important because these breast cancers are arguably the most aggressive, yet the most sensitive to chemotherapy. By identifying them, we can ensure they are treated adequately.”

The 50-gene test also identifies what some previously considered a fifth type of breast cancer referred to as normal-like. This is an indicator that a breast tumor sample contains insufficient tumor cells to make a molecular diagnosis and that a new sample needs to be taken.

When it comes to treatment, the test will have a profound impact. It can predict how well patients will respond to chemotherapy. For instance, luminal A breast cancer was not sensitive to chemotherapy, so women with this form of cancer may have better results from a hormone-based therapy. Basal-like cancer was the most sensitive to chemotherapy, while luminal B was the least sensitive. Researchers hope this discovery will lead to better treatments for luminal B cancer.

How to Use At-home Genetic Tests Safely

If you’ve ever been curious about what your genetic test might reveal, you’ve probably considered buying a home kit online. However, the Center for Genetics and Society (CGS) states that these home tests, also referred to as direct-to-consumer tests, can be risky. Here’s what you need to be aware of:

  • Consumers can misinterpret results. Testing positive for a gene does not mean you have the disease or are likely to get it, states the CGS.
  • According to the American Society of Human Genetics, currently there is not enough federal regulation of at-home genetic tests. This puts their effectiveness and reliability into question.
  • These tests are not suitable substitutes for evaluation by your doctor, advises the U.S. Centers for Disease Control. Ask your doctor if testing is worthwhile for your medical care and to recommend a test.
  • Check the laboratory’s credentials. Labs conducting health-related tests are subject to federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA) and other state requirements.
  • Speak to your doctor or a counselor about the results before seeking any kind of treatment.
  • Protect your privacy. The CGS states that some companies may post test results online. If their site is not secure, others might be able to view your results.
  • Some employers and insurance companies are using genetic test results to discriminate against consumers.