This edition of “Learning from InvENtors” is centered around a recent innovation in testing for breast cancer by Laura van ‘t Veer.
You may not have heard of her, but van ‘t Veer and her team at the Netherlands Cancer Institute (NKI) created a gene-based breast cancer test that empowers women who have been diagnosed with breast cancer to make informed decisions about whether or not to undergo chemotherapy after initial surgery.
Facts about breast cancer in the United States:
- One in eight women will be diagnosed with breast cancer in their lifetime.
- Breast cancer is the most commonly diagnosed cancer in women.
- Breast cancer is the second leading cause of death among women.
- Each year it is estimated that over 220,000 women in the United States will be diagnosed with breast cancer and more than 40,000 will die.
- Although breast cancer in men is rare, an estimated 2,150 men will be diagnosed with breast cancer and approximately 410 will die each year.
- The World Health Organization (WHO) estimated that around 450,000 women died because of breast cancer in 2011.
Over the past decade, survival rates have greatly improved – currently at 80% or higher in North America, Sweden and Japan – but treatment of the disease can take a heavy toll on patients, especially the side-effects of chemotherapy.
How does the test work?
The test, introduced in 2007, evaluates tumor tissue for the 10-year risk of cancer recurrence. The novel test has proven a major shift for care providers by identifying high-risk patients who actually require chemotherapy, and low-risk patients who can be spared by the potentially damaging side-effects of toxic chemical treatments.
Van ‘t Veer and her team discovered this breakthrough by studying the genetic properties of tumor samples from breast cancer cases. This led to the identification of a specific genetic “signature” consisting of 70 genes that determine whether an individual’s genetic profile is high or low risk for the growth of secondary cancers.
Marketed by van ‘t Veer’s start-up company Agendia NV as the MammaPrint, the team’s test has been used by more than 40,000 early-stage breast cancer patients in 34 countries. When patients take the test, providers use a small sample of breast tissue that is sent to Agendia for analysis, and many health insurance providers cover the costs.
The MammaPrint test is conducted on tumor tissue samples about 3 x 3 millimeters in size by using microarray chip technology. A microarray is a small rectangular plate coated with minuscule drops of DNA arranged in a matrix pattern.
Each single drop of DNA corresponds to the code of one precise gene. The MammaPrint test measures the activity of 70 cancer-specific genes for a total of six times for reliable outcomes. The test monitors activity in the cancer-specific genes by checking levels of mRNA molecules – also known as “messenger RNA”. Based on the levels of the 70 cancer-specific genes, the test determines a patient’s risk of metastasis (spread of a cancer from the initial site to another location in the body).
Benefits of the invention:
Thanks to van ‘t Veer and her team, patients diagnosed with a low risk of tumour recurrence can forego chemotherapy entirely and still remain disease-free. This is extremely beneficial because chemotherapy is not only costly, but can also put strain on patients, suppressing their immune system, even causing liver damage or organ failure.
A little history:
The MammaPrint test provides final scientific proof of the “seed and soil” hypothesis already made by English surgeon Stephen Paget in 1889. Paget assumed that metastasis is not random, but based on individual patient predisposition: “When a plant goes to seed, its seeds are carried in all directions; but they can only live and grow if they fall on congenial soil.”
Almost 120 years and numerous major genetic breakthroughs later, Laura van ‘t Veer and team identified the “congenial soil” for breast cancer as a specific set of genetic markers covered by their microarray test.
About Laura van ‘t Veer:
As a young researcher at the Netherlands Cancer Institute (NKI), Laura van ‘t Veer studied the genetic traits of breast cancer tumors, working with René Bernards. After their breakthrough discovery, the two research partners founded Agendia in 2003 with the goal of safeguarding and growing the library of genetic markers necessary for the MammaPrint test.
During a career in molecular oncology spanning over 25 years, Laura van ‘t Veer has published more than 230 papers in peer-reviewed scientific journals and currently heads the Netherlands Cancer Institute DNA-diagnostic laboratory. She is a professor at the Department of Laboratory Medicine at the University of California in San Francisco, where she lives.
For her achievements in breast cancer research, van ‘t Veer has received several awards including the Van der Scheuren Lecture Award, the ESMO Lifetime Achievement Award, the Breast Cancer Research Fund Grant, and the EU 2014 Women Innovator Award second prize.
So, what can be learned from Laura van ‘t Veer? While we are all not molecular biologists, Ms. van ‘t Veer’s work reinforces one of the common themes found across the Edison Nation community…
Never give up, and never stop trying to find that solution.
If van ‘t Veer and her team did not throw themselves into extensive genetic research that had been started over 120 years ago, the MammaPrint test wouldn’t be helping countless patients around the world today.