I have hard to image breasts and a grandmother who had breast cancer, and my radiologist who does my yearly mammograms recommended I do Color testing. What is it? Color testing is a test to look at genetic predispositions to cancers- not just breast cancer and the BRCA genes- but it includes other genes known to be associated with higher risks of cancer, from colon to pancreas to melanoma. They recently sent me a note about a study looking at PALB2 to see the association with breast cancer. “PALB is considered the third most important hereditary breast cancer risk gene after BRCA1 and BRCA2. People with this mutation are at a substantially higher risk for developing breast cancer, and slightly higher risk for developing both pancreatic and ovarian cancer.” They then talk about how this gene was recently featured in the NYT. “This Breast Cancer Gene is Less Well Known, But Nearly as Dangerous.”
I didn’t remember if they tested me for that gene, so I looked up what Color testing did test me for. When I did it they analyzed the following genes:
Genes analyzed:
APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
They are quick to point out that 85-90% of all cancers are not genetic. There are other factors and lifestyle which contribute. We know if you are in the sun a lot and have a lot of moles, you are at increased risk for skin cancer. We know if you have a baby later, don’t breastfeed, or have denser breasts you are at a higher risk for breast cancer. Smoking increases risks for almost every cancer.
So why test? If you do test positive for one of these markers, you are likely at increased risk. It helps explain why some families and people have a higher rate of cancer. For basic screening recommendations, they have a good list HERE for breast, melanoma, colon, and other cancers. If you have the APC gene, your risk of colon cancer by age 80 goes up 80%. I still remember the p53 gene from medical school. P53 helps repair damaged DNA, calling it a “tumor suppressor gene”. If it isn’t working, it allows cancers to form and grow.
So if you have a strong family history of cancers, this test is not a bad idea. As with all of this genetic testing, it is not definitive. If you are negative for their gene screening, it doesn’t mean you can’t get cancer. If it is positive, then it is a good push to make sure you are more vigilant. Don’t skip that yearly mammogram. Get your screening colonoscopy on time or earlier (as colon cancer rates seem to be rising at earlier ages). Stop smoking.