When a genetic mutation makes headlines, the first thing patients ask is, “Should I be tested for it?”
PALB2 is no exception. Recently, researchers made news by connecting mutations in this gene to an increased risk for breast cancer.
It’s important research. It expands the list of genes that we know affect breast cancer. But for most women, the news is not a cause for alarm — or a reason to rush to your doctor.
“It’s important research. But for most women, the news is not a cause for alarm — or a reason to rush to your doctor.”
Charis Eng, MD, PhD
Founding Chairwoman of the Genomic Medicine Institute
By now, most people are familiar with BRCA1 and BRCA2, two strong genes that play a major role in breast cancer risk. PALB2 actually gets its name — partner and localizer of BRCA2 — from how it interacts with BRCA2 to fix broken DNA.
But PALB2 mutations don’t play as big a role in cancer risk as BRCA mutations overall. It’s a weaker gene that has to work with other genes. That’s partly why we’ve known so little about it until now.
In the new research, researchers studied 362 people from 154 families that have PALB2 mutations. Among this group, the lifetime risk of developing breast cancer was 33 percent for women with no family history of breast cancer. For those with a family history of breast cancer, the risk rose to 58 percent.
The results matter most for people with PALB2 mutations.
If you know you have this mutation from past testing, your doctor may recommend high-risk monitoring for breast cancer, for example — especially if you have a family history of cancer. Keep in mind, those were the two big risk factors in the study: family history and a known PALB2 mutation. This wasn’t a sample of the general population.
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So what about other women? In most cases, you should not rush in to ask for testing.
The PALB2 mutation still appears to be rare, although we don’t have a full understanding of how common it is. But it’s one small part of a much bigger picture of risk.
Unless you have other red flags — family history and early-age onset of cancer are the biggest — testing may cause you unneeded anxiety and expense. Also, as of now, testing for PALB2 is part of a much larger multigene test. There is no individual test just for this mutation.
If you have a family history of cancer, if you had cancer at an early age, or if you have concerns and want to know more, ask about genetic counseling. A genetic counselor can look at all of your risk factors and help you make smart decisions. This trained professional can determine if you need tests for PALB2 or any other mutations.
Research like this advances our understanding of the genetics of breast cancer. But that understanding comes with a word of caution: Not everyone needs a test for every newly discovered genetic mutation.