What Is PALB2? The Overlooked Cousin of BRCA Genes

You’ve probably heard of the BRCA1 and BRCA2 gene mutations, the headline-makers when it comes to breast cancer risks. But have you met their under-the-radar cousin, PALB2? This gene mutation may not be as famous, but it’s just as important to know about. Let’s break down what PALB2 is and why it matters for you and your family!

The Discovery of PALB2

PALB2 (short for “Partner and Localizer of BRCA2”) was discovered in 2006. This gene works closely with BRCA2 to help repair damaged DNA. But when PALB2 is mutated, it can’t do its job properly, leaving the door open for cells to become cancerous. Think of it as your DNA’s repair crew being on permanent lunch break—things can get messy!

How Many People Have PALB2?

While PALB2 isn’t as widely recognized as BRCA mutations, about 1 in 1,000 people carry this mutation. That’s a lot of people potentially walking around with an increased cancer risk and not even knowing it!

What Are the Cancer Risks?

If you have a PALB2 mutation, your risk levels can vary based on your family history:

• Breast Cancer: The Mayo Clinic reports that women with a PALB2 mutation have a 40-60% chance of developing breast cancer by age 70. Your risk leans more toward the higher end (like 60%) if you have multiple relatives who’ve had breast cancer, especially if one was male.

• Ovarian Cancer: PALB2 also raises your risk of ovarian cancer, though it’s lower than breast cancer—around 5% by age 70.

• Pancreatic Cancer: Your lifetime risk of pancreatic cancer increases to about 2-3%, which is still higher than the general population but not as significant as the breast cancer risk.

The 50/50 Inheritance Rule

Here’s the tricky part: PALB2 doesn’t skip generations. If one of your parents has it, you’ve got a 50% chance of inheriting it. So, if cancer runs in your family, especially breast cancer, it’s worth getting tested to see if PALB2 might be lurking in your genes.

PALB2: It’s No Pal to Me (or You)

When people think of breast cancer genes, they often assume it’s only a concern for women. But men, you’re not off the hook! Men with a PALB2 mutation also have an increased risk of breast cancer (yes, men can get breast cancer too!), as well as pancreatic cancer. It’s less common for men to develop breast cancer, but the mutation still raises their risk higher than the average male population.

For women, the PALB2 mutation significantly increases breast and ovarian cancer risks, meaning earlier and more frequent screenings are often recommended. Men, on the other hand, might focus on monitoring for breast lumps and pancreatic issues. So really, PALB2 is no pal to anyone!

PALB2 vs. BRCA Genes: How Do They Compare?

PALB2 is like the quieter sibling of the BRCA1 and BRCA2 genes. While BRCA mutations can push breast cancer risks up to 72%, PALB2 isn’t too far behind with its 40-60% risk. Both BRCA and PALB2 mutations are part of a group of genes responsible for fixing DNA damage. When any of these genes are mutated, cancer risks shoot up.

What Does This Mean If You Have a PALB2 Mutation?

Testing positive for PALB2 can feel overwhelming, but it’s not the end of the world. Knowing your genetic risk empowers you to take proactive steps like scheduling regular mammograms, MRIs, or even considering preventative surgeries. It also opens the door to having important conversations with your family—because if you have the mutation, there’s a chance your kids might too.

Remember, knowledge is power. If cancer runs in your family or you’re curious about your genetic risks, talking to your doctor about genetic testing could be the first step in taking control of your health.

So, there you have it—the 411 on PALB2! It may not be as famous as BRCA, but it’s definitely worth paying attention to. Stay informed, stay proactive, and remember: your genes are just one piece of your health puzzle.

What Is PALB2? The Overlooked Cousin of BRCA Genes

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