The lesser known gene that increases risk for breast cancer

Medical Watch

Along with BRCA genes, doctors and patients want to raise awareness for PALB2 mutation

Are you at risk for breast cancer?

Genetic research may be exploding, but there’s an information gap when it comes to spreading the new information. After learning she carried a lesser-known but equally life-altering genetic mutation, one patient made sure she got the word out.

Susan Berger was diagnosed with breast cancer in 1997 after a routine mammogram.

“I had a lumpectomy, six months of chemo, six weeks of radiation,” she said. “And I’m, knock on wood, cancer free since then.”

A few years later, the mother of three daughters underwent genetic testing to see if she carried the mutations, known as BRCA-1 and 2, that increase a person’s risk for the disease.

“I have three daughters, I was really happy to know BRCA mutation, I didn’t have that,” she said.

But 24 years later, the 69-year-old who is now a health reporter, received surprising news —and not from her doctors.

“In April, I got a phone call from my oldest daughter who had gone through genetic testing (and) found out she had something called PALB2,” Berger said. “(I) had no idea what that was.”

Palb2 is a gene that normally helps repair DNA damage in the body and fight off cancer. When there is a mutation, the approach to prevention can change.

Dr Peter Hulick is a clinical geneticist at NorthShore University HealthSystem.

“It doesn’t guarantee someone will develop a cancer, but allows us to know we should be doing something different from a screening and prevention standpoint,” he said.

Unlike the commonly talked about BRCA 1 and 2, a PALB mutation is not as widely known, even though testing for it became available more than seven years ago and it is associated with three different diseases.

“It’s hard to keep up with any busy clinician and patient,” Hulick said. “It’s a fast-moving field.”

Here’s how PALB2 measures up: The average woman carries about a 12% lifetime risk for developing breast cancer. That risk jumps to 40% to 60% when PALB2 malfunctions. In comparison, BRCA 1 and BRCA 2 increase a person’s risk to 60% to 80%.

When it comes to ovarian cancer, the average lifetime risk is 1% to 2%. It’s 4% to 5% for those who carry the lesser-known mutation. And for pancreatic cancer – instead of the typical 1.5% risk for the disease, with palb2 there’s a 5% to 10% risk over the course of a lifetime.

“Being a 24-year breast cancer survivor and being a health reporter, I read everything,” Berger said. “I figured, if I don’t know, no one knows.”

Berger was right. After learning she, too, carries the PALB2 mutation, she wrote about the lesser-known genetic risk for the New York Times. Her article generated widespread response from patients and doctors.

“I had messages from doctors from Harvard and Johns Hopkins thanking me,” she said.

Instead of more intense screening, Berger has opted for prophylactic procedures. She had her ovaries and fallopian tubes removed and is considering a double mastectomy to protect herself from a cancer recurrence. And now her daughters are considering similar procedures.

“We were all pretty upset, but when we really sat down to think about it we realized that it’s a heads up. We know what to look for,” Berger said. “We feel lucky that we had the heads up, my girls and I.”

“We still have a ways to go but we have to tackle this awareness issue,” Hulick said.

For more information about journalist and breast cancer survivor Susan Berger, check out  www.bergerreport.com Follow her on Twitter @Msjournalist and Instagram @Msjournalist951 

So, who should undergo testing for the PALB mutation? If you have a family history of ovarian or pancreatic cancer or had a diagnosis of breast cancer before age 45, talk with a genetic specialist. And there is an online support group for those with PALB2 on Facebook as well.

Copyright 2021 Nexstar Media Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.

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