There’s another breast cancer gene that every woman should know about - Cape Cod Healthcare

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Published on October 19, 2021

There’s another breast cancer gene that every woman should know about


Thanks to Angelina Jolie’s public awareness campaign and bilateral risk-reducing mastectomies in 2013, most people know about the dangers of the hereditary BRCA1 and 2 genetic mutations. But BRCA isn’t the only genetic mutation that increases the chances of breast, ovarian and pancreatic cancer. PALB2 is a lesser-known gene mutation that poses nearly the same risks.

Both types of mutations can be detected by genetic testing done with a simple blood or saliva test. But if you had genetic testing done before 2014, you might not be aware of your risk for PALB2 because the mutation wasn’t identified until that year and wasn’t included in earlier testing panels. 

“Women who were tested in the ‘90s or 2000s would have been tested for the BRCA1 and 2 only,” said Nurse Practitioner Nancy O'Connor, NP, MSN, who specializes in genetics and conducts testing in the high-risk hereditary cancer clinic at the Cuda Women’s Health Center in Hyannis.

“For any woman or man tested before 2014, it is recommended that they be retested and do an updated panel, because not only have new genes been identified, but the testing technique has changed as well,” she said.

The Post-Testing Process

Once a patient has had the genetic testing, they would go back to the Cuda Center to talk to O’Connor. For patients who test positive for PALB2, O’Connor explains the risks and what the diagnosis means. She also asks about other family members who might also be at risk for a change in PALB2 gene.

“If one person has the gene mutation, we know it’s in their family DNA so then we talk about cascade testing - people who would also be appropriate for testing like siblings, children, aunts, uncles, cousins,” she said.

After the discussion about the genetic test results, O’Connor then makes referrals for further treatment as needed. The first thing she does is order a breast MRI for women with the PALB2 gene mutation because they have a five- to nine-times elevated risk of breast cancer. If the patient hasn’t already had a mammogram, O’Connor orders mammography. Then she refers the patient to a doctor who specializes in breast cancer treatment, who will interpret the MRI and mammogram.

The breast cancer specialist talks to the patient about all of the options available. With a positive PALB2 diagnosis, the patient will alternate a mammogram with a breast MRI every six months. Some patients might do well with endocrine therapy with an estrogen modulator such as Tamoxifen. They also talk about the option of risk-reduction surgery, which includes a double mastectomy.

Patients who are younger tend to want to be more aggressive with treatment because they have a longer lifespan of extensive testing, O’Connor said. Another part of the decision of whether to do a risk-reduction surgery is whether the woman has watched a close family member, or their own mother struggle with breast cancer. A lot of women who have had that experience don’t want to put their own loved ones or children through it.

O’Connor also refers female patients to a gynecologist or GYN oncologist, so a doctor is watching her ovaries closely with a yearly transvaginal ultrasound and C-125 blood test. If the woman is near menopause, she could consider having her ovaries and fallopian tubes removed.

And finally, since PALB2 also carries an elevated risk of pancreatic cancer, O’Connor recommends that the patient begin pancreatic cancer screening at age 50 at a high-risk pancreatic cancer clinic, if there is a history of pancreatic cancer in the family.

“At the high-risk pancreatic cancer clinics, they see these patients every six months and do a very sophisticated ultrasound of the pancreas and then six months later, they do a very sophisticated MRI of the pancreas. One of the issues with pancreatic cancer is people don’t have symptoms until it is very advanced,” O’Connor said.

Since PALB2 is not gender-specific, there is an elevated but rare risk for male breast cancer, so men who test positive would need to have a breast exam at their annual physical. They would also be a higher risk for pancreatic cancer. Another concern is that men can pass the genetic mutation down to their children, she said.

The News Isn’t all Negative

The PALB2 genetic mutation is not a death sentence and the level of treatment necessary is up to the patient, O’Connor said. Her doctor will discuss all of the options. While some women choose risk-reduction surgery, others just prefer to have enhanced surveillance.

“What we’ve learned is you can have that gene mutation but it doesn’t mean that patient will develop cancer,” she said. “We know there are elevated risks, but there are modifier genes that can help reduce the risk. Epigenetics, external or environmental factors, such as what we do for ourselves: staying healthy, maintaining an ideal weight, not smoking, healthy diet, being active, staying connected with other people, keeping your brain sharp have a positive benefit. All of that has a healthy effect on breast tissue as well.”

The most exciting news about genetic testing is that patients can be proactive and make decisions that work for them, O’Connor said. Each person’s decision is personal but having the information to make future healthcare choices is only possible because people now have the information to choose, she said.

Every patient who comes into one of Cape Cod Healthcare’s imaging centers for breast imaging gets screened for hereditary cancers. Additionally, a few years ago, the American Society of Breast Surgeons recommended that all women with breast cancer be offered genetic testing. It can help determine the course of their treatment because certain gene mutations respond better to certain medications.

All women should begin having mammograms at age 40, but it sometimes begins younger if there is a strong family history, O’Connor said. In that case, it would be appropriate to begin testing 10 years younger than the family member was diagnosed. So, if a young woman’s mother had breast cancer at age 40, she should begin screening at age 30.

“We’re fortunate that Cape Cod Healthcare invested in a high risk hereditary cancer screening clinic like this because most facilities don’t have one,” she said. “A lot of women who come from other sites or from out of state say nobody has ever talked to them about their risk before.”