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Journalist shines light on PALB2 gene mutation and breast cancer risk

Some experts call PALB2 the third most important breast cancer gene.
/ Source: TODAY

Many women breathe a sigh of relief when they test negative for BRCA gene mutations, which raise the risk for breast, ovarian and other cancers. But that's not the end of the hereditary risk story.

Freelance journalist Susan Berger is a prime example. She was diagnosed with breast cancer in 1997 and learned she didn't have the BRCA gene mutations in 2009 when she underwent genetic testing.

She endured a lumpectomy, chemotherapy, radiation and years of the hormone therapy drug Tamoxifen to kill the cancer and keep it at bay — or so Berger thought.

Two of Susan Berger's three daughters have tested positive for the PALB2 gene mutation.
Two of Susan Berger's three daughters have tested positive for the PALB2 gene mutation.Courtesy Susan Berger

In March, she received a frantic call from her 42-year-old daughter, Laura, who told her, “Mom, I have this genetic mutation. I don't even understand what it is. What am I supposed to do next?”

The genetic mutation was PALB2, which some experts call the third most important breast cancer gene. It increases the risk for breast cancer by 58% for those with a family history and 33% for those with no family history. It also increases a person’s risk for ovarian and pancreatic cancers.

Doctors started testing for the PALB2 gene mutation in 2014, five years after Berger underwent genetic screening.

Berger's three daughters are all grown up now, and all underwent genetic testing to evaluate their risk of developing cancer.
Berger's three daughters are all grown up now, and all underwent genetic testing to evaluate their risk of developing cancer.Courtesy Susan Berger

Berger’s daughter, whose mutation was discovered as part of a fertility workup, now feared she was looking at the end of her life, instead of bringing a new one into the world.

Berger herself had never heard of the PALB2 mutation, even after doing health reporting for about 15 years.

“I'm sort of an information sponge, and I thought, ‘If I don't know, people just don't know,’” she said. “I looked at my husband, and I said, ‘I have to write about this.’ I mean, people need to know.”

Berger, 69, got tested, as did her two other daughters. Along with her oldest daughter, Laura, Berger has the PALB2 mutation, as does her middle daughter, Annie. Three more family members also have it and other relatives are being tested.

In July, Berger had her ovaries and fallopian tubes removed to prevent any cancer from developing. She also plans to have a prophylactic double mastectomy. Her daughters will both be monitored closely.

“I feel like I've had a really good life. There's been tough times, and this is certainly one of them. But it's been OK,” she said, noting she's working on a memoir titled, "My Life on Deadline."

After The New York Times published Berger’s article about PALB2 in August, doctors reported a flood of questions from patients.

“A lot of phone calls, mostly from women who we've taken care of in the last decade, who wanted to know if, in fact, they had been tested for this gene, said Dr. Elisa Port, chief of breast cancer surgery at Mount Sinai Hospital in New York.

“There was a lack, I would say, of general knowledge or general public knowledge about this gene because it is much less common.”

Breast cancer patients who received genetic screens before 2014 should be tested for the PALB2 mutation. Those who have it, should understand steps they can take, such as preventive surgeries to remove the breasts or ovaries to reduce the risk of developing cancer.

There are also other gene mutations to be aware of, such as CHEK2. Women carrying it have a moderate risk for developing breast cancer, ranging from 23%-48% depending on their variant and family history, genetic experts said. Men with a CHEK2 mutation have an increased risk of developing prostate cancer.

In total, there are 11 breast cancer predisposition genes, with BRCA1 and BRCA2 carrying the highest risk.

Genetic testing used to be costly, and require doctor’s orders and appointments. But anyone can now buy a fairly inexpensive testing kit online and receive some answers without leaving home as part of a growing industry known as direct-to-consumer genetic testing.

It usually means providing a saliva sample and sending it back to the company for lab analysis, with the results accessible via a secure online portal or sent in a letter. Depending on the company, a physician doesn’t necessarily have to be involved to order the kit or get the findings.

A direct-to-consumer test is often not as comprehensive as screening done in a clinic and may look at just a few BRCA variants, when there are more than 1,000 with some clinical significance, for example.

If you're truly concerned about your risk and have a family history, a clinically validated test would be the best option, followed by a conversation with a genetic counselor, experts advised.