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For years, women with breast cancer in their families have been tested for mutations in two genes, known as BRCA1 and BRCA2, to determine if they have a highly elevated risk of contracting the disease.
Now, doctors are increasingly recommending that anyone tested before 2014 undergo genetic testing again – to look for a different, much lesser-known mutation.
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It’s on a gene called PALB2; people with the mutation are almost as much at risk of developing breast cancer as those with BRCA mutations. Like BRCA mutations, this mutation also increases a patient’s risk of ovarian and pancreatic cancer.
Anyone who now undergoes genetic testing for breast cancer is likely to be screened for PALB2 mutations, which were found in 2014 to dramatically increase breast cancer risk. But many patients screened before 2014 have not been tested for it and may have a false sense of security if they are found to be free from BRCA mutations, experts said.
Even now, few patients have heard of the gene, while BRCA is familiar to many.
“Hereditary breast cancer risk assessment must go beyond BRCA1 and BRCA2 and include genes like PALB2,” said Dr. Peter Hulick, medical director of the Mark R. Neaman Center for Personalized Medicine at NorthShore University Health System. in Evanston, Illinois. “Educating doctors and patients is essential, otherwise patients get an incomplete genetic evaluation. “
This spring, a leading association of medical geneticists released new guidelines for patients and physicians advising that women with PALB2 mutations be monitored in the same way as patients with BRCA mutations and that, according to family history, mastectomies might be an option to reduce the risk in some cases. the patients.
The guide, published by the American College of Medical Genetics and Genomics, called the PALB2 mutation “the third most important breast cancer gene after BRCA1 and BRCA2.” Guidelines from the National Comprehensive Cancer Network, as well as the Medical Genetics Organization, suggest that women with the PALB2 mutation should have MRI scans and mammograms, alternating every six months. The guidance was based on peer-reviewed evidence by a team of cancer genetics experts.
Hulick said the risk of developing breast cancer is 40 to 60% higher in women with the PALB2 mutation, similar to the risk of BRCA.
“The reality is we are all at risk for something, it’s just a matter of whether we have that line of sight,” Hulick said. “It’s a real problem of awareness. Now people can include PALB2 in their care plan with structured family history tools. “
Susan Karnick’s mother had breast cancer years ago and genetic testing did not reveal any BRCA mutations. Karnick, 55, of Crystal Lake, Illinois, had breast calcification and alternated mammograms and MRIs every six months when his doctor suggested a genetic test. He showed she had PALB2.
After seeing an oncologist, she opted for a prophylactic mastectomy. After surgery, the pathology showed that she had stage 1 breast cancer in one breast and five precancerous lesions in the other, despite monitoring every six months.
“My doctor said he was glad I didn’t even wait a month or two,” Karnick said. “I didn’t need chemo or radiation therapy.”
She is enrolled in a pancreatic cancer prevention program at the University of Wisconsin and will undergo screening. Since she had previously had a hysterectomy to treat benign ovarian cysts, ovarian cancer is not a problem.
“I was so grateful for this genetic test,” she said. “It was stressful and scary, but my God, I had life-saving surgery and I wouldn’t have known it.”
Douglas R. Stewart, co-author of the new guide, said PALB2 was sometimes referred to as “BRCA3, given its importance in breast cancer risk”. People with the mutation, he added, “face difficult questions, especially about their personal risk of developing breast, ovarian and pancreatic cancers, and how to manage that risk.” .
Everett Lally, genetic counselor at the Seattle Cancer Care Alliance, said family history and psychological considerations were important. He said women with a first-degree relative with breast cancer would likely find it easier to decide on a bilateral mastectomy than a woman with a PALB2 mutation and no history of breast cancer.
The BRCA mutation received wide publicity in 2013 when actress Angelina Jolie underwent a prophylactic mastectomy after learning she had it. Her mother had breast cancer and died at age 56 from ovarian cancer.
Historically, when genetic testing was more expensive, specific targeted tests were performed. Today, Hulick said, the tests are much cheaper and, for women with an indication of breast cancer, large screening panels, which include PALB2 and other cancer genes, are often done. But he noted that genetic testing in general is still not reaching enough women.
During their lifetime, women have about a 12% chance of developing breast cancer and a 1.2% chance of developing ovarian cancer, according to the National Cancer Institute.
Unlike BRCA1 and BRCA2, which are often found in the Ashkenazi Jewish population, PALB2 is not associated with the Ashkenazi group. Some studies have found a PALB2 association with Finnish, French-Canadian and Greek women, but experts say more research is needed.
The new guidelines for the PALB2 mutation, especially for those with pancreatic cancer in their family, now suggest pancreatic screening, which involves performing MRIs of the pancreas along with an endoscopic ultrasound. The new guidelines improve care, and a recent study in the Journal of Gastrointestinal Surgery found that early detection improved outcomes, which encourages insurance to cover screening.
Heidi Marsh, 46, of Seattle, tested positive for the PALB2 mutation after her mother – a patient with breast cancer and pancreatic cancer – developed it. She said her own doctor was unaware of the gene.
“My OB-GYN was aware of my mom’s story and never suggested genetic testing,” Marsh said. “She’s never heard of it. I educated her. The oncologist she sent me to didn’t suggest surgery.
But Seattle Cancer Care Alliance, a partner at the Fred Hutchinson Cancer Research Center, where Marsh’s mother had been an oncology nurse, was aware of the gene mutation. The group assembled a team made up of a surgical oncologist, a pancreatic cancer specialist, a geneticist, a nutritionist and a social worker.
“It was life changing,” said Marsh, who had her fallopian tubes removed in April. (She has been told that most ovarian cancers first started in the tubes. She plans to remove her ovaries after menopause.)
She will undergo breast monitoring with alternating mammograms and breast MRI scans every six months, and she has had an endoscopic ultrasound to examine her pancreas.
She found a Facebook group, PALB2 Warriors, useful. Because she has a background in health care – she was a phlebotomist – she looks beyond individual publications, she said, to placebo-controlled, peer-reviewed studies for information. But when it comes to personal stories of experience with prophylactic mastectomies and reconstruction, she said it was priceless.
“It wasn’t remotely on my radar screen,” she said. “In a way, I feel empowered. But I also feel like I’m waiting for the other shoe to fall off, that cancer will be inevitable. “
But above all, she is grateful to know PALB2 and the risks involved.
“It’s a wake-up call and a wake-up call,” she said. “You can do something about it if you want to. “
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