This mutation increases a woman’s breast cancer risk nearly as much as BRCA. What to know

·5 min read

Have you heard of PALB2?

Everyone has two PALB2 genes, one from their mother and one from their father. When the genes work properly, they make a protein that works with another gene to repair damaged DNA and stop tumor growth.

But sometimes people inherit a mutated gene. When PALB2 is mutated, it can’t suppress tumor growth, increasing a person’s risk for getting cancer in certain parts of their body, including breasts, ovaries, pancreas and prostate, said Sara Rhode, a genetic counselor at the Cleveland Clinic Maroone Cancer Center in Weston.

Doctors knew PALB2, when mutated, could increase a person’s risk for certain types of cancer. But recent research has shown that women with mutated PALB2 genes are at risk for breast cancer nearly as much as those who have the more well-known BRCA genetic mutations, said Dr. Cassann Blake, a breast oncology surgeon at Cleveland Clinic’s Weston location.

This makes PALB2 the “third most important breast cancer gene after BRCA1 and BRCA2,” according to the American College of Medical Genetics and Genomics.

Genetic testing is how mutated genes are identified, and while it can be helpful in determining a woman’s risk for breast cancer, not every woman needs to be tested, according to the American Cancer Society.

Doctors usually have patients undergo a health assessment, which looks at a variety of factors, including the woman’s personal and family history of cancer, to determine if testing is needed.

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However, clinical testing of PALB2 hasn’t been available for as long as genetic testing of BRCA1 and BRCA2, so it’s likely that patients who were tested prior to 2013 didn’t have their PALB2 analyzed, according to Yale’s School of Medicine.

“So now, what we’re doing is, those patients that met criteria for genetic testing in the past, we’re bringing them back to retest with what we call expanded genetic testing,” said Dr. Alejandra Perez, a breast medical oncologist with Sylvester Comprehensive Cancer Center at the University of Miami.

Does the PALB2 mutation increase a woman’s risk of cancer?

The PALB2 mutation is associated with an increased risk of breast cancer, which the Centers for Disease Control and Prevention says is the most common cancer diagnosed in women in the United States, excluding skin cancers. Men can get breast cancer too, but it’s rare. A PALB2 mutation can also increase a person’s risk for ovarian and pancreatic cancer.

For women in the general population, the lifetime risk of developing breast cancer is 12.9% or 1 in 8, according to the National Cancer Institute.

For women with a mutated PALB2, the lifetime risk of developing breast cancer by age 70 is higher, about 40% to 60%, said Blake, the Cleveland Clinic doctor.

Women with BRCA mutations can have up to an 80% of developing breast cancer, said Perez, the Sylvester doctor who is the medical director of the Braman Family Breast Cancer Institute in Plantation.

Women with a family history of breast cancer are at higher risk of developing breast cancer. However, it’s worth noting that most women with a family history of breast cancer “do not have an inherited gene change that greatly affects their risk,” according to the American Cancer Society. Likewise, a woman can have a mutated gene even if she doesn’t have a family history of cancer, Perez said.

(From left to right) Dr. Cassann Blake, breast oncology surgeon at Cleveland Clinic’s Weston location; Dr. Alejandra Perez, a breast medical oncologist with Sylvester Comprehensive Cancer Center; and Dr. Irman Forghani, a geneticist at Sylvester Comprehensive Cancer Center.
(From left to right) Dr. Cassann Blake, breast oncology surgeon at Cleveland Clinic’s Weston location; Dr. Alejandra Perez, a breast medical oncologist with Sylvester Comprehensive Cancer Center; and Dr. Irman Forghani, a geneticist at Sylvester Comprehensive Cancer Center.

How can the PALB2 gene be detected?

Like other gene mutations, PALB2 can be detected through genetic testing, either through a blood or saliva test.

And, yes, breast cancer caused by PALB2 can be detected through mammograms and MRIs just like other gene mutations such as BRCA1 and BRCA2, Blake said.

Is breast cancer treatment different for people with PALB2?

People with PALB2 are slightly more prone to develop an “estrogen receptor negative breast cancer, which increases the likelihood that their cancer may need to be treated with chemotherapy,” Blake said.

Cancer is also sometimes more aggressive in women with PALB2 compared to women who don’t have a genetic defect, according to Dr. Irman Forghani, a geneticist who works at Sylvester Comprehensive Cancer Center.

Perez said PALB2 patients also share some characteristics: The women developing cancer are usually younger (they’re premenopausal), they might have lymph node involvement, and their diagnosis is usually triple-negative breast cancer or bilateral breast cancer. The tumors are usually bigger, too, due to the late diagnosis.

And while standard breast cancer treatments do exist, such as mastectomy and chemotherapy, some patients will undergo new treatments that are being tested in clinical trials.

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What can women with a PALB2 mutation do to their lower risk?

In terms of testing, women with the mutation should alternate every six months between breast MRIs and mammograms, according to Perez and Blake. This way, if cancer does start to develop, it can be detected early.

Women with the PALB2 mutation should start screening for breast cancer at 30, said Forghani, the geneticist who works in Sylvester’s division of Clinical and Translational Genetics.

Women with the PALB2 mutation who have a family history of breast cancer can also undergo a preventative double mastectomy to lower their risk, the doctors said.

Women should consider lifestyle changes, too, to reduce their risk of breast cancer., including not smoking, not drinking too much alcohol, eating healthy and exercising to avoid being overweight. Obesity can increase a woman’s risk for breast cancer.

“My message to women is, ‘We are all at risk. Just being a woman puts us at risk,’ ” Perez said. “Know your risk. It’s not the same for everybody ... That’s a discussion that they need to have with their physician. They need to ask, ‘What is my risk of developing breast cancer?’ and then develop a plan that works for them.”

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