Breast cancer risk: What is the PALB2 gene mutation? Expert weighs in


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Researchers say PALB2 mutation shows significant association with inherited cancer

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BRCA gene mutations are well-known indicators of a person’s risk for breast cancer, although the PALB2 mutation is the third most prevalent breast cancer gene that people need to be aware of to determine their risk of developing the disease, say experts. Medical experts told Granthshala News that researchers have linked the PALB2 gene mutation to diseases such as breast, ovarian and pancreatic cancer.

Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutation These are the top two mutations associated with inherited cancers such as breast and ovarian cancer, as well as pancreatic, prostate and melanoma cancers.


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Alyssa Port, chief of breast surgery at Mount Sinai Health System, told Granthshala News that BRCA and PALB2 gene mutations share similar risks, yet differ.

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“PALB2 shares those risks as well, but not at a high level,” Port said.

According to Port, who also serves as director of the Dubin Breast Center at Tisch Cancer Institute at Mount Sinai, the risk of ovarian cancer with BRCA can be as high as 20% or 40%, depending on the BRCA gene. With PALB2, she estimated it to be 1-2% more likely.

According to the National Breast Cancer Foundation, family history plays a significant role in breast cancer risk, and researchers are helping to identify genes responsible for an increased risk of hereditary diseases.

A normal healthy gene reduces the risk of developing breast cancer, the NBCF states on its webpage. However, the risk is increased if the gene is abnormal, hindering the body’s ability to perform its role in preventing cancer.

“An estimated 35% of women with a mutated PALB2 gene will develop breast cancer by age 70,” the webpage reads.

Still, Port recommends three courses of action for patients diagnosed with a PALB2 gene mutation:

  • get tested. If you were tested for BRCA before 2014, ask your doctor if PALB2 was included, and if not – get tested again.
  • Take a consultation. Consider meeting with a genetic specialist and breast surgeon to define your individual risk.
  • make a decision; Two options include “enhanced surveillance,” which means repeated mammograms and MRIs to detect cancer early, or removal of risk tissue, which may include prophylactic mastectomy and removal of the ovaries.

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According to Port, since the pancreas, which is considered “at risk” tissue, cannot be removed, careful monitoring of that organ to detect any signs of cancer is recommended.

Port said Mount Sinai Hospital in New York City recently started a center providing navigation aids for patients diagnosed with BRCA, PALB2 or other genetic mutations. After patients complete an online risk assessment, they have the option of meeting in person with experts at Mount Sinai’s comprehensive BRCA program. The team of specialists at the center determines a patient’s risk of developing certain cancers. Specialists customize a specific protocol of screening that patients and their primary care physicians can follow.

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Port said, “Basically we put together a whole program based on their risk, whether they are male or female, what risk they are at risk, and go through the whole process so they understand what the follow-up should be. ” That follow-up is then shared with the patient’s primary care physician and gynecologist. “We can give them a complete writing and schedule they can follow closer to home.”

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While testing for genetic mutations is important when discussing the risk and prevention of certain diseases, such as cancer, Port said, “It’s not just BRCA and PALB2. There are others.”

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