The mutations of the BRCA gene are well known indicators of a person's risk of breast cancer , however, the PALB2 mutation is the third most common mutation among breast cancer gene experts, according to experts, to determine the risk of developing disease. Researchers have linked the mutation in the PALB2 gene to diseases such as breast, ovarian and pancreatic cancer, medical experts told Fox News.
Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations are the two main mutations strongly associated with inherited cancers such as breast and ovarian cancer, as well as with cancers of the pancreas, prostate and melanoma.
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Dr. Elisa Port, Head ofbreast surgery at the Mount Sinai Health System, told Fox News that the BRCA and PALB2 gene mutations share similar risks, but differ.
"PALB2 also shares these risks but not as much of a high level, "says Port.
According to Port, who is also 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 was probably 1-2%.
Family history plays a big role in breast cancer risk, according to the National Breast Cancer Foundation, and researchers help identify the genes responsible for the increased risk of inherited diseases.
A normal healthy gene lowers the risk of developing breast cancer, explains the NBCF on its webpage. However, the risk increases if the gene is abnormal, which hinders its ability to fulfill its role of preventing cancer.in the body.
Nonetheless, Port advised three courses of action for patients diagnosed with a PALB2 gene mutation:
- Get tested. If you were tested before 2014 for BRCA, ask your doctor if PALB2 was included, and if not, retest.
- Request a consultation. Consider meeting with a genetics specialist and breast surgeon to define your personal risk.
- Make a decision; Both options include "enhanced surveillance ", which means frequent mammograms and MRI for early detection of cancer, or removal of risky tissue, which may involve prophylactic mastectomy and ablation. ovaries.
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According to Port, from the pancreas, it is a tissue "at risk Can not be removed, vigilant monitoring of this organ is recommended for any signs of cancer.
Port added that New York's Mount Sinai Hospital recently launched a center providing support for navigation for patients diagnosed with BRCA, PALB2 or other genetic mutations. After patients complete an online risk assessment, they have the opportunity to meet face-to-face with specialists from the comprehensive Mount Sinai BRCA program. The center's team of specialists determines the patient's risk of developing certain cancers. The specialists personalize a specific screening protocol that the patient and his attending physician can then follow.
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"Basically we put together a program based on their risk, depending on whether it is a man or a woman, what are they at risk for, and go through the whole process so that they understand what the follow-up should be, "Port said, adding that the follow-up is next. shared with the patient's primary care physician and gynecologist. "We can give them a full essay and schedule that they can follow closer to home.
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Screening for genetic mutations is important when discussing the risk and prevention of certain diseases like cancer, Port said, noting: "It is not just BRCA and PALB2. There are others. "