In the United States, women who are having a history of breast cancer in their generations have been getting screened for mutation in two genes that are known as BRCA1 and BRCA2 to find out whether they are at a higher risk of the disease. Now health care experts have advised women who have been tested for earlier two breast cancer mutations before 2014 need to undergo genetic screening again for a lesser-known mutation that is found in a gene, which is called PALB2. Experts have said that people who are identified with this new mutation are at a higher risk of being diagnosed with breast cancer than those people who are found with the BRCA mutations. As per the oncologists, the new mutation that is not widely known shoots up the risk of ovarian and pancreatic cancer among people. Now, people who have been being screened for breast cancer might be tested for PALB2 mutations. There have been many women who have not been tested for PALB2 mutations in 2014. Experts have said that these women might be in a false sense of security if they are not identified with the BRCA mutations. The BRCA mutations are quite familiar to many people and very few people know about this new mutation. Dr. Peter Hulick has said that hereditary breast cancer risk screening requires to go further than BRCA1 and BRCA2 mutations. Screening for breast cancer should include genes like PALB2 as well. Dr. Peter Hulick is the medical chief of the Mark R. Neaman Center for Personalized Medicine from Northshore University HealthSystem. Dr. Hulick has said that it is important to raise awareness among physicians and patients; else, patients will have a wrong understanding of their genetic testing.
A significant association of medical geneticists has released a new guideline that says that patients who are found with PALB2 mutations should be tracked in the same way as patients who are identified with the BRCA mutations. Health experts have said that the prevalence of PALB2 mutation might be due to family history. They have claimed that mastectomies might be an alternative to cut down the risk of breast cancer in some people. The American College of Medical Genetics and Genomics has issued a guideline for breast cancer that has termed PALB2 mutation as the third most concerning breast cancer gene after BRCA1 and BRCA2. The Medical Genetics Organization and the National Comprehensive Cancer Network as well have issued guidelines stating that women with PALB2 mutation should undergo mammograms and MRIs after every six months. These organizations have updated their guidelines considering the findings of a peer-reviewed study that has been done by a group of cancer genetics experts. Dr. Peter Hulick has found that women who are found with PALB2 mutation are 40 to 60 percent at greater risk of being diagnosed with breast cancer. With the new guideline, people can include PALB2 testing in their health plan along with preplanned family history tools. The co-author of the new guideline, Dr. Douglas R Stewart has said that PALB2 mutation can be referred to as BRCA3 as well due to its importance in the risk of developing breast cancer. A genetic counselor from Seattle Cancer Care Alliance, Everett Lally has said that during breast cancer testing, family history, and psychological contemplations as well are essential. He has said that women who have first-degree relatives who are diagnosed with breast cancer can easily decide on a bilateral mastectomy as compared to women who have PALB2 mutation and a history of breast cancer in the family.
The BRCA mutations have received much attention in 2013 when actress Angelina Jolie has undergone a prophylactic mastectomy after she has been identified with BRCA mutations. As per the reports, her mother has been diagnosed with breast cancer and has lost her life due to ovarian cancer. Earlier genetic screening has been quite expensive, at that time experts have done target-specific testing for breast cancer. However, now genetic testing has become quite cheap. Dr. Peter Hulick has said that still, there are many women who do not have access to genetic testing for breast cancer. The National Cancer Institute has reported that women are at a 12 percent risk of being diagnosed with breast cancer and a 1.2 percent risk of being diagnosed with ovarian cancer in their lifetime. Health experts have said that the PALB2 mutation is not linked to the Ashkenazi Jewish population unlike BRCA1 and BRCA2 mutations. They have said that PALB2 mutation is generally found in French Canadian and Greek women; however, there is a need for further research. The new guideline for PALB2 mutation specifically for women who have a family history of pancreatic cancer recommends pancreatic testing that includes MRIs of the pancreas along with endoscopic ultrasound. A study that has been released in the Journal of Gastrointestinal Surgery has found that early diagnosis of the disease is very crucial. Health experts have said that encouraging medical insurances that cover genetic testing for breast cancer will be beneficial.
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