Should BRCA Mutations Be Used For Breast Cancer Screening?

Should BRCA Mutations Be Used For Breast Cancer Screening?

shutterstock_153451205It is estimated that 235,000 new cases of breast cancer are diagnosed each year in the United States with more than 40,000 patients dying annually.

For some time now, the medical and scientific community has discussed the risks and benefits of screening for breast cancer by using the BRCA1 and BRCA2 mutations in the general and adult population, since it is crucial to determine if women are predisposed genetically to breast cancer.

Glenn E. Palomaki, PhD, director of the Division of Medical Screening and Special Testing at Women & Infants Hospital of Rhode Island, recently published in the November issue of the journal Genetics in Medicine a scientific commentary entitled ‘Is it time forBRCA1/2 mutation screening in the general adult population? Impact of population characteristics“.

There are well established criteria by the United States Preventive Services Task Force and the National Comprehensive Cancer Network agencies when it comes to evaluating patients with high risk factors for breast cancer. If there are records of ovarian and breast cancer within a family or an early-onset cancer, the odds of developing the disease are higher.

“With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and population impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA 2mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction,” Dr. Palomaki explained in a press release.

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Based on two other recent scientific works addressing population-based screening for breast cancer through the BRCA genes in different populations, Dr. Palomaki further added, “Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening. Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population screening, as least for the moment.”

Mutations in BRCA genes increase the odds of developing cancer, however, they are rare in the general population. Some experts think that BRCA genetic screening should only be performed to test individuals with a family history that may suggest they are carriers of the gene.

Experts also suggest that when a family member has suffered from cancer and is still alive, it is important that person is willing to take the test. If the result is positive for any of the BRCA genes, other family members should consider the screening.

In addition, people who don’t know their medical history and have early onset of breast cancer should consider the evaluation. However those who did not suffer from an early-onset cancer are unlikely to benefit from these tests. Children have low probabilities of developing these types of cancers, but according to experts, once they reach adulthood, if there is a family history of a harmful BRCA mutation, they might ask for some genetic counselling to decide whether they should preform the test.