To be, or not to be, that is the question…” not just being asked by Hamlet in William Shakespeare’s play but also by young women around the world when it comes to being tested for the BRCA mutation. A recent study, led by a team of researchers at the prestigious Dana-Farber Cancer Institute, shows that more young women diagnosed with breast cancer are choosing TO BE tested so that they can make an informative treatment decision.

What are BRCA1 and BRCA2 genes?

BRCA1 and BRCA2 are abbreviations for genes known as breast cancer 1 and 2. Under normal (non-cancerous) circumstances, the BRCA genes help repair damaged DNA in cells or destroy cells if the DNA cannot be repaired. However, if any of these BRCA genes are mutated then the normal reparatory functions of these genes are compromised resulting in improper DNA repair, which can lead to additional genetic alternations. Specific inherited mutations in BRCA1 and BRCA2 have been linked to an increase in the risk of female breast and ovarian cancers.

BRCA1 genetic testing – Then and NOW

A current study published in JAMA Oncology attempted to identify if BRCA genetic testing affected treatment decisions of women diagnosed with breast cancer at 40 years of age and younger. The study reported that more young women diagnosed with breast cancer are undergoing BRCA1 and BRCA2 genetic testing with every passing year from 2006 to 2013. Moreover, the researchers noticed a significant spike in BRCA gene testing in 2012 and 2013, due to the ‘Angelina Jolie effect’ – where Angelina Jolie chronicled her decision to undergo preventive double mastectomy followed by removal of her ovaries and fallopian tubes in New York Times based on her BRCA testing results.

Results of this study

87% of the women under the age of 40 diagnosed with breast cancer between 2006-2013 reported that they had undergone BRCA genetic testing within 1 year of their diagnosis. Furthermore, a significant portion of these women claimed that their genetic testing results influenced their treatment decision – this is despite the fact that 81% of the women tested for BRCA mutation in the study had a negative result.

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Additionally, the 95% of the young women diagnosed with breast cancer decided to undergo BRCA1 and BRCA2 genetic testing in 2013 vs. 77% in 2006. The dramatic increase seen in BRCA genetic testing in young women diagnosed with breast cancer is in part due to high levels of education surrounding the risks of BRCA mutation, improved insurance coverage, and faster reporting time for BRCA results after diagnosis. 

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So, why is it important?

While the increased awareness of the possibility of genetic risk of disease led to higher rates of BRCA testing amongst young women, it should be noted that 13% of women diagnosed with breast cancer decided not to undergo BRCA genetic testing. These women made their decision to forgo testing because they either believed that they were not at risk of a BRCA mutation or were concerned about how a positive genetic test result would affect their work environment or insurance coverage. This should encourage everyone to assess the benefits of BRCA testing for themselves, and healthcare professionals to keep educating and reaching out to more individuals and families to dispel any genetic testing myths.

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For further information about BRCA testing, please contact Doctor Leora Lewittes, High Risk Breast Screening at The Toronto Clinic.
55 Avenue Road, East Tower, Suite 2000
Toronto M5R 3L2
Telephone 416-849-5555 or email carlos.lumbao@one-mail.on.ca
Individualized breast screening/imaging recommendations
Risk reduction strategies
Family history assessment to determine likelihood of eligibility for OHIP coverage of BRCA testing
Arrange for BRCA1 & 2 and possibly ‘panel’ testing for those not eligible for OHIP funded BRCA testing
Facilitate referral for those who are eligible to Ontario High Risk Breast Screening Programs or Familial Breast Cancer Clinics.

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