BRCA mutation testing has been in the news a lot lately, and many of you are well aware that mutations in the BRCA1 or BRCA2 genes, which code for DNA damage repair proteins, are associated with an increased risk of breast and ovarian cancers. However, not everyone with a BRCA mutation will develop cancer, and researchers are now working on understanding how the nature of the mutation itself may better predict the risks of developing breast or ovarian cancer.
BRCA mutation testing can predict cancer risk
In a recent study, Rebbeck and colleagues report that breast and ovarian cancer risks vary by type and location of BRCA1/2 mutations. Risk of individual mutations causing breast or ovarian cancer is estimated from clinical data, cancer diagnoses, and follow-up (based on data from ~19 000 BRCA1 and ~12 000 BRCA2 mutation carriers). The gene regions were grouped into breast cancer cluster regions (BCCRs) and ovarian cancer cluster regions (OCCR) identifying areas of the gene with increased breast and ovarian cancer risk, respectively. In BRCA1 they identified 3 BCCRs and 1 OCCR. Whereas in BRCA2, they report multiple BCCRs and 3 OCCRs. Therefore, by reading deeper into the code of the mutation, it is now possible to predict the likelihood and type of cancer with higher confidence. Previously, we have known that if you have a mutation in BRCA2, you have on average an 11% chance of developing ovarian cancer by age 70. However, the new analysis revealed that if the mutation does not affect the BRCA protein size, the risk goes down to only ~3%. This knowledge can be very powerful if you are facing decisions about the future and considering preventative surgery. Scientists are hoping to design an algorithm that can calculate your risk of developing breast and ovarian cancer, incorporating the data from cluster regions in BRCA1 and BRCA2 sequences. Since BRCA mutations affect ~1 in 400 people, now is a better time than ever to streamline the breast/ovarian cancer diagnostic process based on genetic makeup, so you and your doctor can have the most detailed data, more time for earlier treatment, and greater peace of mind as a result.
How do I get screened for BRCA variants?
If you are considering BRCA mutation testing, GeneYouIn offers a simple and painless genetic test, which can identify your risks of cancer, to provide you peace of mind or to assist your doctor in devising a personalized treatment or prevention. As always, if you’ve enjoyed this article, please share it with your friends and family below and follow us on Facebook and Twitter, or subscribe to our newsletter to receive all our latest blog updates. If you have additional questions or concerns, please feel free to drop us an email or call us!
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 firstname.lastname@example.org
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.