Who needs early BRCA testing?
IN THIS ARTICLE
Predictive testing is generally offered solely to adults at risk, who have had the appropriate counseling, are fully informed, and wish to proceed.1
Which subpopulations are more likely to have a BRCA mutation?
Breast cancer is the most frequently diagnosed malignant cancer among women worldwide, the hormone receptor (HoR)-positive subtype (either estrogen receptor-(ER) positive or progesterone receptor (PR)-positive) is the most common subtype, which can be subdivided into luminal A and luminal B based on gene expression.2
Literature suggests that BRCA testing to help inform treatment decisions should be performed as early as possible and within a reasonable turnaround time, in order for the results to be used effectively.1
NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
ABC, advanced breast cancer; ASCO, American Society of Clinical Oncology; BC, breast cancer; BRCA, breast cancer gene; ESMO, European Society for Medical Oncology; gBRCA, germline BRCA; HER2, human epidermal growth factor receptor 2; HR, hormone receptor; mBC, metastatic breast cancer; NCCN, National Comprehensive Cancer Network; SGO, Society of Gynecologic Oncology; TNBC, triple negative breast cancer.
Reference:
- Hoogerbrugge N and Jongmans MC. Finding all BRCA pathogenic mutation carriers: best practice models. European Journal of Human Genetics (2016) 24, S19–S26.
- Gong, Y. et al. ‘Impact of molecular subtypes on Metastatic Breast Cancer Patients: A seer population-based study’, Scientific Reports, (2017) 7(1). doi:10.1038/srep45411.
Take this quick quiz to test your knowledge on 'Who needs early BRCA testing?'
UP NEXT
HOW WE TEST
How do I conduct BRCA testing?
BRCA testing can be conducted across a range of breast cancer patients and their relatives – but why is early BRCA testing so important?
Some patients will have no immediate family history of BRCA-related cancers, such as breast or prostate cancer, but may still be carriers of a mutation, increasing their risk of developing cancer.
In the pedigree diagram, above, we can see that patient A is a carrier of a gBRCA mutation, despite his parents not having a cancer diagnosis. It is only when you delve further back into the family history of the patient, that you find patient A’s grandfather had a cancer diagnosis, which was most likely the trigger for patient A’s BRCA mutation status. As a result, patient A may have passed on this mutation to his offspring, making them prime candidates for a BRCA test.
Patients may be unaware of their BRCA mutation testing, highlighting the importance of testing even if an immediate family member has not had a cancer diagnosis.
Remember to also keep several traits in mind for BRCA testing as not all are ‘commonly assumed traits’, including a family history of pancreatic and/or prostate cancer.