Who needs early BRCA testing?
IN THIS ARTICLE
Multiple clinical practice guidelines point to the importance of BRCA testing for patients with ovarian cancer, to inform treatment decisions and preventative interventions.
According to NCCN Guidelines and ESMO-ESGO recommendations on ovarian cancer, all patients pathologically diagnosed with ovarian cancer, fallopian tube cancer, or primary peritoneal cancer should be referred for genetic risk evaluation (e.g. germline and/or somatic BRCA1/2 testing).1,5
Which subpopulations are more likely to have a BRCA mutation?
Ovarian cancer is comprised of more than 15 distinct tumour types, each characterised by subtype-specific risk factors (environmental and genetic), precursor lesions, histopathological features, molecular events during oncogenesis, response to chemotherapy, and patient outcome.6
Broadly speaking, the various subtypes can be roughly divided into either Type I or Type 2 based on whether or not precursor lesions in the ovaries have clearly been described; if not (Type 2), where tumours may develop de novo from the tubal and/or ovarian surface epithelium.7
Epithelial carcinomas make up the majority of ovarian cancers,8,9 with around 70% being the high-grade serous subtype.7 Germline BRCA1/2 mutations are found in ~14% of high-grade serous epithelial ovarian carcinomas, and somatic BRCA1/2 mutations in ~6%.10
Ovarian cancers in BRCA1 and BRCA2 mutation carriers show almost exclusive association with epithelial ovarian carcinoma in contrast to the low likelihood of germ cell or stromal tumors seen in this population. High-grade serous histology is reported in 76.7–93% of BRCA1 and BRCA2 mutation carriers in population-based series of invasive ovarian carcinoma.11
The NCCN Guidelines and ESMO-ESGO guidelines for ovarian cancer make recommendations for targeted therapies in patients with ovarian cancer based on germline and somatic BRCA mutation testing and genomic instability testing.1,5
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.12
BRCA testing can be used for patients with ovarian, fallopian tube, or primary peritoneal cancer and their relatives – but why is early BRCA testing so important?
Find out more
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.
ASCO, American Society of Clinical Oncology; BRCA, breast cancer gene, ESGO, European Society of Gynaecological Oncology; ESMO, European Society for Medical Oncology; gBRCA, germline BRCA; NCCN, National Comprehensive Cancer Network; SGO, Society of Gynecologic Oncology.
References:
- Referenced with permission from the NCCN Guidelines in Oncology (NCCN Guidelines®) for Ovarian Cancer V1.2021. National Comprehensive Cancer Network, Inc. All rights reserved. [Accessed March 2021]. To view the most recent and complete version of the guideline go online to NCCN.org.
- Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic V2.2021. National Comprehensive Cancer Network, Inc. All rights reserved. [Accessed March 2021]. To view the most recent and complete version of the guideline go online to NCCN.org.
- Panagiotis A et al. J. Clin. Oncol. 2020; 38(11): 1222- 1248.
- Lancaster JM et al. Gynecol Oncol. 2015; 136: 3-7.
- Colombo N et al. Ann Oncol. 2019; 30(5): 672-705.
- Gilks C. J Oncol. 2010. doi: 10.1155/2010/740968.
- Koshiyama M et al. Diagnostics. 2017; 7:12. doi: 10.3390/diagnostics7010012.
- Ledermann JA et al. Ann. Oncol. 2013. 24 (Supplement 6): vi24–vi32.
- Torre LA et al. Ca Cancer Clin. 2018; 68:284-296.
- Konstantinopoulos PA et al. Cancer Discov. 2015; 5(11): 1137–54.
- Schrader A et al. Obstetrics & Gynecology. 2012; 120(2): 235-240.
- Hoogerbrugge N and Jongmans MC. Eur J Hum Genet. 2016; 24: S19-S26.
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How do I conduct BRCA testing?
BRCA testing can be conducted across a range of patients with ovarian cancer 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 ovarian 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 her 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 her 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.