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4bases’ paper of the month – December 2020: “BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic”

Our team’s reading recommendation for this month goes to “BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic” by Minucci et al. [i], a very interesting paper with which the Molecular and Genomics Diagnostics Unit of Fondazione Policlinico Universitario Agostino Gemelli in Rome share their experience on performing BRCA tests during the first COVID-19 wave.

In March 2020 the lab had to interrupt most of the molecular tests to guarantee only those considered urgent and that could not be postponed. The study reports on the impact it had on the germline BRCA (gBRCA) testing. BRCA genes are involved in breast cancer (30 to 70% of hereditary breast cancers), in ovarian cancer (90% of hereditary ovarian cancers) but they are also known to increase risk for pancreatic and prostate cancers. Used in a cancer risk-assessment protocol as a prevention approach for relatives of patients with BRCA Pathogenic Variants, gBRCA testing cannot be considered as urgent. However, more and more of them are used to address patients towards targeted therapies and they became routine in the clinical management of ovarian and breast cancer patients. In this case gBRCA has become a mandatory and urgent molecular test as its results can change patients’ lives.

Requested by Gynecologists, Oncologists and Geneticists, the number of performed tests decreased by 60% during the month of March 2020 with 80% of them having the aim to direct patients towards personalized therapies.

This shows how much the gBRCA testing / NGS has become fully integrated into clinical oncology and it should be clear that, even in the presence of serious emergency such as the COVID-19 pandemic, cancer patients must continue to benefit from the most accurate diagnostics in order to be addressed to the most adapted and personalized therapies. 

Download and read the full paper here:


[i] Minucci A, Scambia G, Santonocito C, Concolino P, Urbani A. BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic. Mol Biol Rep. 2020 Jun;47(6):4857-4860. doi: 10.1007/s11033-020-05479-3. Epub 2020 May 9. PMID: 32388698; PMCID: PMC7210797.



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