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BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing
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Journal Article
BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing
2020
Overview
Correspondence to Ms Anna Fagotti, Woman and Child's Health Department, Universita Cattolica del Sacro Cuore Facolta di Medicina e Chirurgia, Roma, Italy; annafagotti70@gmail.com We read with great interest the recently published ASCO guidelines regarding the need for genomic testing in patients with epithelial ovarian cancer.1 The authors made a notable effort to further the field as it pertains to germline and somatic mutations in patients with epithelial ovarian cancer and to personalize its management. Formalin-fixed, paraffin-embedded quality, different DNA extraction protocols, and level of DNA integrity testing may influence the quality of the extracted DNA, muddying sequencing and subsequent analysis.3 More recently, fresh frozen tissue has been proposed as an alternative procedure.4 5 This tissue handling seems to minimize damage to nucleotides, allowing extraction of high-quality DNA, enabling the identification of gBRCA large genomic rearrangements in tumor tissue.6 Indeed, 10 of 12 tBRCA wild-type samples were due to large genomic rearrangements, reported by Myriad test but not detected by Foundation Medicine Kit. With this regard, in 456 patients with high-grade serous carcinoma, we found that commitment of all professionals enables fresh-frozen, tissue-based BRCA testing to identify up to 32% of patients with the tBRCA mutation (including those with germline large genomic rearrangements), ruling out 6% of women who would have been missed if only gBRCA testing had been performed.7 Lastly, it remains unclear which is the most cost-effective approach.8 According to the ASCO guidelines,1 all patients with epithelial ovarian cancer with no gBRCA mutation will require tumor testing to unmask the presence of a somatic mutation.
Publisher
Elsevier Inc,Elsevier Limited
