• The BRCA1 c.788G  >   T variant in a high grade serous ovarian cancer patient: foods for thought

    1 month ago - By Springer

    Abstract
    In this report we described the case of a BRCA1/2 molecular testing performed on tumor sample in a High Grade Serous Ovarian Cancer patient with two different Next Generation Tumor Sequencing pipelines. The two clinical reports leaded to apparently different BRCA status, providing important foods for thought. After NGTS, the gene sequencing information are aligned to the reference gene sequences obtained from public databases, in order to provide an uniform nomenclature for unambiguous variant designation. However, the criteria adopted for variant reporting in tissue test are not...
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