Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer.

BACKGROUND: Copy number variations (CNVs) are commonly associated with malignancies, including hereditary breast and ovarian cancers. Next generation sequencing (NGS) provides solutions for CNV detection in a single run. This study aimed to compare the accuracy of CNV detection by NGS analyzing tool against Multiplex Ligation Dependent Probe Amplification (MLPA). RESEARCH DESIGN AND METHODS: In total, 1276 cases were studied by targeted NGS panels and 691 cases (61 calls in 58 NGS-CNV positive and 633 NGS-CNV negative cases) were validated by MLPA. RESULTS: Twenty-eight (46%) NGS-CNV positive calls were consistent, whereas 33 (54%) calls showed discordance with MLPA. Two cases were detected as SNV by the NGS and CNV by the MLPA analysis. In total, 2% of the cases showed an MLPA confirmed CNV region in BRCA1/2. The results of this study showed that despite the high false positive call rate of the NGS-CNV algorithm, there were no false negative calls. The cases that were determined to be negative by the NGS and positive by the MLPA were actually carrying SNVs that were located on the MLPA probe binding sites. CONCLUSION: The diagnostic performance of NGS-CNV analysis is promising; however, the need for confirmation by different methods remains.

Severe acute respiratory syndrome coronavirus (SARS-CoV-2) is not detected in the vagina: A prospective study.

OBJECTIVE: To determine whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is present in the vagina of women diagnosed with coronavirus disease-19 (COVID-19) pneumonia. STUDY DESIGN: The study was conducted prospectively in a university affiliated hospital. Forty-one women of reproductive age whose nasopharyngeal PCR test were positive for SARS-CoV-2 and clinically diagnosed with pneumonia were included in the study. Vaginal swabs were obtained for SARS-CoV-2 PCR tests when the patients were admitted to the inpatient service before pneumonia treatment was initiated. RESULTS: Vaginal swab samples of 38 patients were analysed with SARS-CoV-2 PCR tests. None of the vaginal swabs were positive for SARS-CoV-2. CONCLUSIONS: SARS-CoV-2 does not infect the vagina of women diagnosed with SARS-CoV-2 pneumonia.