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Figure 1

From: Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service

Figure 1

Study design and main results. This flowchart depicts the criteria for patient inclusion/exclusion of patients, the distribution of samples across the different massive parallel sequencing methodologies, as well as the results of pathogenic and likely pathogenic variants (PV/LPV) detected in this study. 1Results not provided. 2Private laboratories: eight patients were sequenced using gene panels that included BRCA1/2 and TP53 (panels with 16 to 207 genes); and eight patients were sequenced only for BRCA1/2 genes, while TP53 was later sequenced through Sanger sequencing at our laboratory, except for one patient for which DNA sample was not available. In total, 227 patients were sequenced only for BRCA1/2 and TP53 genes (219 in-house and eight at private laboratories), while only 30 patients were sequenced for genes beyond BRCA1/2 and TP53.

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