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Additional file 2 of Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

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Figshare2023-08-10 更新2026-04-28 收录
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Additional file 2: Table S1. Unique pathogenic/likely pathogenic variants detected in the Swedish cohort. Table S2. Splice site variants not affecting the canonical +- 1,2 basepairs. Table S3. Detailed assessment of TP53 carriers in the Swedish cohort. Table S4a. Diagnostic yield of pathogenic variants per gene in subgroups of women with breast and/or ovarian cancer. Table S4b. Pathogenic variants per gene in breast cancer subgroups. Table S5. Women with two pathogenic/likely pathogenic variants. Table S6. Gene domains and regions depicted in lolliplots. Table S7. Sequences of adapters with 6 nucleotide long barcode sequences. Table S8. Sequences of adapters with 8 nucleotide long barcode sequences. Table S9. SureSelect custom hybrid selection assay design. Table S10. Primers for cDNA sequencing and minigene assays for analyses of splicing.

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2023-08-10
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