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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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.
提供机构:
Haraldsson, Karin; Stenmark-Askmalm, Marie; Tham, Emma; Borg, Åke; von Wachenfeldt, Anna; Einbeigi, Zakaria; Rosén, Anna; Öfverholm, Anna; Arver, Brita; Paulsson-Karlsson, Ylva; Ehrencrona, Hans; Melin, Beatrice; Lindblom, Annika; Törngren, Therese; Ståhlbom, Anne Kinhult; Kuchinskaya, Ekaterina; Kvist, Anders
创建时间:
2023-08-11



