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

Öfverholm, Anna;Törngren, Therese;Rosén, Anna;Arver, Brita;Einbeigi, Zakaria;Haraldsson, Karin;Ståhlbom, Anne Kinhult;Kuchinskaya, Ekaterina;Lindblom, Annika;Melin, Beatrice;Paulsson-Karlsson, Ylva;Stenmark-Askmalm, Marie;Tham, Emma;von Wachenfeldt, Anna;Kvist, Anders;Borg, Åke;Ehrencrona, Hans

Description

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.

Citations (0)

Mentions (0)

Metrics

Dataset Index

0.5

FAIR Score

85%

Citations

0

Mentions

0

Metrics Over Time

Publication Details

DOI

Publisher

figshare

License

Creative Commons Attribution 4.0 International

Assigned Domain

Subfield

Genetics

Field

Biochemistry, Genetics and Molecular Biology

Domain

Life Sciences

Confidence Score

94%

Source

Open Alex

Keywords

MedicineCell BiologyGeneticsFOS: Biological sciencesPharmacologyBiotechnologyMathematical Sciences not elsewhere classifiedCancerPlant BiologyComputational Biology

Normalization Factors

FT

56.73

CTw

1.00

MTw

1.00