Analysis of 51 breast cancer susceptibility genes in BRCA1 and BRCA2 mutation-negative individuals from a South Australian cohort

Simple item page
dc.contributor.authorThompson-Peach, Chloeen_US
dc.contributor.authorLower, Karen Marieen_US
dc.contributor.authorMichael, Michael Zenonen_US
dc.contributor.authorGrist, Scott Andrewen_US
dc.date.accessioned2019-09-30T02:08:59Z
dc.date.available2019-09-30T02:08:59Z
dc.date.issued2019-09-22
dc.descriptionCopyright © Chloe Thompson-Peach. This dataset is made available under a Creative Commons Attribution (CC-BY) licenseen_US
dc.description.abstractThese files contain individually sequenced and pooled sequencing data for the analysis of 51 hereditary and putative breast cancer susceptibility genes in BRCA1/2 mutation-negative individuals. All individuals included in this study had familial (or suspected inherited) breast and/or ovarian cancer and had been referred for genetic screening. Screening did not identify any pathogenic mutations within BRCA1/2. All sequencing was carried out using the Ion Torrent Personal Genome Machine or Ion Torrent using a custom AmpliSeq gene panel. The BED files for the designed gene panel have been provided. The individually sequenced data folder contains deidentified raw sequencing data for 42 individuals. The pooled data folders contains sequencing data from 4 pools, each containing 25 individuals. Sequencing data was either provided as .fastq or .BAM, so files of each sequencing format have been provided for the initial analysis. Data can be analysed using any genomics analysis programs or algorithms (CLC Genomics Workbench and Ion Reporter were used successfully in this study). An additional 89 individually sequenced files and 4 pooled samples are available by emailing library@flinders.edu.au. Data consists of 3 zip files (6.5Gb compressed (zipped) to 3.34Gb), plus a text ReadMe file: -BED_files - 3x .bed files (26Kb) -Individual_Data - 4 Folders (1.7Gb) --Run 1 (3 samples) .fastq files --Run 2 (10 samples) .fastq files --Run 3 (29 samples) .fastq files --Run 6 (1 sample) .bam file -Pooled_data (1.8Gb) --Pool 1 (fastq).fastq --Pool 6 (fastq).fastq --Pool 11 (fastq).fastq --Pool7 (BAM).bam -ReadMe.txt (2Kb) Additional 89 individually sequenced files and 4 pooled samples is approximately 44Gb (uncompressed). Genes included in the custom AmpliSeq panel were : ATF1, ATM, BARD1, BRCA1, BRCA2, BRCC3, BRIP1, CDH1,CDKN1A, CDKN2A, CHEK1, CHEK2, CKS1B, E2F1, E2F2, E2F3, E2F4, E2F5, E2F6, EP300, FAM175A, GADD45A, HLTF, HMMR, KAT2B, MRE11A, NBN, NQO2, PALB2, PKMYT1, PRKDC, RAD50, RAD51, RAD51C, RAD51D, RBL1, RBL2, RFC2, RFC3, RFC4, RFC5, RPA1, RPRM, RPS6KA1, SFN, SLC19A1, SMARCD2, TP53, UIMC1, WEE1, XRCC2en_US
dc.identifier.citationThompson-Peach, C., Lower, K., Michael, M., & Grist, S. (2019). Analysis of 51 breast cancer susceptibility genes in BRCA1 and BRCA2 mutation-negative individuals from a South Australian cohort [Data set]. Flinders University. https://doi.org/10.25957/5d916a7a7b101en_US
dc.identifier.doihttps://doi.org/10.25957/5d916a7a7b101en_US
dc.identifier.urihttps://doi.org/10.25957/5d916a7a7b101
dc.identifier.urihttp://hdl.handle.net/2328/39309
dc.language.isoenen_US
dc.publisherFlinders Universityen_US
dc.rightsCopyright © Chloe Thompson-Peach. This dataset is made available under a Creative Commons Attribution (CC-BY) license.en_US
dc.rights.holderChloe Thompson-Peachen_US
dc.subjectInheriteden_US
dc.subjectFamilialen_US
dc.subjectBreast Canceren_US
dc.subjectMassively Parallel Sequencingen_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectSouth Australiaen_US
dc.subjectIon Torrenten_US
dc.titleAnalysis of 51 breast cancer susceptibility genes in BRCA1 and BRCA2 mutation-negative individuals from a South Australian cohorten_US
dc.typeDataseten_US
local.contributor.authorOrcidLookupLower, Karen Marie: https://orcid.org/0000-0003-2196-5234en_US
local.contributor.authorOrcidLookupMichael, Michael Zenon: https://orcid.org/0000-0001-5954-7105en_US
Files
Original bundle
Now showing 1 - 4 of 4
No Thumbnail Available
Name:
BED_files.zip
Size:
25.95 KB
Format:
Unknown data format
Description:
Download
No Thumbnail Available
Name:
Pooled_data.zip
Size:
1.72 GB
Format:
Unknown data format
Description:
Download
No Thumbnail Available
Name:
Individual_Data.zip
Size:
1.63 GB
Format:
Unknown data format
Description:
Download
No Thumbnail Available
Name:
ReadMe.txt
Size:
2.14 KB
Format:
Plain Text
Description:
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.84 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Research Data