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Supporting data for "Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2".

Dataset type: Genomic
Data released on August 27, 2015

Dean M; Boland J; Yeager M; Im KM; Garland L; Rodriguez-Herrera M; Perez M; Mitchell J; Roberson D; Jones K; Lee HJ; Eggebeen R; Sawitzke J; Bass S; Zhang X; Robles V; Hollis C; Barajas C; Rath E; Arentz C; Figueroa JA; Nguyen DD; Nahleh Z (2015): Supporting data for "Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2". GigaScience Database. https://doi.org/10.5524/100154

DOI10.5524/100154

Germline mutations in the BRCA1 and BRCA2 genes account for 20 to 25% of inherited breast cancer and about 10% of all breast cancer cases. Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorectomy, hormonal prevention therapy, improved screening, and targeted therapies such as PARP-inhibition. We estimate that African Americans and Hispanics are 4 to 5 times less likely to receive BRCA screening, despite having similar mutation frequencies as non-Jewish Caucasians and these populations have higher breast cancer mortality. To begin addressing this health disparity, we initiated a nationwide trial of BRCA testing of Latinas with breast cancer. Patients were recruited through community organizations, clinics, public events and through the mail and internet. Subjects completed the consent process and questionnaire, and provided a saliva sample by mail or in person. DNA from 120 subjects was used to sequence the entire BRCA1 and BRCA2 coding regions and splice sites, and validation of pathogenic mutations with a total material cost of $85/subject. Subjects ranged in age from 23-81 years (mean age of 51 years), 6% had bilateral disease, 57% were ER/PR+, 23% HER2+, and 17% had triple-negative disease.

Additional details

Read the peer-reviewed publication(s):

  • Dean, M., Boland, J., Yeager, M., Im, K. M., Garland, L., Rodriguez-Herrera, M., Perez, M., Mitchell, J., Roberson, D., Jones, K., Lee, H. J., Eggebeen, R., Sawitzke, J., Bass, S., Zhang, X., Robles, V., Hollis, C., Barajas, C., Rath, E., … Nahleh, Z. (2015). Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. GigaScience, 4(1). https://doi.org/10.1186/s13742-015-0088-z

Additional information:

https://clinicaltrials.gov/show/NCT01251900

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Table Settings
Sample ID Common Name Scientific Name Sample Attributes Taxonomic ID Genbank Name
DL0099789 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human
DL0099790 Human Homo sapiens Health or disease status of specific host at time of collection:Affected, breast cancer
Sex:female [PATO:0000383]
9606 human
DL0099791 Human Homo sapiens Health or disease status of specific host at time of collection:Affected, breast cancer
Sex:female [PATO:0000383]
9606 human
DL0099792 Human Homo sapiens Health or disease status of specific host at time of collection:Affected, breast cancer
Sex:female [PATO:0000383]
9606 human
DL0099793 Human Homo sapiens Health or disease status of specific host at time of collection:Affected, breast cancer
Sex:female [PATO:0000383]
9606 human
DL0099794 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human
DL0099795 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human
DL0099796 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human
DL0099797 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human
DL0099798 Human Homo sapiens Sex:female [PATO:0000383]
Health or disease status of specific host at time of collection:Affected, breast cancer
9606 human

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Table Settings

File Name Description Sample ID Data Type File Format Size Release Date File Attributes Download
description of the files Readme TEXT 1.76 kB 2015-08-04 MD5 checksum: ccf36ccbd7e0f96210d65763302ce5a7
directory of .bam and .bai files for HiQ sample set1 Directory UNKNOWN 1.90 GB 2015-08-04
directory of .bam and .bai files for HiQ sample set2 Directory UNKNOWN 2.99 GB 2015-08-04
directory of .bam and .bai files for standard enzyme sample set1 Directory UNKNOWN 2.40 GB 2015-08-04
directory of data coverage files Directory UNKNOWN 79.19 kB 2015-08-04
directory of data coverage files Directory UNKNOWN 242.91 kB 2015-08-04
directory of data coverage files Directory UNKNOWN 47.77 kB 2015-08-04
directory of IGV screenshots of selected mutations Directory UNKNOWN 500.28 kB 2015-08-04
directory of trace files Directory UNKNOWN 4.28 MB 2015-08-04
Other EXCEL 194.87 kB 2015-08-04 MD5 checksum: f8f276910c7271aca1d233351d552b2f
Date Action
August 27, 2015 Dataset publish
November 5, 2015 Manuscript Link added : 10.1186/s13742-015-0088-z