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
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:
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Table SettingsSample 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 SettingsFile Name | Description | Sample ID | Data Type | File Format | Size | Release Date | File Attributes | Download |
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description of the files | Readme | TEXT | 1.76 kB | 2015-08-04 | MD5 checksum: ccf36ccbd7e0f96210d65763302ce5a7 |
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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 |