ID
45077
Descrição
Principal Investigator: Todd Golub, Broad Institute, Cambridge, MA and Dana Farber Cancer Institute, Boston, MA, USA MeSH: Carcinoma, Ductal, Breast https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000369 This study combined whole exome (103 samples) and whole genome (22 samples) sequencing over a total of 108 breast tumors and matched normal DNA to identify novel mutations and translocations. Samples were subjected to paired-end Illumina sequencing with goal of 30x coverage of tumor/normal for whole genomes and 100x tumor/normal coverage for whole exomes. From these sequences, we used various computational techniques to identify somatic point mutations, insertion/deletions and structural rearrangements in these tumors. From these data, we identified new insights into the rates of background mutations in these cancers, novel recurrent mutated genes, and multiple gene rearrangements. One of these rearrangements appears to be a recurrent event in breast cancer.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000369
Palavras-chave
Versões (2)
- 19/08/2022 19/08/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos
Todd Golub, Broad Institute, Cambridge, MA and Dana Farber Cancer Institute, Boston, MA, USA
Transferido a
19 de agosto de 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000369 Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes
Subject ID, and consent groups of participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- StudyEvent: SEV1
- Subject ID, and consent groups of participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- Sample ID, subject ID, and sample use variables obtained from participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- Subject ID, age, gender, country of subject origin, primary diagnosis, menopausal status, and tumor characteristics including expression subtype of HER 2, ER, and PR, stage, grade, and histology of tumors obtained from participants with breast cancer and involved in the Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes " project.
- Sample ID, clinical diagnosis, analyte type [DNA], sample type [tumor or normal], body site where sample was collected and obtained from participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
Similar models
Subject ID, and consent groups of participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- StudyEvent: SEV1
- Subject ID, and consent groups of participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- Sample ID, subject ID, and sample use variables obtained from participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
- Subject ID, age, gender, country of subject origin, primary diagnosis, menopausal status, and tumor characteristics including expression subtype of HER 2, ER, and PR, stage, grade, and histology of tumors obtained from participants with breast cancer and involved in the Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes " project.
- Sample ID, clinical diagnosis, analyte type [DNA], sample type [tumor or normal], body site where sample was collected and obtained from participants with breast cancer and involved in the "Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes" project.
C1257890 (UMLS CUI [1,2])