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Study Description

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.

  • Study Types: Case Set, Tumor vs. Matched-Normal, Exome Sequencing
  • Number of study subjects that have individual level data available through Authorized Access: 108

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Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Whole Genome Sequencing Illumina 101bp paired end reads N/A N/A
Whole Exome Sequencing Agilent Agilent selected, 76bp paired end reads N/A N/A
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Diseases/Traits Related to Study (MESH terms)
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