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Breast_Cancer_Somatic_Genetics_Study_

We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000138 Illumina Genome Analyzer II Illumina HiSeq 2000 58
EGAD00001000898 Illumina HiSeq 2000 42
EGAD00001001322 Illumina HiSeq 2000 196
EGAD00001001337 Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina MiSeq 607
EGAD00001001338 Illumina Genome Analyzer II Illumina HiSeq 2000 49
EGAD00001001350 Illumina HiSeq 2000 8
EGAD00001002237 Illumina Genome Analyzer II Illumina HiSeq 2000 59
EGAD00001002696 HiSeq X Ten Illumina HiSeq 2000 58
EGAD00001002740 Illumina HiSeq 2000 Illumina HiSeq 2500 Illumina MiSeq 164
EGAD00010000915 Affymetrix SNP6.0 344
EGAD00010000917 Agilent miRNA microarrays 399
EGAD00010001079 Affymetrix SNP6.0 66
Publications Citations
Subclonal diversification of primary breast cancer revealed by multiregion sequencing.
Nat Med 21: 2015 751-759
481
Mutational signatures of ionizing radiation in second malignancies.
Nat Commun 7: 2016 12605
124
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
Nat Med 23: 2017 517-525
487
Clonal replacement and heterogeneity in breast tumors treated with neoadjuvant HER2-targeted therapy.
Nat Commun 10: 2019 657
29
A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies.
Nat Cancer 1: 2020 249-263
115
Pan-cancer landscape of homologous recombination deficiency.
Nat Commun 11: 2020 5584
190
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Science 376: 2022 science.abl9283
73
Spatial genomics maps the structure, nature and evolution of cancer clones.
Nature 611: 2022 594-602
35
ERα-associated translocations underlie oncogene amplifications in breast cancer.
Nature 618: 2023 1024-1032
16
Quantitative and qualitative mutational impact of ionizing radiation on normal cells.
Cell Genom 4: 2024 100499
0
A deep-learning-based genomic status estimating framework for homologous recombination deficiency detection from low-pass whole genome sequencing.
Heliyon 10: 2024 e26121
0