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Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
Sohrab P Shah1, Ryan D Morin, Jaswinder Khattra
1Molecular Oncology, BC Cancer Agency, 675 West 10th Avenue, Vancouver V5Z 1L3, Canada.
Nature
|October 9, 2009
Summary
This study sequenced a metastatic breast cancer, revealing significant genetic changes from the primary tumor nine years prior. It highlights cancer
Area of Science:
- Genomics
- Cancer Biology
- Molecular Oncology
Background:
- Next-generation sequencing enables detailed characterization of somatic mutations in cancer.
- Understanding cancer evolution requires analyzing genetic changes over time.
Purpose of the Study:
- To deeply sequence the genome and transcriptome of an estrogen-receptor-alpha-positive metastatic lobular breast cancer.
- To compare somatic mutations in the metastasis with the primary tumor from 9 years earlier.
Main Methods:
- Whole-genome and whole-transcriptome sequencing at high coverage (>43-fold).
- Comparative analysis of somatic mutations between primary and metastatic tumors.
- Identification of RNA-editing events.
Main Results:
- 32 somatic non-synonymous coding mutations were identified in the metastasis.
- Five mutations were prevalent in the primary tumor, six were at lower frequencies, and 19 were new.
- Two novel RNA-editing events in SRP9 and COG3 were discovered.
Conclusions:
- Single nucleotide mutational heterogeneity can exist in primary breast cancers.
- Significant genetic evolution occurs during breast cancer progression.
- High-depth sequencing provides insights into tumor evolution and heterogeneity.
