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Characterization of DNA variants in the human kinome in breast cancer

Divyansh Agarwal1,2, Yuan Qi3, Tingting Jiang1

  • 1Department of Breast Medical Oncology of Yale University, New Haven, CT, USA.

Scientific Reports
|October 1, 2015
PubMed

Insights

This study found numerous unique, potentially impactful genetic variations in kinase genes within breast cancers. These variations, particularly in the TKL group, were more common in metastatic tumors, suggesting a role in cancer progression.

Area of Science:

  • Genomics
  • Cancer Biology
  • Molecular Oncology

Background:

  • Kinases are crucial in cancer development and represent viable therapeutic targets.
  • Understanding genetic variations in the kinome is essential for advancing breast cancer treatment.

Purpose of the Study:

  • To investigate nucleic acid variations in human kinome and cancer genes in breast cancer.
  • To identify functionally significant variants and their association with cancer progression and grade.

Main Methods:

  • DNA extraction from 73 primary and 19 metastatic breast cancer biopsies.
  • Targeted sequencing of 518 kinases and 68 cancer-related genes using SOLiD platform.
  • Analysis of non-synonymous variants and prediction of functional impact.

Main Results:

  • 1561 unique non-synonymous variants detected in kinase genes across 92 cases.
  • 74 unique variants in 43 kinases predicted to have major functional impact.
  • The TKL kinase group showed a statistically significant higher mutational load in metastatic versus primary cancers (P=0.04).
  • Histologic grade 1 and 2 cases had more high functional impact variants in SCYL2 compared to grade 3.

Conclusions:

  • Breast cancers possess a significant number of potentially functionally important nucleotide variations in kinase genes.
  • These variations occur in unique combinations, including both somatic and germline functional variants.
  • Kinase gene variations, especially in the TKL group, may play a role in breast cancer metastasis.

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