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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer
T Hiramoto1, T Nakanishi, T Sumiyoshi
1Department of Molecular Pathology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Oncogene
|June 11, 1999
Summary
A novel gene, RAD54B, involved in DNA repair and recombination, was identified. Mutations in RAD54B were found in human cancers, suggesting its role in cancer development.
Area of Science:
- Genetics
- Molecular Biology
- Cancer Research
Background:
- Recombination is crucial for genome stability, and defects are linked to cancer.
- Previous studies implicated BRCA1, BRCA2, NBS1, and RAD51 in recombination and cancer.
- Known RAD52 epistasis group members are rarely mutated in human cancers, prompting a search for novel genes.
Purpose of the Study:
- To identify novel genes involved in DNA recombination and their potential role in cancer.
- To characterize a newly discovered gene, RAD54B, and its functional significance.
Main Methods:
- Isolation and characterization of a novel gene, RAD54B, from the SNF2 superfamily.
- Sequence analysis revealing homology to RAD54 and presence of DNA/RNA helicase motifs.
- Expression analysis in human tissues.
- Mutation analysis in human primary cancers (lymphoma and colon cancer).
- Chromosomal mapping of RAD54B.
Main Results:
- RAD54B, homologous to RAD54, was identified with DNA/RNA helicase motifs.
- RAD54B expression is high in testis and spleen, sites of active recombination.
- RAD54B maps to chromosome 8q21.3-q22, a region prone to cancer-related abnormalities.
- Homozygous mutations in conserved RAD54B positions were found in primary lymphoma and colon cancer.
Conclusions:
- RAD54B is a novel recombination protein potentially acting with the RAD52 epistasis group.
- Alterations in RAD54B function may contribute to the development of certain human cancers.
- RAD54B is a candidate gene for cancer-related chromosomal abnormalities.
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