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An unusual alteration in c-myc in tissue from a primary breast carcinoma
J M Varley1, A M Wainwright, W J Brammar
1ICI/University Joint Laboratory, University of Leicester, UK.
Abstract:
We have identified a rearranged c-myc gene in DNA from tumour tissue from a patient with an aggressive carcinoma of the breast. Analysis of this rearranged gene isolated from a size-fractionated genomic library revealed that a deletion had occurred within exon 3. This deletion, of approximately 5 kb, interrupts the coding region of exon 3, and would result in a truncated myc protein with an altered C-terminus. Sequence analysis of the rearranged c-myc gene and the sequence downstream of c-myc which is involved in the deletion has shown precisely where the breakpoint has occurred in both sequences and reveals a short region of homology which could perhaps permit illegitimate recombination between the two sequences.
Insights
Researchers found a rearranged c-myc gene in aggressive breast cancer tissue. A deletion in exon 3 resulted in a truncated myc protein, potentially impacting cancer development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The c-myc gene is a crucial proto-oncogene involved in cell growth and proliferation.
- Aberrant c-myc expression is frequently observed in various human cancers, including breast carcinoma.
- Understanding c-myc gene rearrangements is vital for elucidating cancer pathogenesis.
Observation:
- Analysis of tumor DNA from a patient with aggressive breast carcinoma revealed a rearranged c-myc gene.
- The rearrangement involved a deletion of approximately 5 kb within exon 3 of the c-myc gene.
- This deletion disrupts the coding sequence, leading to a truncated myc protein.
Findings:
- The specific breakpoint within exon 3 and the downstream sequence involved in the deletion were precisely identified.
- Sequence analysis indicated a short region of homology at the breakpoint.
- This homology suggests a potential mechanism of illegitimate recombination leading to the c-myc gene rearrangement.
Implications:
- The truncated myc protein with an altered C-terminus may have altered functional properties, contributing to aggressive tumor behavior.
- The identification of the recombination mechanism provides insights into genomic instability in cancer.
- Further research into this specific c-myc alteration could reveal novel therapeutic targets for aggressive breast cancer.