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- Open Access
Mutation detection in familial and sporadic breast cancers by denaturing high-performance liquid chromatography (DHPLC)
Breast Cancer Research volume 3, Article number: A9 (2001)
Denaturing high-performance liquid chromatography (DHPLC) is a recently developed method for detection of mutation that is gaining importance as a screening method for analyzing familial breast cancers, as well as heterogeneous tumor material.
DHPLC was established for mutation detection in BRCA1/2 diagnostic, using more than 200 different positive controls. Up until now, 64 DNA samples from patients with familial background for breast cancer (BC) were analyzed by DHPLC for BRCA1/2 mutations. An additional 136 sporadic BC were examined for p53 mutations, analyzing exons 5-8 by DHPLC. Positive results were confirmed by direct DNA sequencing.
The analysis of 64 DNA samples from patients with familial background for BC revealed several mutations and unclassified variants (UVs). Twenty-three different p53 mutations could be detected in 138 sporadic BC. Dilution of mutant DNA by wild-type DNA revealed the high sensitivity of this method: 5% mutant DNA is sufficient to achieve a positive DHPLC result. However, confirming a positive DHPLC result by DNA sequencing is difficult in heterogeneous tumor material.
DHPLC is a reliable, high-throughput technique for detection of mutation in familial breast cancers, as well as in heterogeneous tumor material.
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Betz, B., Larbig, D., Goecke, T. et al. Mutation detection in familial and sporadic breast cancers by denaturing high-performance liquid chromatography (DHPLC). Breast Cancer Res 3, A9 (2001). https://doi.org/10.1186/bcr409
- Breast Cancer
- Breast Cancer
- Positive Control
- Positive Result
- Screening Method