- Meeting abstract
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.
Rights and permissions
About this article
Cite this article
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 (Suppl 1), A9 (2001). https://doi.org/10.1186/bcr409
- Breast Cancer
- Breast Cancer
- Positive Control
- Positive Result
- Screening Method