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  • Meeting abstract
  • Open Access

Mutation detection in familial and sporadic breast cancers by denaturing high-performance liquid chromatography (DHPLC)

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Breast Cancer Research20013 (Suppl 1) :A9

  • Received: 10 May 2001
  • Published:


  • Breast Cancer
  • Breast Cancer
  • Positive Control
  • Positive Result
  • Screening Method


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.

Authors’ Affiliations

Department of Obstetrics & Gynecology, Heinrich-Heine-University, Düsseldorf, Germany


© BioMed Central Ltd 2001