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Dideoxy fingerprinting assay for BRCA1 mutation analysis.

Publication ,  Journal Article
Lancaster, JM; Berchuck, A; Futreal, PA; Wiseman, RW
Published in: Mol Carcinog
July 1997

Since the isolation of BRCA1, the familial breast/ovarian cancer predisposition gene, much effort has been invested in characterizing the mutation spectrum. The large size of the gene and the wide distribution of its more than 100 mutations has increased the challenge of this endeavor such that traditional mutation detection techniques are inadequate. We examined the sensitivity of dideoxy fingerprinting (DDF), which combine a Sanger sequencing reaction with multiple-fragment single-strand conformation analysis (SSCA), as a mutation detection technique to screen BRCA1. Here we describe the technique and compare its sensitivity with that of SSCA in detecting 21 previously described BRCA1 sequence variants. All the variants were detected by DDF, but only 17 of 21 (81%) were observed by SSCA under standard conditions. Three of four alterations missed by SSCA were base substitutions. As a BRCA1 mutation detection technique, DDF was more sensitive than SSCA and may prove to be a useful research tool in defining the mutation spectrum within this and other genes.

Duke Scholars

Published In

Mol Carcinog

ISSN

0899-1987

Publication Date

July 1997

Volume

19

Issue

3

Start / End Page

176 / 179

Location

United States

Related Subject Headings

  • Sensitivity and Specificity
  • Polymorphism, Single-Stranded Conformational
  • Polymerase Chain Reaction
  • Oncology & Carcinogenesis
  • Humans
  • Genes, BRCA1
  • DNA, Neoplasm
  • DNA Mutational Analysis
  • DNA Fingerprinting
  • Breast Neoplasms
 

Citation

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MLA
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Lancaster, J. M., Berchuck, A., Futreal, P. A., & Wiseman, R. W. (1997). Dideoxy fingerprinting assay for BRCA1 mutation analysis. Mol Carcinog, 19(3), 176–179.
Lancaster, J. M., A. Berchuck, P. A. Futreal, and R. W. Wiseman. “Dideoxy fingerprinting assay for BRCA1 mutation analysis.Mol Carcinog 19, no. 3 (July 1997): 176–79.
Lancaster JM, Berchuck A, Futreal PA, Wiseman RW. Dideoxy fingerprinting assay for BRCA1 mutation analysis. Mol Carcinog. 1997 Jul;19(3):176–9.
Lancaster, J. M., et al. “Dideoxy fingerprinting assay for BRCA1 mutation analysis.Mol Carcinog, vol. 19, no. 3, July 1997, pp. 176–79.
Lancaster JM, Berchuck A, Futreal PA, Wiseman RW. Dideoxy fingerprinting assay for BRCA1 mutation analysis. Mol Carcinog. 1997 Jul;19(3):176–179.
Journal cover image

Published In

Mol Carcinog

ISSN

0899-1987

Publication Date

July 1997

Volume

19

Issue

3

Start / End Page

176 / 179

Location

United States

Related Subject Headings

  • Sensitivity and Specificity
  • Polymorphism, Single-Stranded Conformational
  • Polymerase Chain Reaction
  • Oncology & Carcinogenesis
  • Humans
  • Genes, BRCA1
  • DNA, Neoplasm
  • DNA Mutational Analysis
  • DNA Fingerprinting
  • Breast Neoplasms