One step direct detection of recurrent mutations in the breast cancer susceptibility gene, BRCA1.

  • Authors:
    • S Richter
    • A Seth
  • View Affiliations

  • Published online on: June 1, 1998     https://doi.org/10.3892/ijo.12.6.1263
  • Pages: 1263-1270
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Germ-line mutations of the BRCA1 gene have been linked to 85% of hereditary breast and ovarian cancers. More than one hundred mutations have been reported, including several which are over represented within the Ashkenazi Jewish (185delAG) and Irish families (1294del40). These recurrent mutations are cost-effective targets for presymptomatic screening of cancer susceptibility. Most current techniques such as single strand conformation polymorphism, heteroduplex analysis, DNA sequencing, and protein translation termination assays are multistep, time consuming methods and require radioactive isotopes for mutation detection. As an alternative, we have developed a single step, non-radioactive allele specific oligonucleotide (ASO) PCR assay designed to target any known mutation. Its application to detection of the BRCA1 185delAG and 1294del40 mutations is described here. The ASO PCR is efficient, highly sensitive, non-radioactive, specific for individual mutations, performed in a single step, and is amenable to large-scale screening for other known mutations.

Related Articles

Journal Cover

June 1998
Volume 12 Issue 6

Print ISSN: 1019-6439
Online ISSN:1791-2423

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
APA
Richter, S., & Richter, S. (1998). One step direct detection of recurrent mutations in the breast cancer susceptibility gene, BRCA1.. International Journal of Oncology, 12, 1263-1270. https://doi.org/10.3892/ijo.12.6.1263
MLA
Richter, S., Seth, A."One step direct detection of recurrent mutations in the breast cancer susceptibility gene, BRCA1.". International Journal of Oncology 12.6 (1998): 1263-1270.
Chicago
Richter, S., Seth, A."One step direct detection of recurrent mutations in the breast cancer susceptibility gene, BRCA1.". International Journal of Oncology 12, no. 6 (1998): 1263-1270. https://doi.org/10.3892/ijo.12.6.1263