Uptake of BRCA1 rearrangement panel testing: In individuals previously tested for BRCA1/2 mutations

Kristen Mahoney Shannon, Alona Muzikansky, Gayun Chan-Smutko, Kristen Baker Niendorf, Paula D. Ryan

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


PURPOSE: Individuals undergoing genetic testing for BRCA1/2 mutations are routinely counseled about the sensitivity and specificity of testing. In August 2002, testing for 5 large genomic rearrangements in the BRCA1 gene that would not have been detected with full gene sequence analysis became commercially available. We present our data on uptake of the BRCA1 rearrangement panel testing in our clinical cancer genetics program. METHODS: Women who participated in our clinical genetic testing program and had previously received an uninformative negative or variant of uncertain significance result from BRCA1/2 full gene sequencing were invited to consider BRCA1 rearrangement panel testing. RESULTS: Overall, 18/72 individuals underwent BRCA1 rearrangement panel testing. No significant differences were found in the levels of BRCAPRO scores (P = 0.406), age at testing (P = 0.986), number of children (P = 0.35) or number of siblings (P = 0.4) between individuals who chose to pursue additional testing with the rearrangement panel and those who declined. Fisher's Exact Test analysis showed that there is a negative association between having breast or ovarian cancer and being inclined to undergo rearrangement panel testing (P = 0.013). CONCLUSION: Individuals who undergo genetic testing will not consistently pursue additional or enhanced genetic testing. Future research is needed to clearly elucidate the factors associated with uptake of additional genetic testing.

Original languageEnglish (US)
Pages (from-to)740-745
Number of pages6
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 2006


  • BRCA1 rearrangement panel
  • BRCA1/2 testing
  • Decliners of genetic testing
  • Genetic testing uptake


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