Recontacting Patients Who have Tested Negative for BRCA1 and BRCA2 Mutations: How, Who and Why?
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In this issue of the Journal of Genetic Counseling, Robert Resta comments about the daunting prospect of re-contacting all our patients who have tested negative for BRCA1 and BRCA2 mutations when and if another major breast cancer susceptibility gene is identified. Luckily, we have been faced with a “trial run” in August of 2006 when a new test became available to detect large rearrangements in the BRCA1 and BRCA2 genes. These types of mutations would not have been detected by the sequencing test which was the only assay available prior to that time. Although the number of patients being tested for BRCA mutations has increased in the past few years as pointed out by Mr. Resta, BRCAtesting has been available commercially since 1996. As a result, significant numbers of patients had been tested during the 10 year period prior to the availability of large rearrangement testing and were thus potential candidates for the new testing. Indeed, at our center we re-contacted 319 patients who...
KeywordsHereditary breast ovarian cancer syndrome BRCA1 BRCA2 Risk notification
I am grateful to Robert Pilarski, MS, CGC for his critical review of this manuscript and for his thoughtful conversation regarding this issue.