2008
DOI: 10.1007/s10549-008-0124-0
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Caution should be taken in the methodology used to confirm c.156_157insAlu BRCA2 mutation

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Cited by 3 publications
(7 citation statements)
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“…In particular, the abnormal shorter PCR product, corresponding to the delta3-transcript, was very faint and not always detectable (Figure 2a). This observation could explain why Machado et al [11] and Peixoto et al [12] report discordant results. Fragment analysis with a fluorophore on an automatic sequencer gave reliable results, which were confirmed with PCR products spanning exons 2 to 10 (data not shown).…”
Section: Resultsmentioning
confidence: 94%
“…In particular, the abnormal shorter PCR product, corresponding to the delta3-transcript, was very faint and not always detectable (Figure 2a). This observation could explain why Machado et al [11] and Peixoto et al [12] report discordant results. Fragment analysis with a fluorophore on an automatic sequencer gave reliable results, which were confirmed with PCR products spanning exons 2 to 10 (data not shown).…”
Section: Resultsmentioning
confidence: 94%
“…We wish to reply to the Letter to the Editor written by Machado and Vaz [1] concerning our recently published article on the c.156_157insAlu BRCA2 founder mutation [2], first discovered by Teugels et al [3] in a Portuguese patient living in Belgium. That letter has several misstatements about our and others' work that must not remain unchallenged.…”
mentioning
confidence: 97%
“…Machado and Vaz suggest in their letter [1] that we diagnose the c.156_157insAlu BRCA2 mutation by subjective evaluation of band intensities after RT-PCR. We think that it is clear in our paper [2], under the subheading ''Screening for the c.156_157insAlu BRCA2 mutation'', that we screen for this mutation by using two independent PCRs, one for exon 3 amplification and another specific for the Alu rearrangement.…”
mentioning
confidence: 99%
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“…All authors agree that this highly recurrent mutation initially occurred in a single patient (founder effect), but with some disagreement about which method to use for the molecular identification of the high breast cancer risk mutation carriers. In a letter to the editor of this journal, Machado and Vaz proposed a three step PCR assay for which they have a patent pending [4]. The mutant BRCA2 allele is unable to generate wild type full length mRNA, but a shorter messenger missing exon 3 (the target exon for the Alu repeat insertion).…”
mentioning
confidence: 99%