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Genetics and Molecular Biology

Print version ISSN 1415-4757

Abstract

HERMAN, Sandra et al. Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses. Genet. Mol. Biol. [online]. 2012, vol.35, n.1, pp.53-56.  Epub Jan 06, 2012. ISSN 1415-4757.  http://dx.doi.org/10.1590/S1415-47572012005000001.

We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized deletions. Alternatively, large exons could be completely covered by narrow-spaced MLPA probes.

Keywords : mutation analysis; DNA sequencing; PCR; hereditary breast cancer; model calculations.

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