%0 Journal Article
%T Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
%A Herman
%A Sandra
%A Varga
%A Dominic
%A Deissler
%A Heidrun L.
%A Kreienberg
%A Rolf
%A Deissler
%A Helmut
%J Genetics and Molecular Biology
%D 2012
%I Sociedade Brasileira de Gen¨¦tica
%R 10.1590/S1415-47572012005000001
%X 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.
%K mutation analysis
%K dna sequencing
%K pcr
%K hereditary breast cancer
%K model calculations.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47572012000100007&lng=en&nrm=iso&tlng=en