Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
Genet. mol. biol
; 35(1): 53-56, 2012. ilus, graf
Article
in English
| LILACS
| ID: lil-617005
Responsible library:
BR1.1
ABSTRACT
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Sequence Analysis, DNA
/
Hereditary Breast and Ovarian Cancer Syndrome
Type of study:
Prognostic study
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2012
Document type:
Article
Affiliation country:
Germany
Institution/Affiliation country:
University of Ulm/DE