Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
-
Paola Concolino
,
Enrica Mello
Abstract
Background: Currently, multiplex ligation-dependent probe amplification (MLPA) is the most commonly used technique for the detection of large genomic rearrangements (LGRs) in the BRCA1/2 genes. However, a very fast assay, the BRCA1/2 multiplex amplicon quantification (MAQ), has been recently developed by Multiplicom.
Methods: As no data regarding the application of MAQ method to BRCA1/2 genes are available in literature, here we compared for the first time the performance of the MAQ assay with MLPA by using several positive BRCA1/2 LGRs DNA samples (previously tested by MLPA).
Results: MAQ method was able to detect all BRCA1/2 LGRs and no false-positive or -negative results were obtained in independent repetitive experiments.
Conclusions: We can affirm that MAQ, as well as MLPA method, results to be valid and reproducible tools for molecular diagnostics and we are confident that this assay can be used for BRCA1/2 mutational screening as a fast and safe alternative to MLPA, particularly in the first line of analysis.
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©2014 by Walter de Gruyter Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Colorectal cancer and screening programs: not only analytical issues
- Reviews
- Laboratory diagnostics of inherited platelet disorders
- Reticulated platelets: analytical aspects and clinical utility
- Genetics and Molecular Diagnostics
- Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
- General Clinical Chemistry and Laboratory Medicine
- Establishing, harmonizing and analyzing critical values in a large academic health center
- Standardization of DiaSorin and Roche automated third generation PTH assays with an International Standard: impact on clinical populations
- First fully automated immunoassay for anti-Müllerian hormone
- A multicenter evaluation of dysthyroxinemia in a defined patient cohort
- New biomarkers in diagnosis of early onset preeclampsia and imminent delivery prognosis
- Soluble Fms-like tyrosine kinase-1 to placental growth factor ratio in mid-pregnancy as a predictor of preterm preeclampsia in asymptomatic pregnant women
- Development of a new immunoassay for the detection of ethyl glucuronide (EtG) in meconium: validation with authentic specimens analyzed using LC-MS/MS. Preliminary results
- Optimizing centrifugation of coagulation samples in laboratory automation
- Evaluation of the automated coagulation analyzer CS-5100 and its utility in high throughput laboratories
- A new sampling device for faecal immunochemical testing: haemoglobin stability is still an open issue
- Reference Values
- Faecal haemoglobin concentrations vary with sex and age, but data are not transferable across geography for colorectal cancer screening
- Cancer Diagnostics
- Enhanced miR-182 transcription is a predictor of poor overall survival in colorectal adenocarcinoma patients
- Importance of promoter methylation of GATA4 and TP53 genes in endometrioid carcinoma of endometrium
- Frequent methylation of HOXA9 gene in tumor tissues and plasma samples from human hepatocellular carcinomas
- Letters to the Editor
- Further comments on “Critical review of laboratory investigations in clinical practice guidelines: proposals for the description of investigation”
- A questionnaire study among nurses: awareness of blood and urine sample collection procedures
- Measurement uncertainty and clinical interpretation of measurement results
- Laboratory automation: how will you select the boarding assays?
- Improvement and evaluation of a 1,2-dioleoylglycerol method for measuring pancreatic lipase catalytic activity in serum
- The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family
- 1,5 Anhydroglucitol serum concentration as a biomarker for screening gestational diabetes in early pregnancy
- A rare condition: IgE type monoclonal gammopathy of undetermined significance
- Laboratory analysis of intraosseous blood: bad to the bone?
Artikel in diesem Heft
- Frontmatter
- Editorial
- Colorectal cancer and screening programs: not only analytical issues
- Reviews
- Laboratory diagnostics of inherited platelet disorders
- Reticulated platelets: analytical aspects and clinical utility
- Genetics and Molecular Diagnostics
- Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
- General Clinical Chemistry and Laboratory Medicine
- Establishing, harmonizing and analyzing critical values in a large academic health center
- Standardization of DiaSorin and Roche automated third generation PTH assays with an International Standard: impact on clinical populations
- First fully automated immunoassay for anti-Müllerian hormone
- A multicenter evaluation of dysthyroxinemia in a defined patient cohort
- New biomarkers in diagnosis of early onset preeclampsia and imminent delivery prognosis
- Soluble Fms-like tyrosine kinase-1 to placental growth factor ratio in mid-pregnancy as a predictor of preterm preeclampsia in asymptomatic pregnant women
- Development of a new immunoassay for the detection of ethyl glucuronide (EtG) in meconium: validation with authentic specimens analyzed using LC-MS/MS. Preliminary results
- Optimizing centrifugation of coagulation samples in laboratory automation
- Evaluation of the automated coagulation analyzer CS-5100 and its utility in high throughput laboratories
- A new sampling device for faecal immunochemical testing: haemoglobin stability is still an open issue
- Reference Values
- Faecal haemoglobin concentrations vary with sex and age, but data are not transferable across geography for colorectal cancer screening
- Cancer Diagnostics
- Enhanced miR-182 transcription is a predictor of poor overall survival in colorectal adenocarcinoma patients
- Importance of promoter methylation of GATA4 and TP53 genes in endometrioid carcinoma of endometrium
- Frequent methylation of HOXA9 gene in tumor tissues and plasma samples from human hepatocellular carcinomas
- Letters to the Editor
- Further comments on “Critical review of laboratory investigations in clinical practice guidelines: proposals for the description of investigation”
- A questionnaire study among nurses: awareness of blood and urine sample collection procedures
- Measurement uncertainty and clinical interpretation of measurement results
- Laboratory automation: how will you select the boarding assays?
- Improvement and evaluation of a 1,2-dioleoylglycerol method for measuring pancreatic lipase catalytic activity in serum
- The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family
- 1,5 Anhydroglucitol serum concentration as a biomarker for screening gestational diabetes in early pregnancy
- A rare condition: IgE type monoclonal gammopathy of undetermined significance
- Laboratory analysis of intraosseous blood: bad to the bone?
