ArticleBMC medical genetics2007
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- Article
- Molecular Detection of Insecticide Resistance Mutations inFrontiers in cellular and infection microbiology · 2021Article
- High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.BMC research notes · 2017Article
- First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of theOncology letters · 2016Article
- Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.BMC medical genetics · 2016Article
- High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.European journal of human genetics : EJHG · 2016Article
- Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.American journal of cancer research · 2015Article
- Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.African health sciences · 2014Article
- Something Darwin didn't know about barnacles: spermcast mating in a common stalked species.Proceedings. Biological sciences · 2013Article
- Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.BMC research notes · 2013Article
- Curative Effects of ZHENG-Based Fuzheng-Huayu Tablet on Hepatitis B Caused Cirrhosis Related to CYP1A2 Genetic Polymorphism.Evidence-based complementary and alternative medicine : eCAM · 2013Article
- Long QT syndrome mutation detection by SNaPshot technique.International journal of legal medicine · 2012Article
- Method: a single nucleotide polymorphism genotyping method for Wheat streak mosaic virus.Investigative genetics · 2012Article
- Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer.Oncology letters · 2011Article
- Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.Biological chemistry · 2010Article
- Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.The Journal of molecular diagnostics : JMD · 2010Article
- Identification and genotyping of Mycobacterium tuberculosis complex species by use of a SNaPshot Minisequencing-based assay.Journal of clinical microbiology · 2010Article
- Development of a multiplex primer extension assay for rapid detection of Salmonella isolates of diverse serotypes.Journal of clinical microbiology · 2010Article
- Rapid method for identification of six common species of mycobacteria based on multiplex SNP analysis.Journal of clinical microbiology · 2010Article
- A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene.BMC research notes · 2009Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIt is estimated that 5-10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expensive essentially because their length. Nevertheless, the presence of recurrent and founder mutations allows a pre-screening for the identification of the most frequent mutations found in each geographical region. In Spain, five mutations in BRCA1 and other five in BRCA2 account for approximately 50% of the mutations detected in Spanish families.
methodsWe have developed a novel PCR multiplex SNaPshot reaction that targets all ten recurrent and founder mutations identified in BRCA1 and BRCA2 in Spain to date.
resultsThe SNaPshot reaction was performed on samples previously analyzed by direct sequencing and all mutations were concordant. This strategy permits the analysis of approximately 50% of all mutations observed to be responsible for breast/ovarian cancer in Spanish families using a single reaction per patient sample.
conclusionThe SNaPshot assay developed is sensitive, rapid, with minimum cost per sample and additionally can be automated for high-throughput genotyping. The SNaPshot assay outlined here is not only useful for analysis of Spanish breast/ovarian cancer families, but also e.g. for populations with Spanish ancestry, such as those in Latin America.
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