A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
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چکیده
منابع مشابه
Single-Nucleotide Polymorphism Masking
Microarrays are widely used to evaluate gene expression at the genome scale. However, all too often the importance of data analysis at the level of the individual probe is overlooked. This is a particular problem when trying to detect differences in gene expression levels among genetically unique animals, across inbred animal strains, or among genetically modified animals. Of particular concern...
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Mutations in the gene TP53, which codifies the tumor suppressor protein p53, are found in about 50% of tumors. These mutations can occur not only at somatic level, but also in germline. Pediatric cancer patients, mostly with additional family history of malignancy, should be considered as potential TP53 germline mutation carriers. Germline TP53 mutations and polymorphisms have been widely studi...
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Medulloblastoma, the most common malignant brain tumor in children, occurs with increased frequency in individuals with Fanconi anemia who have biallelic germline mutations in BRCA2. We describe an 8-year-old child who had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT germline mutation. Molecular profiling was consistent with Group 4 medulloblastoma. The ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2002
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200821