BRCA1 and BRCA2: the mutational spectrum

Thousands of sequence variants have been so far identified in the BRCA1 and BRCA2 genes through the analysis of breast cancer families and population-based case studies. A total of 1,639 different mutations and polymorphisms are reported in the BRCA1 gene by the Breast Cancer Information Core (BIC) 2010 database, whereas the same database reports 1,853 unique mutations and […]

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BRCA1, BRCA2 and their products

BRCA1, BRCA2 and their products Both BRCA1 and BRCA2 are involved in maintenance of genome stability, as they are crucial for the process of DNA repair by homologous recombination (HRR), which is considered to be a conservative form of DNA repair, largely involved in repairing DNA lesions that stall DNA replication forks and/or cause DNA […]

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Current methods for BRCA1/BRCA2 molecular analysis

Current Methods for BRCA1/BRCA2 molecular analysis BRCA testing is commonly performed by direct Sanger sequencing. This method is considered the ‘gold standard’ of DNA sequencing. It is technologically reliable, widely available, and has a relatively simple workflow. The drawbacks of Sanger sequencing are: • limited throughput • lower cost-effectiveness compared to next-generation sequencing (NGS) • […]

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