Amino acid codes (symbols)

Amino acids codes (symbols) are listed below (1 and 3 letters codes). Approved nomenclature for reports is the 3 letters code: Amino acid Code (1 letter) Code (3 letters) (official) Alanine A Ala Arginine R Arg Asparagine N Asn Aspartic Acid D Asp Cysteine C Cys Glutamic Acid E Glu Glutamine Q Gln Glicine G […]

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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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