Fragile X intermediate alleles: do they impact the reproductive risk?

Summary Fragile X syndrome is an inherited disorder caused by a CGG repeat expansion in the FMR1 gene. The syndrome is characterized by mild-to-severe mental retardation, which may be associated with behavioural disturbances and typical physical signs. As being X-linked, the syndrome shows its typical manifestations in males, although some females may be mildly symptomatic. The syndrome is […]

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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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