Liquid biopsy can be used as a tool to advance individualized targeted therapy. a) At early stages of diagnosis, various components of liquid biopsy can be utilized for initial screening of breast cancer patients. At the primary steps, different isolation and enrichment methods can be used for each type of the tumor component. Later, analysis of these components can provide insight into the nature of the tumor, such as its unique genetic and epigenetic profile. This will allow clinicians to provide targeted treatment to each patient. b) Subsequent to tumor resection surgery, liquid biopsy can be utilized to monitor the patient for relapse. Due to pre-surgical analysis of the tumor, the known genetic profile of the primary tumor can be used to monitor for signs of recurrence.

Mothers of children with DBMD

We described five Iranian families with autosomal recessive intellectual disability inherited disease-causing variants in EXOSC gene family. This study emphasizes the role of the genes involving in RNA-processing in cognitive disorders. Our patients' phenotype broadened the clinical variety of the EXOSC gene family variations that can affect clinical diagnosis of the patients.

A, Clinical features of the five patients from four families with MRX93 and BRWD3 pathogenic variants. B, massive parallel sequencing and validation of the variants detected in BRWD3.

A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual.