2022
DOI: 10.22541/au.164878743.32929207/v1
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RB1 Gene Mutations and Genetic Spectrum in Retinoblastoma Cases

Abstract: The aim of the study was to investigate the frequency and types of mutations on the RB1 gene at the familial, clinical, and ethnic levels which are known to have an important role in the genetics of retinoblastoma in Turkish population. RB1 gene mutation analysis was performed in 219 people (122 probands, 14 family members with retinoblastoma and 83 clinically healthy family members) in total. All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both t… Show more

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“…When stimulated by mitogenic signals, cyclin-dependent kinases (CDKs) hyperphosphorylate pRB, releasing its repression and facilitating the transition from G1 to S phase (Figure 1). The absence of pRB, but also several modifications impairing its function, for instance mutations, deletions, or promoter methylation, may result in the alleviation of this repression even in the absence of mitogenic signals, allowing cells to enter the cell cycle [5,6]. Based on the canonical model of negative regulation of E2F transcription factor by pRB, it is tempting to speculate that loss of pRB function would be a primary reason for retinoblastoma development [7,8].…”
Section: Introduction To Retinoblastomamentioning
confidence: 99%
“…When stimulated by mitogenic signals, cyclin-dependent kinases (CDKs) hyperphosphorylate pRB, releasing its repression and facilitating the transition from G1 to S phase (Figure 1). The absence of pRB, but also several modifications impairing its function, for instance mutations, deletions, or promoter methylation, may result in the alleviation of this repression even in the absence of mitogenic signals, allowing cells to enter the cell cycle [5,6]. Based on the canonical model of negative regulation of E2F transcription factor by pRB, it is tempting to speculate that loss of pRB function would be a primary reason for retinoblastoma development [7,8].…”
Section: Introduction To Retinoblastomamentioning
confidence: 99%