Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma

Mendonça, Vanessa; Sena, Priscila Pereira; Santos, Anna Cláudia Evangelista dos; Bonvicino, Cibele Rodrigues; Ashton‐Prolla, Patrícia; Epelman, Sidnei; Ferman, Sima; Lapunzina, Pablo; Nevado, Julián; Grigorovski, Nathalia; Mattosinho, Clarissa; Seuánez, Héctor N.; Vargas, Fernando

doi:10.1016/j.exer.2022.109211

Cited by 1 publication

(1 citation statement)

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“…Retinoblastoma (Rb), the most frequently occurring malignant intraocular tumor in childhood, is caused by mutations in the Rb gene located on chromosome 13q14.2 [1]. The disease has an incidence of one in 15,000–20,000 live births and is characterized by sex-differential survival, with an excess risk of mortality identified among males relative to females [2].…”

Section: Introductionmentioning

confidence: 99%

Emerging Role of Circular RNAs in the Pathogenesis of Retinoblastoma

Wu,

Zhang,

Yang

2023

Ophthalmic Res

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Retinoblastoma accounts for 3% of all childhood cancers. It is the most common intraocular malignant tumor with a highly aggressive and metastatic phenotype. Understanding the molecular mechanisms participating in these processes would facilitate the design of therapeutic modalities and identification of novel tumor markers. Recent investigations have shown contributions of circular RNAs (circRNAs) in the evolution of retinoblastoma (Rb). Several circRNAs, including circ_0000034, circ_0000527, circ_0075804, circ_0099198, circFAM158A, and circVAPA, promote the progression and metastasis of retinoblastoma. However, some circRNAs, such as circ_0001649, circMKLN1, and circTET1, play a tumor suppressive role. In this regard, circRNAs can regulate cancer-developing processes including cell proliferation, apoptosis, migration, invasion, and tumor growth. This review summarizes the functional roles of circRNAs in retinoblastoma and their potential clinical applications for diagnosis and prognosis, and provides a comprehensive understanding of the role of circRNAs in the pathophysiology of Rb.

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Section: Introductionmentioning

confidence: 99%