Genetic screening in Iranian patients with retinoblastoma
Sign Up to like & getrecommendations! Published in 2017 at "Eye"
DOI: 10.1038/eye.2016.289
Abstract: PurposeThe most common intraocular tumor in childhood, retinoblastoma, is largely associated with mutations in the RB1 gene. In the most comprehensive RB1 screening in Iran, we evaluated the RB1 mutations in 106 patients with retinoblastoma,… read more here.
Keywords: genetic screening; retinoblastoma; iranian patients; patients retinoblastoma ... See more keywords
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2020.1799417
Abstract: ABSTRACT Background Detection of germline RB1 mutations is critical for risk assessment of retinoblastoma (RB) patients. Assessment of somatic copy number alterations (SCNAs) is also critically important because of their prognostic significance. Herein we present… read more here.
Keywords: copy number; simultaneous identification; rb1; rb1 mutations ... See more keywords
Polyclonal RB1 mutations and acquired resistance to CDK 4/6 inhibitors in patients with metastatic breast cancer
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DOI: 10.1093/annonc/mdx784
Abstract: Background While deregulation of the cyclin D1-CDK4/6-retinoblastoma pathway is common in hormone receptor positive (HR+) breast cancer, Rb is usually intact in HR+ breast cancer, and targeted CDK 4/6 inhibitors that act upstream of Rb, are… read more here.
Keywords: cdk inhibitors; cdk; breast cancer; rb1 ... See more keywords
ATM/RB1 mutations predict shorter overall survival in urothelial cancer
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DOI: 10.18632/oncotarget.24738
Abstract: Background Mutations of DNA repair genes, e.g. ATM/RB1, are frequently found in urothelial cancer (UC) and have been associated with better response to cisplatin-based chemotherapy. Further external validation of the prognostic value of ATM/RB1 mutations… read more here.
Keywords: cancer; rb1 mutations; atm rb1; mutation ... See more keywords