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Last Posted: Jul 28, 2023

• Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
  C. Shroeder et al, EJHG, July 28, 2023
• Automatic retinoblastoma screening and surveillance using deep learning.
  Ruiheng Zhang et al. Br J Cancer 2023
• Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer.
  Aleix Prat et al. Nature communications 2023 14(1) 1157
• A Multi-Thresholding-Based Discriminative Neural Classifier for Detection of Retinoblastoma Using CNN Models.
  Parmod Kumar et al. BioMed research international 2023 20235803661
• Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
  Jette J Bakhuizen et al. JAMA network open 2023 6(2) e2254157
• Landscape of RB1 alterations in 22,432 Chinese solid tumor patients.
  Xu Guanghui et al. Annals of translational medicine 2022 10(16) 885
• Immune Checkpoint Blockade Outcome in Small-Cell Lung Cancer and Its Relationship With Retinoblastoma Mutation Status and Function.
  Dowlati Afshin et al. JCO precision oncology 2022 6e2200257
• Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
  Escudero Adela et al. International journal of clinical oncology 2022
• Next-generation Sequencing of Cerebrospinal Fluid for Clinical Molecular Diagnostics in Pediatric, Adolescent and Young Adult (AYA) Brain Tumor Patients.
  Miller Alexandra M et al. Neuro-oncology 2022
• Clinical Utility of CDK4/6 Inhibitors in Sarcoma: Successes and Future Challenges.
  Hsu Jocelyn Y et al. JCO precision oncology 2022 6e2100211
• Monitoring Retinoblastoma by Machine Learning of Aqueous Humor Metabolic Fingerprinting.
  Liu Wanshan et al. Small methods 2022 6(1) e2101220
• Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
  Watson Christopher M et al. Prenatal diagnosis 2022
• Parental age and retinoblastoma-a retrospective study of demographic data and genetic analysis.
  Tanwar Meghana et al. Eye (London, England) 2021
• How the germline informs the somatic landscape.
  Chanock Stephen J et al. Nature genetics 2021 11 (11) 1523-1525
• Retinoblastoma genetics screening and clinical management.
  Gupta Himika et al. BMC medical genomics 2021 14(1) 188
• Genetic predisposition to fetal and neonatal cancer.
  Escudero A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2021 Jan
• A review of inherited cancer susceptibility syndromes.
  Brown Gina R et al. JAAPA : official journal of the American Academy of Physician Assistants 2020 Dec 33(12) 10-16
• Clinical features and survival of Chinese children with trilateral retinoblastoma during 2006-2019: A retrospective multicenter study.
  Fang Xiaolian et al. American journal of ophthalmology 2020 Oct
• Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.
  Fabian Ido Didi et al. The British journal of ophthalmology 2020 Sep
• Preimplantation genetic diagnosis for retinoblastoma survivors: a cost-effectiveness study.
  Schofield D et al. Reproductive biomedicine & society online 2020 Jun 1037-45
• Parent Knowledge of Screening and Genetic Testing in Retinoblastoma.
  Xiao Wei et al. Journal of ophthalmology 2020 20203839792
• Genetic testing for inherited ocular conditions in a developing country.
  Zanolli Mario et al. Ophthalmic genetics 2020 Mar 1-5
• Next-Generation Technologies and Strategies for the Management of Retinoblastoma.
  Gudiseva Harini V et al. Genes 2019 Dec 10(12)
• [Promoting regulated gene diagnosis for retinoblastoma in clinical work].
  Liang J H et al. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2019 Nov 55(11) 806-810
• Molecular targeted therapy of glioblastoma.
  Le Rhun Emilie et al. Cancer treatment reviews 2019 Sep 80101896
• A gene expression signature of Retinoblastoma loss-of-function predicts resistance to neoadjuvant chemotherapy in ER-positive/HER2-positive breast cancer patients.
  Risi Emanuela et al. Breast cancer research and treatment 2018 Jul 170(2) 329-341
• Clinical utility of fulvestrant in the treatment of breast cancer: a report on the emerging clinical evidence.
  Rocca Andrea et al. Cancer management and research 2018 103083-3099
• Local Coverage Determination (LCD): Biomarker Testing for Neuroendocrine Tumors/Neoplasms (L37851)
  The U.S. Centers for Medicare & Medicaid Services
• Would Routine Genomic Testing For Cancer And Heart Risk Make Economic Sense?
  A Weintraub, Forbes, July 30, 2018
• CLINGEN Actionability Report for Retinoblastoma-RB1
  ClinGen Actionability Working Group
• Detection and reporting of RB1 promoter hypermethylation in diagnostic screening.
  Price Elizabeth A et al. Ophthalmic genetics 2018 May 1-6
• Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
  Richer Julie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
• Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
  Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7
• Should You Get Genetic Testing for Cancer Risk?
  American Cancer Society, Apr 3, 2018
• Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents.
  Hill Jessica A et al. European journal of human genetics : EJHG 2018 Jan
• Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing.
  Berry Jesse L et al. Ophthalmic genetics 2017 Dec 1-3
• "Where Does it Come from?" Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya.
  Gedleh Amal et al. Journal of genetic counseling 2017 Nov
• Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists.
  Skalet Alison H et al. Ophthalmology 2017 Oct
• Genetic Testing in Pediatric Ophthalmology.
  Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct
• A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
  Li Wenhui L et al. The Journal of molecular diagnostics : JMD 2016 Jul 18(4) 480-93
• Patient understanding of genetic information influences reproductive decision making in retinoblastoma.
  Foster A et al. Clinical genetics 2017 Apr
• Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome.
  Al-Nawaiseh Ibrahim et al. Journal of ophthalmology 2017 20175053961
• Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
  Dommering Charlotte J et al. Familial cancer 2016 Nov
• Prenatal versus Postnatal Screening for Familial Retinoblastoma.
  Soliman Sameh E et al. Ophthalmology 2016 Oct
• Knowledge of genetics in familial retinoblastoma.
  Soliman Sameh E et al. Ophthalmic genetics 2016 Jul 1-7
• Retinoblastoma
  H Dimaras et al, Nature Reviews Disease Primers, August 28, 2015
• The Biology of Retinoblastoma.
  Mendoza Pia R et al. Prog Mol Biol Transl Sci 2015 503-16
• About 1 out of 3 retinoblastomas is caused by a mutation (change) in the RB1 gene that is present in all the cells of the child's body.
  from the American Cancer Society
• Retinoblastoma Treatment - for health professionals (PDQ®)
  from the National Cancer Institute
• A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.
  Thirumalairaj Kannan et al. J. Hum. Genet. 2015 Jun 18.
• Check out genetic conditions and tests associated with retinoblastoma
  from the NIH Genetic Testing Registry
• Genetic screening in patients with Retinoblastoma in Israel.
  Sagi Michal et al. Fam. Cancer 2015 Mar 10.
• Genetics and epigenetics of human retinoblastoma.
  Benavente Claudia A et al. Annu Rev Pathol 2015 547-62
• Management of retinoblastoma: opportunities and challenges.
  Bhavsar Dhiraj et al. Drug Deliv 2015 Mar 11. 1-9
• Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
  Amitrano Sara et al. Eur. J. Hum. Genet. 2015 Feb 25.
• Retinoblastoma genetics in India: From research to implementation.
  Dimaras Helen et al. Indian J Ophthalmol 2015 Mar (3) 219-26
• Retinoblastoma is a rare cancer that begins in the retina of the eye
  From the National Cancer Institute
• Retinoblastoma: diagnosis and management- the UK perspective.
  Jenkinson Helen et al. Arch. Dis. Child. 2015 May 4.
• Risk definition and management strategies in retinoblastoma: current perspectives.
  Ghassemi Fariba et al. Clin Ophthalmol 2015 985-94
• The RB tumor suppressor at the intersection of proliferation and immunity: Relevance to disease immune evasion and immunotherapy.
  Hutcheson Jack et al. Cell Cycle 2015 Feb 25. 0

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