Parental age and retinoblastoma—a retrospective study of demographic data and genetic analysis

Autor: Sekaran Balaji, Meghana Tanwar, Usha Kim, Ayyasamy Vanniarajan, Gunja Chowdhury
Rok vydání: 2021
Předmět:
Zdroj: Eye (Lond)
ISSN: 1476-5454
0950-222X
Popis: Upon completion of this activity, participants will be able to: In support of improving patient care, this activity has been planned and implemented by Medscape, LLC and Springer Nature. Medscape, LLC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Medscape, LLC designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. All other clinicians completing this activity will be issued a certificate of participation. To participate in this journal CME activity: (1) review the learning objectives and author disclosures; (2) study the education content; (3) take the post-test with a 75% minimum passing score and complete the evaluation at www.medscape.org/journal/eye ; (4) view/print certificate. 1.0 Release date: Expiration date: Post-test link: https://medscape.org/eye/posttest957229 Sobha Sivaprasad, MD, has disclosed the following relevant financial relationships: Served as an advisor or consultant for: Allergan, Inc.; Apellis; Bayer AG; Boehringer Ingelheim Pharmaceuticals, Inc.; Heidelberg Pharma GmbH; Novartis Pharmaceuticals Corporation; Oculis; Optos; Oxurion; Roche. Served as a speaker or a member of a speakers bureau for: Allergan, Inc.; Bayer AG; Novartis Pharmaceuticals Corporation; Optos. Received grants for clinical research from: Allergan, Inc.; Bayer AG; Boehringer Ingelheim Pharmaceuticals, Inc.; Novartis Pharmaceuticals Corporation; Optos. Meghana Tanwar, DNB, FRCS, has disclosed no relevant financial relationships. Sekaran Balaji, BSc, MSc, has disclosed no relevant financial relationships. Ayyasamy Vanniarajan, MSc, PhD, has disclosed no relevant financial relationships. Usha Kim, DO, DNB, has disclosed no relevant financial relationships. Gunja Chowdhury, DO, DNB, has disclosed no relevant financial relationships. Laurie Barclay, MD, has disclosed no relevant financial relationships. To determine the association between the parental age gap and the absolute parental age with the risk of retinoblastoma (RB) development in an offspring. RB individuals diagnosed between March 2013 and December 2019 in a single tertiary eye care centre were included. We recorded the demographic data, parental age and RB1 gene mutation status in the patient’s tumour, blood and the parental blood. We categorised RB1 mutation inheritance as sporadic RB with somatic mutations (only present in tumour), heritable RB with de novo (present in patient’s blood) and familial (present in patient and parents’ blood) germline mutations. The statistical significance was confirmed by Fisher’s exact/Chi-square test. Out of 259 RB patients, 247 were included in our study. Heritable RB with de novo germline mutations was significantly less common (p value: 0.0387; 95% CI: 0.2676–0.9329) and sporadic RB with somatic mutations was more common (p value: 0.0545; 95% CI: 1.025–3.39), if the parental age gap was
Databáze: OpenAIRE
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