Retinoblastoma is the most common eye cancer in children. It is caused by pathogenic alterations of both alleles of the tumor suppressor gene RB1. In heritable retinoblastoma, a constitutional RB1 variant predisposes the cells to tumor formation, and loss of the other allele is a prerequisite for the development of retinoblastoma.
View Article and Find Full Text PDFOcular tumours may arise from various tissues and therefore present as a heterogeneous group of diseases with unspecific symptoms. Some of the tumours carry a high mortality with a life expectancy less than 50% after ten years. Early diagnosis and treatment are essential for a good outcome, and centralization has led to a decreased morbidity and increased survival in Denmark.
View Article and Find Full Text PDFDespite reporting an overall normal life, survivors of heritable retinoblastoma face numerous physical and psychosocial issues. In particular, reproductive decision-making is often complex and difficult. This study aims to examine survivors' reflections on passing on heritable retinoblastoma to their children, how survivors approach their reproductive choices, and how the healthcare system can optimize counseling and support.
View Article and Find Full Text PDFBackground: Survivors with heritable retinoblastoma (RB) face a high risk for second primary cancer and RB in their children. Knowledge of heredity can support second cancer surveillance, convey reproductive options or early diagnosis of RB in their offspring. Currently, all newly diagnosed Danish patients with RB are offered genetic testing, as opposed to a minority of survivors diagnosed before available DNA testing.
View Article and Find Full Text PDF