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- W4286587559 endingPage "3569" @default.
- W4286587559 startingPage "3569" @default.
- W4286587559 abstract "The view of paediatric cancer as a genetic disease arises as genetic research develops. Germline mutations in cancer predisposition genes have been identified in about 10% of children. Paediatric cancers are characterized by heterogeneity in the types of genetic alterations that drive tumourigenesis. Interactions between germline and somatic mutations are a key determinant of cancer development. In 40% of patients, the family history does not predict the presence of inherited cancer predisposition syndromes and many cases go undetected. Paediatricians should be aware of specific symptoms, which highlight the need of evaluation for cancer syndromes. The quickest possible identification of such syndromes is of key importance, due to the possibility of early detection of neoplasms, followed by presymptomatic genetic testing of relatives, implementation of appropriate clinical procedures (e.g., avoiding radiotherapy), prophylactic surgical resection of organs at risk, or searching for donors of hematopoietic stem cells. Targetable driver mutations and corresponding signalling pathways provide a novel precision medicine strategy.Therefore, there is a need for multi-disciplinary cooperation between a paediatrician, an oncologist, a geneticist, and a psychologist during the surveillance of families with an increased cancer risk. This review aimed to emphasize the role of cancer-predisposition gene diagnostics in the genetic surveillance and medical care in paediatric oncology." @default.
- W4286587559 created "2022-07-22" @default.
- W4286587559 creator A5006647428 @default.
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- W4286587559 creator A5022879506 @default.
- W4286587559 creator A5030870747 @default.
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- W4286587559 date "2022-07-22" @default.
- W4286587559 modified "2023-09-25" @default.
- W4286587559 title "Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review" @default.
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