A. Salir^{* *}Correspondence: A. Salir, Department of Pediatric Oncology, Ankara Oncology Hospital, Ankara, Turkey, Email:

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1. Description

About 90% of all new cancer diagnoses are caused by somatic de novo mutations, and the other 10% are brought on by inherited genetic characteristics. In the latter group, people who have germ line mutations are more likely to experience potentially fatal malignancies, frequently at a very young age. Our understanding of cancer biology has greatly benefited from the research of cancer genetics, which has helped characterise malignancies better, develop targeted medicines, and identify people who are more likely to get cancer. The primary underlying gene mutations, examples of cancer syndromes in children, adolescents, and young adults, and the use of genetic testing to detect gene mutation carriers will all be covered in this study.

Up to 10% of all cancer cases are hereditary, with hereditary non-polyposis colon cancer and hereditary breast-ovarian cancer syndrome being the most well-known examples. These tumours show the existence of a gene mutation that increases the risk of cancer when they develop in families more frequently than would be anticipated by chance, frequently at an unusually young age. Many altered genes are known to be responsible for various cancer disorders.

Mutations in other cancer-predisposition genes can result in cancer diagnoses at even younger ages compared to those tumour suppressor and DNA repair genes altered in hereditary breast ovarian cancer and hereditary non-polyposis colon cancer syndrome. In the past 30 years, 114 genes associated with a higher risk of developing cancer have been identified, according to a recent study by Rahman. It’s interesting to note that 16 of these can lead to both autosomal dominant and recessive diseases, with a recessive inheritance pattern for a subset of these genes being linked to a high risk of childhood cancer. In the sections that follow, eight instances of cancer syndromes that result in paediatric tumours will be discussed. Retinoblastoma, Li- Fraumeni syndrome, DICER1 syndrome, and neurofibromatosis are four examples of dominant inheritance patterns, along with one RAS mosaic disorder and down syndrome. The first two, Fanconi anaemia and Xeroderma pigmentosum, have a recessive pattern of heredity.

Genetic predisposition must be considered if a child has two or more synchronous or metachronous tumours. It’s crucial to note in this regard that youngsters who appear to be experiencing a relapse of their initial malignancy may actually be dealing with a second primary malignancy that is quite similar to the initial illness.

Consecutive malignancies might have a treatment related origin rather than being the consequence of genetic predisposition, or they can be caused by a combination of both, which complicates matters for individuals who have several consecutive neoplasms. This may happen more frequently as a result of the fact that children cancer therapy has advanced significantly over the past few decades, creating a sizable and expanding number of long term survivors. Acute leukaemia and myelodysplastic syndrome following chemotherapy, as well as solid tumours connected to radiotherapy, are the two main kinds of secondary treatment related malignancies. Susceptibility to breast cancer in women receiving chest radiation therapy for childhood Hodgkin lymphoma is an illustration of the latter type. Thyroid malignancies, brain tumours, and sarcomas are a few additional wellknown solid malignant neoplasms that can be caused by radiation. Since most children get numerous agents, it is more challenging to define the specific function of each chemotherapeutic agent. Topoisomerase II inhibitors and alkylating drugs have been demonstrated to clearly be associated with the emergence of secondary acute myeloid leukaemia. The real risk of acquiring a subsequent malignancy is significantly influenced by the cumulative dose of these drugs.