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AuthorLinga, Bala Subramani Gattu
AuthorMohammed, Sawsan G.A.A.
AuthorFarrell, Thomas
AuthorRifai, Hilal Al
AuthorAl-Dewik, Nader
AuthorQoronfleh, M. Walid
Available date2024-06-24T07:02:56Z
Publication Date2024-06-01
Publication NameCancers
Identifierhttp://dx.doi.org/10.3390/cancers16112017
CitationLinga, B.G.; Mohammed, S.G.A.A.; Farrell, T.; Rifai, H.A.; Al-Dewik, N.; Qoronfleh, M.W. Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach. Cancers 2024, 16, 2017. https://doi.org/10.3390/cancers16112017
URIhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85195658106&origin=inward
URIhttp://hdl.handle.net/10576/56184
AbstractAs next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are a group of germline genetic disorders that have been identified as risk factors for pediatric cancer development. Excluding a few “classic” CPSs, there is no agreement regarding when and how to conduct germline genetic diagnostic studies in children with cancer due to the constant evolution of knowledge in NGS technologies. Various clinical screening tools have been suggested to aid in the identification of individuals who are at greater risk, using diverse strategies and with varied outcomes. We present here an overview of the primary clinical and molecular characteristics of various CPSs and summarize the existing clinical genomics data on the prevalence of CPSs in pediatric cancer patients. Additionally, we discuss several ethical issues, challenges, limitations, cost-effectiveness, and integration of genomic newborn screening for CPSs into a healthcare system. Furthermore, we assess the effectiveness of commonly utilized decision-support tools in identifying patients who may benefit from genetic counseling and/or direct genetic testing. This investigation highlights a tailored and systematic approach utilizing medical newborn screening tools such as the genome sequencing of high-risk newborns for CPSs, which could be a practical and cost-effective strategy in pediatric cancer care.
Languageen
PublisherMDPI
Subjectcancer genetics
cancer predisposition syndromes
gene panel
genetic predisposition
newborn screening
NGS
pediatric cancer
TitleGenomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach
TypeArticle Review
Issue Number11
Volume Number16
ESSN2072-6694
dc.accessType Open Access


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