TY - JOUR
T1 - Landscape of germline cancer predisposition mutations testing and management in pediatrics
T2 - Implications for research and clinical care
AU - Shahani, Shilpa A.
AU - Marcotte, Erin L.
N1 - Publisher Copyright:
Copyright © 2022 Shahani and Marcotte.
PY - 2022/9/26
Y1 - 2022/9/26
N2 - As germline genetic testing capacities have improved over the last two decades, increasingly more people are newly diagnosed with germline cancer susceptibility mutations. In the wake of this growth, there remain limitations in both testing strategies and translation of these results into morbidity- and mortality-reducing practices, with pediatric populations remaining especially vulnerable. To face the challenges evoked by an expanding diversity of germline cancer mutations, we can draw upon a model cancer-associated genetic condition for which we have developed a breadth of expertise in managing, Trisomy 21. We can additionally apply advances in other disciplines, such as oncofertility and pharmacogenomics, to enhance care delivery. Herein, we describe the history of germline mutation testing, epidemiology of known germline cancer mutations and their associations with childhood cancer, testing limitations, and future directions for research and clinical care.
AB - As germline genetic testing capacities have improved over the last two decades, increasingly more people are newly diagnosed with germline cancer susceptibility mutations. In the wake of this growth, there remain limitations in both testing strategies and translation of these results into morbidity- and mortality-reducing practices, with pediatric populations remaining especially vulnerable. To face the challenges evoked by an expanding diversity of germline cancer mutations, we can draw upon a model cancer-associated genetic condition for which we have developed a breadth of expertise in managing, Trisomy 21. We can additionally apply advances in other disciplines, such as oncofertility and pharmacogenomics, to enhance care delivery. Herein, we describe the history of germline mutation testing, epidemiology of known germline cancer mutations and their associations with childhood cancer, testing limitations, and future directions for research and clinical care.
KW - cancer predisposition
KW - cancer syndrome
KW - childhood cancer
KW - genetic testing
KW - germline predisposition
UR - http://www.scopus.com/inward/record.url?scp=85139512777&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85139512777&partnerID=8YFLogxK
U2 - 10.3389/fped.2022.1011873
DO - 10.3389/fped.2022.1011873
M3 - Review article
C2 - 36225340
AN - SCOPUS:85139512777
SN - 2296-2360
VL - 10
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
M1 - 1011873
ER -