Ontology highlight
ABSTRACT: Purpose
To estimate the absolute number of adult survivors of childhood cancer in the U.S. population who carry a pathogenic or likely pathogenic variant in a cancer predisposition gene.Methods
Using the Surveillance, Epidemiology, and End Results (SEER) Program, we estimated the number of childhood cancer survivors on December 31, 2016 for each childhood cancer diagnosis, multiplied this by the proportion of carriers of pathogenic/likely pathogenic variants in the St. Jude Lifetime Cohort (SJLIFE) study, and projected the resulting number onto the U.S.Population
Results
Based on genome sequence data, 11.8% of 2450 SJLIFE participants carry a pathogenic/likely pathogenic variant in one of 156 cancer predisposition genes. Given this information, we estimate that 21 800 adult survivors of childhood cancer in the United States carry a pathogenic/likely pathogenic variant in one of these genes. The highest estimated absolute number of variant carriers are among survivors of central nervous system tumors (n = 4300), particularly astrocytoma (n = 1800) and other gliomas (n = 1700), acute lymphoblastic leukemia (n = 4300), and retinoblastoma (n = 3500). The most frequently mutated genes are RB1 (n = 3000), NF1 (n = 2300), and BRCA2 (n = 800).Conclusion
Given the increasing number of childhood cancer survivors in the United States, clinicians should counsel survivors regarding their potential genetic risk, consider referral for genetic counseling and testing, and, as appropriate, implement syndrome-specific cancer surveillance or risk-reducing measures.
SUBMITTER: Wilson CL
PROVIDER: S-EPMC7065721 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Wilson Carmen L CL Wang Zhaoming Z Liu Qi Q Ehrhardt Matthew J MJ Mostafavi Roya R Easton John J Mulder Heather H Hedges Dale J DJ Wang Shuoguo S Rusch Michael M Edmonson Michael M Levy Shawn S Lanctot Jennifer Q JQ Currie Kelsey K Lear Matthew M Patel Aman A Sapkota Yadav Y Brooke Russell J RJ Moon Wonjong W Chang Ti-Cheng TC Chen Wenan W Kesserwan Chimene A CA Wu Gang G Nichols Kim E KE Hudson Melissa M MM Zhang Jinghui J Robison Leslie L LL Yasui Yutaka Y
Pediatric blood & cancer 20191117 2
<h4>Purpose</h4>To estimate the absolute number of adult survivors of childhood cancer in the U.S. population who carry a pathogenic or likely pathogenic variant in a cancer predisposition gene.<h4>Methods</h4>Using the Surveillance, Epidemiology, and End Results (SEER) Program, we estimated the number of childhood cancer survivors on December 31, 2016 for each childhood cancer diagnosis, multiplied this by the proportion of carriers of pathogenic/likely pathogenic variants in the St. Jude Lifet ...[more]