Germline Mutations in Predisposition Genes in Pediatric Cancer

A constitutive mutation in a cancer-susceptibility gene can have implications for clinical treatment and genetic counseling of family members. This study involving 1120 children and adolescents showed that 95 (8.5%) had such a mutation. The frequency of germline mutations in cancer-predisposition ge...

Full description

Saved in:
Bibliographic Details
Published in:The New England journal of medicine Vol. 373; no. 24; pp. 2336 - 2346
Main Authors: Zhang, Jinghui, Walsh, Michael F, Wu, Gang, Edmonson, Michael N, Gruber, Tanja A, Easton, John, Hedges, Dale, Ma, Xiaotu, Zhou, Xin, Yergeau, Donald A, Wilkinson, Mark R, Vadodaria, Bhavin, Chen, Xiang, McGee, Rose B, Hines-Dowell, Stacy, Nuccio, Regina, Quinn, Emily, Shurtleff, Sheila A, Rusch, Michael, Patel, Aman, Becksfort, Jared B, Wang, Shuoguo, Weaver, Meaghann S, Ding, Li, Mardis, Elaine R, Wilson, Richard K, Gajjar, Amar, Ellison, David W, Pappo, Alberto S, Pui, Ching-Hon, Nichols, Kim E, Downing, James R
Format: Journal Article
Language:English
Published: United States Massachusetts Medical Society 10.12.2015
Subjects:
Adenomatous polyposis coli
Adolescent
Adolescents
Autism
Autistic Disorder - genetics
BRCA2 protein
Cancer
Child
Children
Children & youth
Computer applications
Data processing
Female
Genes
Genes, Dominant
Genes, Neoplasm
Genetic counseling
Genetic Predisposition to Disease
Genome, Human
Genomes
Germ-Line Mutation
Humans
Male
Mutation
Neoplasms - genetics
Nucleotide sequence
p53 Protein
Pathogenesis
Pathogenicity
Pediatrics
Runx1 protein
SEER Program
Sequence Analysis, DNA - methods
Tumor suppressor genes
Tumorigenesis
Young Adult
ISSN:0028-4793, 1533-4406, 1533-4406
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A constitutive mutation in a cancer-susceptibility gene can have implications for clinical treatment and genetic counseling of family members. This study involving 1120 children and adolescents showed that 95 (8.5%) had such a mutation. The frequency of germline mutations in cancer-predisposition genes in children and adolescents with cancer and the implications of such mutations are largely unknown. Previous studies have relied mainly on candidate-gene approaches, which are, by design, limited. To better determine the contribution of germline predisposition mutations to childhood cancer, we used next-generation sequencing, including whole-genome and whole-exome sequencing, to analyze the genomes of 1120 children and adolescents with cancer. We describe the prevalence and spectrum of germline variants among 565 cancer-associated genes, with an emphasis on the analysis of 60 genes that have been associated with autosomal dominant cancer-predisposition syndromes. We . . .
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa1508054