ArticleBMC cancer2013
Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.
Article in BMC cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and ChildhoodHemaSphere · 2022Article
- Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer.Molecular therapy. Methods & clinical development · 2021Article
- Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: three case reports and literature reviews.Orphanet journal of rare diseases · 2021Review
- Whole-Exome Sequencing of ETV6/RUNX1 in Four Childhood Acute Lymphoblastic Leukaemia CasesAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Big insights from small volumes: deciphering complex leukocyte behaviors using microfluidics.Journal of leukocyte biology · 2016Review
- The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.Nature genetics · 2015Article
- Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report.Leukemia · 2014Article
- An improved understanding of cancer genomics through massively parallel sequencing.Translational cancer research · 2014Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundAcute lymphoblastic leukemia (ALL) diagnosed within the first month of life is classified as congenital ALL and has a significantly worse outcome than ALL diagnosed in older children. This suggests that congenital ALL is a biologically different disease, and thus may be caused by a distinct set of mutations. To understand the somatic and germline mutations contributing to congenital ALL, the protein-coding regions in the genome were captured and whole-exome sequencing was employed for the identification of single-nucleotide variants and small insertion and deletions in the germlines as well as the primary tumors of four patients with congenital ALL.
methodsExome sequencing was performed on Illumina GAIIx or HiSeq 2000 (Illumina, San Diego, California). Reads were aligned to the human reference genome and the Genome Analysis Toolkit was used for variant calling. An in-house developed Ensembl-based variant annotator was used to richly annotate each variant.
resultsThere were 1-3 somatic, protein-damaging mutations per ALL, including a novel mutation in Sonic Hedgehog. Additionally, there were many germline mutations in genes known to be associated with cancer predisposition, as well as genes involved in DNA repair.
conclusionThis study is the first to comprehensively characterize the germline and somatic mutational profile of all protein-coding genes patients with congenital ALL. These findings identify potentially important therapeutic targets, as well as insight into possible cancer predisposition genes.
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