ArticleJAMA2011
Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Article in JAMA, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
79 citing papers in PubMed, 2 syntheses or guidelines pooled it, 153 citations in OpenAlex.
- Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.Medicine · 2019Pooled it
- A novel TP53 variant (rs78378222 A > C) in the polyadenylation signal is associated with increased cancer susceptibility: evidence from a meta-analysis.Oncotarget · 2016Pooled it
- Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.British journal of haematology · 2023Article
- Genetic Predisposition to Hematologic Malignancies in Childhood and Adolescence.Mediterranean journal of hematology and infectious diseases · 2023Review
- Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.Current hematologic malignancy reports · 2022Review
- Therapy-related myeloid neoplasms with different latencies: a detailed clinicopathologic analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Article
- Advances in germline predisposition to acute leukaemias and myeloid neoplasms.Nature reviews. Cancer · 2021Review
- Cytotoxic Therapy-Induced Effects on Both Hematopoietic and Marrow Stromal Cells Promotes Therapy-Related Myeloid Neoplasms.Blood cancer discovery · 2020Article
- Genetic Hierarchy of Acute Myeloid Leukemia: From Clonal Hematopoiesis to Molecular Residual Disease.International journal of molecular sciences · 2018Review
- Allogeneic Hematopoietic Stem Cell Transplantation In Therapy-Related Myeloid Neoplasms (t-MN) of the Adult: Monocentric Observational Study and Review of the Literature.Mediterranean journal of hematology and infectious diseases · 2018Article
- Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.European journal of human genetics : EJHG · 2017Article
- Review
- Therapy-related myeloid neoplasms: when genetics and environment collide.Nature reviews. Cancer · 2017Review
- Somatic and GermlineClinical cancer research : an official journal of the American Association for Cancer Research · 2017Article
- Article
- Identifying fusion transcripts using next generation sequencing.Wiley interdisciplinary reviews. RNA · 2016Review
- Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.Medicine · 2016Article
- Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Medical implications of technical accuracy in genome sequencing.Genome medicine · 2016Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
32 authors at 1 institution in 1 country.
Funding
Abstract
contextThe identification of patients with inherited cancer susceptibility syndromes facilitates early diagnosis, prevention, and treatment. However, in many cases of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is unrevealing.
objectiveTo apply whole-genome sequencing to a patient without any significant family history of cancer but with suspected increased cancer susceptibility because of multiple primary tumors to identify rare or novel germline variants in cancer susceptibility genes. DESIGN, SETTING, AND PARTICIPANT: Skin (normal) and bone marrow (leukemia) DNA were obtained from a patient with early-onset breast and ovarian cancer (negative for BRCA1 and BRCA2 mutations) and therapy-related acute myeloid leukemia (t-AML) and analyzed with the following: whole-genome sequencing using paired-end reads, single-nucleotide polymorphism (SNP) genotyping, RNA expression profiling, and spectral karyotyping.
main outcome measuresStructural variants, copy number alterations, single-nucleotide variants, and small insertions and deletions (indels) were detected and validated using the described platforms. RESULTS; Whole-genome sequencing revealed a novel, heterozygous 3-kilobase deletion removing exons 7-9 of TP53 in the patient's normal skin DNA, which was homozygous in the leukemia DNA as a result of uniparental disomy. In addition, a total of 28 validated somatic single-nucleotide variations or indels in coding genes, 8 somatic structural variants, and 12 somatic copy number alterations were detected in the patient's leukemia genome.
conclusionWhole-genome sequencing can identify novel, cryptic variants in cancer susceptibility genes in addition to providing unbiased information on the spectrum of mutations in a cancer genome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.