ArticlePloS one2013
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Clinicopathologic characteristics of brain tumors are associated with the presence and patterns of TP53 mutations: evidence from the IARC TP53 Database.Neuromolecular medicine · 2014Pooled it
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- Cell-free DNA analysis in healthy individuals by next-generation sequencing: a proof of concept and technical validation study.Cell death & disease · 2019Article
- Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts.BMC medical genetics · 2019Article
- Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk.Journal of genetic counseling · 2018Article
- The PiGeOn project: protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer.BMC cancer · 2018Article
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- TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.Familial cancer · 2018Article
- Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.NPJ genomic medicine · 2018Article
- Germline genetic variants in men with prostate cancer and one or more additional cancers.Cancer · 2017Article
- A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.Familial cancer · 2017Article
- Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas.Scientific reports · 2017Article
- EstimatingCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2017Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sarcomas are a key feature of Li-Fraumeni and related syndromes (LFS/LFL), associated with germline TP53 mutations. Current penetrance estimates for TP53 mutations are subject to significant ascertainment bias. The International Sarcoma Kindred Study is a clinic-based, prospective cohort of adult-onset sarcoma cases, without regard to family history. The entire cohort was screened for mutations in TP53 using high-resolution melting analysis and Sanger sequencing, and multiplex-ligation-dependent probe amplification and targeted massively parallel sequencing for copy number changes. Pathogenic TP53 mutations were detected in blood DNA of 20/559 sarcoma probands (3.6%); 17 were germline and 3 appeared to be somatically acquired. Of the germline carriers, one appeared to be mosaic, detectable in the tumor and blood, but not epithelial tissues. Germline mutation carriers were more likely to have multiple cancers (47% vs 15% for non-carriers, P = 3.0×10(-3)), and earlier cancer onset (33 vs 48 years, P = 1.19×10(-3)). The median survival of mutation carriers following first cancer diagnosis was not significantly different from non-carriers. Only 10/17 (59%) pedigrees met classical or Chompret criteria for LFS. In summary, germline TP53 mutations are not rare in adult patients with sarcoma, with implications for screening, surveillance, treatment and genetic counselling of carriers and family members.
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