ArticleCarcinogenesis2014
Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.
Article in Carcinogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02289326 (Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting), which is not on this map. Cited by 22 papers.
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.
Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting
Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- The role of RNA binding proteins in cancer biology: A focus on FMRP.Genes & diseases · 2025Review
- Exploring the genetic and molecular basis of differences in multiple myeloma of individuals of African and European descent.Cell death and differentiation · 2024Review
- Analysis of Nucleotide Variations in Human G-Quadruplex Forming Regions Associated with Disease States.Genes · 2023Article
- Investigation of Genetic Factors and Clinical Data in Breast Cancer Highlights the Importance of Breastfeeding and Cancer History.Current issues in molecular biology · 2023Article
- Polymorphism and Ligand Binding Modulate Fast Dynamics of Human Telomeric G-Quadruplexes.International journal of molecular sciences · 2023Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Review: Ewing Sarcoma Predisposition.Pathology oncology research : POR · 2020Review
- Li-Fraumeni syndrome heterogeneity.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- Review
- Germline mutation ofScience advances · 2020Article
- Discussion of some 'knowns' and some 'unknowns' about the tumour suppressor p53.Journal of molecular cell biology · 2019Article
- Calibrating cancer risk, uncertainty and environments: Genetics and their contexts in southern Brazil.BioSocieties · 2018Article
- Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.Scientific reports · 2018Article
- Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.NPJ genomic medicine · 2018Article
- Novel splicing in IGFN1 intron 15 and role of stable G-quadruplex in the regulation of splicing in renal cell carcinoma.PloS one · 2018Article
- RNA G-quadruplexes: emerging mechanisms in disease.Nucleic acids research · 2017Article
- The Inherited p53 Mutation in the Brazilian Population.Cold Spring Harbor perspectives in medicine · 2016Review
- Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.Annals of laboratory medicine · 2016Article
- Impact of G-quadruplex structures and intronic polymorphisms rs17878362 and rs1642785 on basal and ionizing radiation-induced expression of alternative p53 transcripts.Carcinogenesis · 2014Article
- Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 10 institutions in 4 countries.
Funding
Abstract
Germline TP53 mutations predispose to multiple cancers defining Li-Fraumeni/Li-Fraumeni-like syndrome (LFS/LFL), a disease with large individual disparities in cancer profiles and age of onset. G-quadruplexes (G4s) are secondary structural motifs occurring in guanine tracks, with regulatory effects on DNA and RNA. We analyzed 85 polymorphisms within or near five predicted G4s in TP53 in search of modifiers of penetrance of LFS/LFL in Brazilian cancer families with (n = 35) or without (n = 110) TP53 mutations. Statistical analyses stratified on family structure showed that cancer tended to occur ~15 years later in mutation carriers who also carried the variant alleles of two polymorphisms within predicted G4-forming regions, rs17878362 (TP53 PIN3, 16 bp duplication in intron 3; P = 0.082) and rs17880560 (6 bp duplication in 3' flanking region; P = 0.067). Haplotype analysis showed that this inverse association was driven by the polymorphic status of the remaining wild-type (WT) haplotype in mutation carriers: in carriers with a WT haplotype containing at least one variant allele of rs17878362 or rs17880560, cancer occurred ~15 years later than in carriers with other WT haplotypes (P = 0.019). No effect on age of cancer onset was observed in subjects without a TP53 mutation. The G4 in intron 3 has been shown to regulate alternative p53 messenger RNA splicing, whereas the biological roles of predicted G4s in the 3' flanking region remain to be elucidated. In conclusion, this study demonstrates that G4 polymorphisms in haplotypes of the WT TP53 allele have an impact on LFS/LFL penetrance in germline TP53 mutation carriers.
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.