ReviewAmerican Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting2013
Connecting molecular pathways to hereditary cancer risk syndromes.
Review in American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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
13 citing papers in PubMed, 25 citations in OpenAlex.
- Li-Fraumeni Syndrome With Six Primary Tumors-Case Report.Case reports in oncological medicine · 2024Article
- The Evolving Landscape of the Molecular Epidemiology of Malignant Pleural Mesothelioma.Journal of clinical medicine · 2021Review
- The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition.Journal of genetic counseling · 2018Article
- Whole-body MRI in pediatric patients with cancer.Cancer imaging : the official publication of the International Cancer Imaging Society · 2017Review
- Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations.Cancer research · 2016Article
- Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.Cancer research · 2016Article
- Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction.Cancer letters · 2015Article
- Article
- Comparative oncology: what dogs and other species can teach us about humans with cancer.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2015Review
- Epigenetic reduction of DNA repair in progression to gastrointestinal cancer.World journal of gastrointestinal oncology · 2015Article
- Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma.Cancer research · 2014Article
- Developmental disease and cancer: biological and clinical overlaps.American journal of medical genetics. Part A · 2013Review
- Whole-body magnetic resonance imaging in children: state of the art.Radiologia brasileiraReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge and treatment of all types of cancers. For this review, we focus on three rare syndromes and their associated genetic mutations including BAP1, TP53, and SDHx (SDHA, SDHB, SDHC, SDHD, SDHAF2). BAP1 encodes an enzyme that catalyzes the removal of ubiquitin from protein substrates, and germline mutations of BAP1 cause a novel cancer syndrome characterized by high incidence of benign atypical melanocytic tumors, uveal melanomas, cutaneous melanomas, malignant mesotheliomas, and potentially other cancers. TP53 mutations cause Li-Fraumeni syndrome (LFS), a highly penetrant cancer syndrome associated with multiple tumors including but not limited to sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas. Genomic modifiers for tumor risk and genotype-phenotype correlations in LFS are beginning to be identified. SDH is a mitochondrial enzyme complex involved in the tricarboxylic acid (TCA) cycle, and germline SDHx mutations lead to increased succinate with subsequent paragangliomas, pheochromocytomas, renal cell carcinomas (RCCs), gastrointestinal stromal tumors (GISTs), and other rarer cancers. In all of these syndromes, the molecular pathways have informed our understanding of tumor risk and successful early tumor surveillance and screening programs.
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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.