Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Cancer genomics”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources
PubMed2005

Telomere-related genome instability in cancer.

Genome instability is a hallmark of most human cancers. Although a mutator phenotype is not required for tumorigenesis, it can foster mutations that promote tumor progression. Indeed, several inherited cancer-prone syndromes are due to mutations in DNA repair pathways. However, sporadic tumors are usually proficient in DNA repair, making it unlikely that unrepaired lesions are a major source of genome instability in sporadic cancers. A decade ago, I argued in another CSHL Press publication that a "collapse in telomere function can explain a significant portion of the genetic instability in tumors" (de Lange 1995). Since that time, the structure of mammalian telomeres has been analyzed, the consequences of telomere dysfunction have been determined, a mouse model for cancer-relevant aspects of telomere biology has been developed, and the nature and magnitude of cancer genome rearrangements have been revealed. In light of these developments, this is an opportune time to revisit the conjecture that telomere dysfunction contributes to genome instability in human cancer.

Aneuploidy↗
PubMed1990

Genomic imprinting and cancer.

Genomic imprinting results in a functional non-equivalence of parental chromosomes, presumably by epigenetic modification of the genome, and is required for normal mammalian development. In general, reciprocal phenotypes are observed in embryos containing alterations in the dosage of parental chromosomes, for example where both copies of chromosomes or chromosomal regions are derived from one parent. These phenotypes indicate that duplications of maternal chromosomes inhibit embryonic growth and proliferation whereas duplications of the paternal genome result in enhanced cell growth and proliferation. Alterations in the dosage of parental chromosomes have recently been observed in some forms of recessive tumour in man. Here we discuss the role and possible mechanisms of genomic imprinting during embryogenesis and attempt to draw parallels between the parental origin of the loss of heterozygosity observed in some human tumours and the developmental phenotypes that arise in mice with similar distortions of parental origin. These observations strongly implicate genomic imprinting in the genesis of some forms of tumour and, more generally, in the genetic predisposition to cancer.

Animals↗
PubMed1998

Genomic imprinting and cancer.

Genomic imprinting is the phenomenon by which individual alleles of certain genes are expressed differentially according to their parent of origin. The alleles appear to be differentially marked during gametogenesis or during the early part of development. This mark is heritable but reversible from generation to generation, implying a stable epigenetic modification. Approximately 25 imprinted genes have been identified to date, and dysregulation of a number of these has been implicated in tumour development. The normal physiological role of many imprinted genes is in the control of cell proliferation and fetal growth, indicating potential mechanisms of action in tumour formation. Both dominant and recessive modes of action have been postulated for the role of imprinted genes in neoplasia, as a result of effective gene dosage alterations by epigenetic modification of the normal pattern of allele specific transcription. The aim of this review is to assess the importance of imprinted genes in generating tumours and to discuss the implications for novel mechanisms of transforming mutation.

Chromosomes, Human, Pair 11↗
PubMed2026

Aligning awareness, systems and policy to increase equitable access to genomically driven cancer care.

Genomic testing has the potential to transform cancer care across the patient pathway. However, its benefits remain unevenly realised across populations and health systems. Precision oncology is characterised by a strong promissory discourse, with expectations of improved outcomes and cost-effectiveness, yet real-world implementation remains variable and context dependent. This review examines how patient and public awareness interacts with, and is constrained by, structural, organisational and political-economic factors that shape equitable access to genomically driven cancer care across five themes: (1) the power of patient and public advocacy; (2) learning from the patient perspective; (3) culturally responsive communication; (4) structural and personal barriers and facilitators and (5) political economy of health. Examples are mapped across global regions to highlight how health system, structural and societal factors continue to limit the universal realisation of genomic medicine's benefits. We present four recommendations to strengthen the translation of awareness into equitable access and clinical impact: (1) expand and adequately power genomic studies in underserved populations; (2) improve risk communication and decision-making across the cancer pathway; (3) equitable validation and interpretation of emerging genomic technologies and (4) generate real-world evidence on access, uptake and outcomes of genome-matched therapies. Embedding awareness, trust, access and equity in future initiatives is imperative to realise the promise of precision medicine for all patients.

Biomarkers↗
PubMed2026

Trustworthy Agentic AI in Bioinformatics: From Workflow Automation to Traceable and Validated Biological Inference.

Agentic artificial intelligence is extending bioinformatics beyond conversational assistance by enabling systems to select tools, execute code, revise analytical plans, and interpret biological data. These capabilities may accelerate research, but they also redistribute decisions that determine whether biological conclusions are valid. We conducted a targeted, structured PubMed search in July 2026 and identified 11 peer-reviewed agentic bioinformatics systems for descriptive review based on predefined eligibility criteria for analytical decision-making, tool or code execution, iterative evaluation, or coordinated agent activity. The evidence base covered single-cell transcriptomics, microbial genomics, cancer genomics, and omics applications, together with methodological literature on reproducibility and biological validation. We examined how current systems report delegated authority, provenance, validation, evidence, abstention, and human oversight. Existing platforms implement safeguards such as sandboxed execution, restricted commands, interaction logs, evidence identifiers, automated checks, critic agents, quality scores, and expert assessment. However, published reports rarely provide a connected account linking the original biological question to samples, reference resources, analytical decisions, computational actions, statistical results, supporting evidence, validation outcomes, and final claims. We distinguish inherited bioinformatics errors, errors amplified through autonomous action, and emergent failures arising from memory, retrieval, tool interaction, or agent coordination. We further propose a multidimensional decision-rights profile, consequence-sensitive validation gates, and a claim-to-evidence provenance architecture organized through the Traceable History of Research Evidence, Agent Actions, and Decisions in Bioinformatics (THREAD-Bio) framework. Illustrative cases show that technically successful execution may still support misleading inference. Trustworthy agentic bioinformatics therefore requires claims to remain reconstructible, challengeable, validated, and proportionate to the evidence.

accountable autonomy↗
PubMed2006

[ENT cancers and genomics].

ENT cancers in France - with the fourth rank after the breast, colon and prostate localizations - represent on important problem of public health. Survival at five years reaches a maximum in spite of undeniable therapeutic progress, in particular with the targeted treatments associated to conventional cytotoxic drugs. The studies in progress still make it possible to hope for new predictive and prognostic biological markers, but the complexity of these parameters, as well as the needs for heavy and expensive equipment to explore them, require a unification of the efforts and means. It is the major objective of the cooperative program PACOR.

Biomarkers, Tumor↗
PubMed2005

Oncogenomics 2005 meeting report: dissecting cancer through genome research.

The Oncogenomics Conference was held on February 2 to 5, 2005 at the Omni San Diego Hotel, San Diego, CA. The meeting chairpersons were Dr. Jeffrey Trent (Translational Genomics Research Institute, Phoenix, AZ) and Dr. Nicholas Dracopoli (Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, NJ). This fourth conference sponsored by the AACR brought together a diverse group of scientists working in the fields of genome research, cancer biology, and epidemiology, and explored how genomic research can be used most effectively to impact the clinical response to cancer. Advances in the clinical application of pharmacogenomics to predict response to oncology therapeutic modalities led to a dramatic increase in the number of presentations and posters with a clinical focus at this year's meeting. The keynote address was given by Dr. William Evans (St. Jude Children's Hospital, Memphis, TN) who discussed the pharmacogenomics of acute lymphoblastic leukemia as a cancer paradigm.

Animals↗
PubMed2005

Identification of chromosome arm 9p as the most frequent target of homozygous deletions in lung cancer.

Genome scanning at a 1-Mb resolution was undertaken in 29 lung cancer cell lines to clarify the distribution of homozygous (i.e., both allele) deletions along lung cancer genomes, using a high-resolution single nucleotide polymorphism array. Eighteen regions, including two known tumor suppressor loci, CDKN2A at 9p21 and FHIT at 3p14, were found homozygously deleted. Frequencies of deletions at the 18 regions were evaluated by genomic polymerase chain reaction in 78 lung cancer cell lines. Seven regions, 2q24, 3p14, 5q11, 9p21, 9p23, 11q14, and 21q21, were homozygously deleted in two or more cell lines. The CDKN2A locus at 9p21 was most frequently deleted (20/78, 26%), and the deletions were detected exclusively in non-small-cell lung carcinomas (NSCLCs). The PTPRD (protein tyrosine phosphatase receptor type D) locus at 9p23 was the second-most frequently deleted (8/78, 10%), and the deletions were detected in both small-cell lung carcinomas (SCLC) and NSCLC. In addition, the 9p24 region was deleted in a NSCLC. In total, 24 (31%) cell lines carried at least one deletion on chromosome arm 9p, while deletions on the remaining chromosome arms were observed at most in four (5%) cell lines. Deletions at 9p24, 9p23, and 9p21 were not contiguous with one another, and preferential co-occurrence or mutual exclusiveness for the deletions at these three loci was not observed. Thus, it was indicated that 9p is the most frequent target of homozygous deletions in lung cancer, suggesting that the arm contains multiple lung tumor suppressor genes and/or genomic features fragile during lung carcinogenesis.

Carcinoma, Non-Small-Cell Lung↗
PubMed1996

[Altered genomic imprinting in the IGF2 and H19 genes in human lung cancer].

Genomic imprinting is defined as a gamete-specific modification causing differential expression of the two alleles of a gene in somatic cells. While insulin-like growth factor 2 (IGF2) and H19 both at 11p15 are imprinted in normal lung, we observed frequent loss of imprinting (LOI) of the IGF2 and H19 genes in the lung cancer. While genomic imprinting is thought to play an important role in embryonal development and possibly in the development of certain embryonal tumors such as Wilms' tumor, these results suggest that altered imprinting may also play a role in the oncogenesis of this common cancer of adults, lung cancer.

Genomic Imprinting↗