Genomic and epigenetic aberrations of chromosome 1p36.13 have prognostic implications in malignancies

Naderi, Ali

doi:10.1007/s10577-020-09638-x

Cited by 2 publications

(2 citation statements)

References 34 publications

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“…Previous studies have shown that aberrations or deletions of 1p are associated with poorer survival in neuroblastoma, breast and colon cancer patients 46 . Importantly, copy number loss and somatic mutations of the 1p36.13 segment of the chromosome in primary tumours are significantly associated with worse survival, and DNA hypermethylation of 1p36.13 in normal adjacent tissues predicts poor outcomes 47 . Diffuse FL represents a distinct subtype of t (14; 18)‐negative nodal FL with unifying genetic alterations, namely deletion of 1p36 48 .…”

Section: Discussionmentioning

confidence: 99%

“…46 Importantly, copy number loss and somatic mutations of the 1p36.13 segment of the chromosome in primary tumours are significantly associated with worse survival, and DNA hypermethylation of 1p36.13 in normal adjacent tissues predicts poor outcomes. 47 Diffuse FL represents a distinct subtype of t (14; 18)-negative nodal FL with unifying genetic alterations, namely deletion of 1p36. 48 Collectively, these findings suggest that the 1p36.13 fragment exerts a tumour suppressor effect in malignancies and that genomic aberrations in this segment have prognostic implications in malignancies originating from multiple tissues.…”

Section: Discussionmentioning

confidence: 99%

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Integrative genomic and transcriptomic analysis reveals genetic alterations associated with the early progression of follicular lymphoma

et al. 2023

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SummaryFollicular lymphoma (FL), the most common indolent lymphoma, is a clinically and genetically heterogeneous disease. However, the prognostic value of driver gene mutations and copy number alterations has not been systematically assessed. Here, we analysed the clinical‐biological features of 415 FL patients to identify variables associated with disease progression within 24 months of first‐line therapy (POD24). Patients with B symptoms, elevated lactate dehydrogenase and β2‐microglobulin levels, unfavourable baseline haemoglobin levels, advanced stage, and high‐risk FL International Prognostic Index (FLIPI) scores had an increased risk of POD24, with FLIPI being the most important factor in logistic regression. HIST1H1D, identified as a driver mutation, was correlated with POD24. Gains of 6p22.2 (HIST1H1D) and 18q21.33 (BCL2) and loss of 1p36.13 (NBPF1) predicted POD24 independent of FLIPI. Gene expression profiling of FL samples showed that the POD24 cohort was significantly enriched in the inflammatory response (mediated by interferon and tumour necrosis factor), cell cycle regulation (transcription, replication and proliferation) sets and PI3K‐AKT–mTOR signalling. This result was further validated with transcriptome‐wide information provided by RNA‐seq at single‐cell resolution. Our study, performed on a large cohort of FL patients, highlights the importance of distinctive genetic alterations and gene expression relevant to disease diagnosis and early progression.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Integrative genomic and transcriptomic analysis reveals genetic alterations associated with the early progression of follicular lymphoma

et al. 2023

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Population-enriched innate immune variants may identify candidate gene targets at the intersection of cancer and cardio-metabolic disease

Yeyeodu,

Hanafi,

Webb

et al. 2024

Front. Endocrinol.

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Both cancer and cardio-metabolic disease disparities exist among specific populations in the US. For example, African Americans experience the highest rates of breast and prostate cancer mortality and the highest incidence of obesity. Native and Hispanic Americans experience the highest rates of liver cancer mortality. At the same time, Pacific Islanders have the highest death rate attributed to type 2 diabetes (T2D), and Asian Americans experience the highest incidence of non-alcoholic fatty liver disease (NAFLD) and cancers induced by infectious agents. Notably, the pathologic progression of both cancer and cardio-metabolic diseases involves innate immunity and mechanisms of inflammation. Innate immunity in individuals is established through genetic inheritance and external stimuli to respond to environmental threats and stresses such as pathogen exposure. Further, individual genomes contain characteristic genetic markers associated with one or more geographic ancestries (ethnic groups), including protective innate immune genetic programming optimized for survival in their corresponding ancestral environment(s). This perspective explores evidence related to our working hypothesis that genetic variations in innate immune genes, particularly those that are commonly found but unevenly distributed between populations, are associated with disparities between populations in both cancer and cardio-metabolic diseases. Identifying conventional and unconventional innate immune genes that fit this profile may provide critical insights into the underlying mechanisms that connect these two families of complex diseases and offer novel targets for precision-based treatment of cancer and/or cardio-metabolic disease.

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Genomic and epigenetic aberrations of chromosome 1p36.13 have prognostic implications in malignancies

Cited by 2 publications

References 34 publications

Integrative genomic and transcriptomic analysis reveals genetic alterations associated with the early progression of follicular lymphoma

Integrative genomic and transcriptomic analysis reveals genetic alterations associated with the early progression of follicular lymphoma

Population-enriched innate immune variants may identify candidate gene targets at the intersection of cancer and cardio-metabolic disease

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