Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

García, Ana Gómez-Carpintero; Esteban, Ana Vidal; Bermejo-Gómez, Amanda; Torrejón, Ruth Camila Púa

doi:10.1136/bcr-2019-231938

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Alterations in the 8q24 cytoband have been associated with multiple conditions, including cancer; several mechanisms have been proposed, including chromosomal translocations (50), viral integration (51), identification of nucleotide variations (51)(52)(53), and variations in the number of copies (24). The 8q24.21 cytoband is one of the most studied due to its association with various types of cancer or complex diseases; this locus has very few protein-coding genes and is rich in long non-coding RNAs (lncRNAs) (54).…”

Section: Q24 Cytoband Genes and Single Nucleotide Polymorphisms (Snps)mentioning

confidence: 99%

The landscape of 8q24 cytoband in gastric cancer (Review)

Larios‑Serrato,

Valdez‑Salazar,

Ruiz‑Tachiquín

2024

Oncol Lett

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Worldwide, gastric cancer (GC) is estimated to be the fifth most common type of cancer type in both sexes, ranking sixth for new cases, with >640,850 cases per year, and fourth in terms of mortality rate. Cancer presents numerical and structural alterations in chromosomes, often through gains and losses of regions. In GC, there are multiple genetic alterations, in which those located in cytoband 8q24 have been frequently described; essential genes are present in this cytoband, regulating the homeostasis of crucial biological processes, such as the MYC gene, which induces expression of selective genes to promote cell growth and proliferation. Conversely, DNA sequence variations can also occur when a single nucleotide in the genome sequence is altered, and this is termed a single nucleotide polymorphism (SNP). These alterations, which can serve as a biological marker, are present in at least 1% of the population and assist in identifying genes associated with GC. In the present review, 12 genes present in cytoband 8q24 related to GC (NSMCE2, PCAT1, CASC19, CASC8, CCAT2, PRNCR1, POU5F1B, PSCA, JRK, MYC, PVT1 and PTK2) are discussed. The PSCA gene was cited more frequently than others; it has four known SNPs associated with GC (rs2978980, rs2294008, rs2976392 and rs9297976). Thus, these SNPs should be further studied in different populations to determine their risk value in patients with GC. Contents1. Gastric cancer (GC) 2. Chromosomes and copy number alterations 3. 8q24 cytoband genes and single nucleotide polymorphisms (SNPs) 4. SNPs and the risk of cancer 5. Conclusions

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Section: Q24 Cytoband Genes and Single Nucleotide Polymorphisms (Snps)mentioning

confidence: 99%

The landscape of 8q24 cytoband in gastric cancer (Review)

Larios‑Serrato,

Valdez‑Salazar,

Ruiz‑Tachiquín

2024

Oncol Lett

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“…The 8q24 cytoband has been associated with multiple conditions, including cancer; several mechanisms have been proposed, including chromosomal translocations (48), viral integration (49), identification of nucleotide variations (49,50,51) variations in the number of copies (23).…”

Section: Q24 Cytoband Genes and Snpmentioning

confidence: 99%

The landscape of 8q24 cytoband in gastric cancer

Larios-Serrato,

Valdez-Salazar,

Ruiz-Tachiquín

2023

Preprint

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Worldwide, gastric cancer (GC) is estimated to be the fifth most common cancer type in both sexes, ranking sixth for new cases, with over 640 850 cases per year, and fourth in mortality. Cancer presents numerical and structural alterations in chromosomes and presents gains and losses of regions. In GC there are multiple genetic alterations, in which those located in cytoband 8q24 have been repeatedly described; essential genes are in this cytoband, regulating the homeostasis of crucial biological processes, such as the MYC gene triggers selective gene expression amplification to promote cell growth and proliferation. On the other hand, DNA sequence variation occurs when a single nucleotide in the genome sequence is altered is called single nucleotide polymorphism, SNP. This alteration is present in at least 1% of the population which acts as biological markers, helping locate genes associated with the disease. In this bibliographic analysis, twelve genes were in cytoband 8q24 related to GC: NSMCE2, PCAT1, CACS19, CASC8, CCAT2, PRNCR1, POU5FIB, PSCA, JRK, MYC, PVT1 and PTK2. The PSCA gene was cited more frequently than others, it has four SNP: rs2978980, rs2294008, rs2976392, and rs9297976, the four with reports associated with GC; these SNP should be further studied in different populations to determined them their risk value in GC.

show abstract

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

Cited by 2 publications

References 9 publications

The landscape of 8q24 cytoband in gastric cancer (Review)

The landscape of 8q24 cytoband in gastric cancer (Review)

The landscape of 8q24 cytoband in gastric cancer

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