Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene

Avitabile, Marianna; Succoio, Mariangela; Testori, Alessandro; Cardinale, Antonella; Vaksman, Zalman; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Esposito, M.; Cimmino, Flora; Montella, Annalaura; Formicola, Daniela; Koster, Jan; Andreotti, Virginia; Ghiorzo, Paola; Romano, Maria Fiammetta; Staibano, Stefania; Scalvenzi, Massimiliano; Ayala, Fabrizio; Hákonarson, Hákon; Corrias, Maria Valeria; Devoto, Marcella; Law, Matthew H.; Iles, Mark M.; Brown, Kevin M.; Diskin, Sharon J.; Zambrano, Nicola; Iolascon, Achille; Capasso, Mario

doi:10.1093/carcin/bgz153

Cited by 22 publications

(20 citation statements)

References 49 publications

(35 reference statements)

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“…Although the high values of rNSM would suggest a tumor suppressor role for SLC16A1 , several studies suggest that the protein may serve a pro-oncogenic role. For example, depletion of SLC16A1 was found to decrease cellular proliferation and invasion in both neuroblastoma and malignant cutaneous melanoma cell lines, suggesting its role as an oncogene (OG; Avitabile et al, 2020 ). The pro-oncogenic role of MCT1 is also supported by the results of studies on esophageal squamous cell carcinoma (ESCC).…”

Section: Examples Of Genes With Strong Signatures Of Positive And/or mentioning

confidence: 99%

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Bányai

Trexler

Kerekes

et al. 2021

eLife

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A major goal of cancer genomics is to identify all genes that play critical roles in carcinogenesis. Most approaches focused on genes positively selected for mutations that drive carcinogenesis and neglected the role of negative selection. Some studies have actually concluded that negative selection has no role in cancer evolution. We have re-examined the role of negative selection in tumor evolution through the analysis of the patterns of somatic mutations affecting the coding sequences of human genes. Our analyses have confirmed that tumor suppressor genes are positively selected for inactivating mutations, oncogenes, however, were found to display signals of both negative selection for inactivating mutations and positive selection for activating mutations. Significantly, we have identified numerous human genes that show signs of strong negative selection during tumor evolution, suggesting that their functional integrity is essential for the growth and survival of tumor cells.

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Section: Examples Of Genes With Strong Signatures Of Positive And/or mentioning

confidence: 99%

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Bányai

Trexler

Kerekes

et al. 2021

eLife

View full text Add to dashboard Cite

show abstract

“…Although the high values of rNSM would suggest a tumor suppressor role for SLC16A1, several studies suggest that the protein may serve a pro-oncogenic role. For example, depletion of SLC16A1 was found to decrease cellular proliferation and invasion in both neuroblastoma and malignant cutaneous melanoma cell lines, suggesting its role as an oncogene (Avitabile et al, 2019). The pro-oncogenic role of MCT1 is also supported by the results of studies on esophageal squamous cell carcinoma ESCC.…”

Section: Monocarboxylate Transporter 1 Mct1 Encoded By the Slc16a1 Genementioning

confidence: 84%

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Bányai

Trexler

Kerekes

et al. 2020

Preprint

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A major goal of cancer genomics is to identify all genes that play critical roles in carcinogenesis. Most approaches focused on genes that are positively selected for mutations that drive carcinogenesis and neglected the role of negative selection. Some studies have actually concluded that negative selection has no role in cancer evolution. In the present work we have re-examined the role of negative selection in tumor evolution through the analysis of the patterns of somatic mutations affecting the coding sequences of human genes. Our analyses have confirmed that tumor suppressor genes are positively selected for inactivating mutations. Oncogenes, however, were found to display signals of both negative selection for inactivating mutations and positive selection for activating mutations. Significantly, we have identified numerous human genes that show signs of strong negative selection during tumor evolution, suggesting that their functional integrity is essential for the growth and survival of tumor cells.

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“…In addition, Avitabile et al. 18 identified that 1p13.2 was a common susceptibility locus for neuroblastoma and melanoma risk by examining pleiotropy across two neural crest cell-derived tumors. Testori et al.…”

Section: Introductionmentioning

confidence: 99%

Association between NER pathway gene polymorphisms and neuroblastoma risk in an eastern Chinese population

Zhou

Wang

et al. 2021

Molecular Therapy - Oncolytics

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Neuroblastoma is a common childhood malignancy. Nucleotide excision repair (NER) polymorphisms have been shown to influence cancer susceptibility by modifying DNA repair efficiency. To investigate the association of NER gene polymorphisms with neuroblastoma risk, we constructed a three-center case-control study. A total of 19 candidate single-nucleotide polymorphisms (SNPs) in NER genes were analyzed. Odds ratios (ORs) and 95% confidential intervals (CIs) were calculated to evaluate the associations. We identified five independent SNPs that were significantly associated with neuroblastoma risk, including XPA rs1800975 (dominant model: adjusted OR = 0.73, 95% CI = 0.55–0.98, p = 0.033), XPA rs3176752 (recessive model: adjusted OR = 2.78, 95% CI = 1.12–6.91, p = 0.028), XPD rs3810366 (dominant: adjusted OR = 1.44, 95% CI = 1.05–1.97, p = 0.022; recessive: adjusted OR = 1.58, 95% CI = 1.18–2.11, p = 0.002), XPD rs238406 (dominant: adjusted OR = 0.64, 95% CI = 0.48–0.84, p = 0.002; recessive: adjusted OR = 0.67, 95% CI = 0.48–0.94, p = 0.021), and XPG rs2094258 (recessive: adjusted OR = 1.44, 95% CI = 1.03–2.04, p = 0.036). Stratified analysis was carried out. Furthermore, these findings were strengthened by false-positive report probability (FPRP) analysis and expression quantitative trait loci (eQTL) analysis. In conclusion, our study indicates that five SNPs in NER genes are correlated with neuroblastoma susceptibility in the eastern Chinese population, providing novel insight into the genetic underpinnings of neuroblastoma. However, further large-scale studies are required to verify these findings.

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Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene

Cited by 22 publications

References 49 publications

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

Association between NER pathway gene polymorphisms and neuroblastoma risk in an eastern Chinese population

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