Polymorphisms associated with oral clefts as potential susceptibility markers for oral and breast cancer

Freitas, Eduardo; Machado, Renato Assis; Santos, Edilmar de Moura; Matos, Felipe Rodrigues de; Galvão, Hébel Cavalcanti; Soares, Priscila Bernardina Miranda; Freitas, Roseana de Almeida; Martelli‐Júnior, Hercílio

doi:10.1016/j.archoralbio.2018.12.004

Cited by 13 publications

(16 citation statements)

References 43 publications

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“…We recently demonstrated that polymorphic variants in AXIN2 and CDH1, which are involved in cell adhesion and migration and are strongly related to breast and gastric cancer, are associated with NSOC, reinforcing the putative link between cancer and oral clefting [5]. A recent study revealed a significant association between oral cancer risk and variants in GSK3β (rs9879992) and WNT11 (rs1533767) [30], which are also associated with NSOC risk [31]. Members of the WNT signaling pathway, including GSK3β and WNT11, control migration, polarity, and fate during embryonic development and are widely implicated in human cancers [32].…”

Section: Discussionmentioning

confidence: 80%

Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia

et al. 2020

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Multiple studies have demonstrated an association between cancer and nonsyndromic oral clefts in different populations. In this study, we assessed the occurrence of nonsyndromic oral clefts in families of patients with acute lymphoblastic leukemia (ALL, n = 50) and controls (n = 125). The parents of the patients answered a questionnaire with basic demographic information and family history of nonsyndromic oral clefts in first-degree relatives. Statistical analysis was carried out using Fisher’s exact test. In the ALL group, 22 (44%) were male and 28 (56%) were female, and the average age was 13.2 ± 12.2 years. In the control group, 64 (51.2%) were male and 65 were female and the average age was 11.3 ± 10.3 years. Two out of 50 patients (4%) with acute lymphoblastic leukemia had a positive history of nonsyndromic oral clefts, whereas there were no reported occurrences of nonsyndromic oral clefts in the control group (OR: 12.94, 95% CI: 0.61–274.6, p = 0.08). Despite the limited population, the frequency of nonsyndromic oral clefts was increased in the first-degree relatives of patients with acute lymphoblastic leukemia. Studies with larger samples and molecular analyses are needed to better understand the possible etiological relationship between cancer and nonsyndromic oral clefts.

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Section: Discussionmentioning

confidence: 80%

Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia

et al. 2020

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“…Skin cancer is the most common type of cancer, and breast cancer is the most common type of cancer in women (Bray et al, 2018). This link has been explained by the fact that certain malignancies and NSOC may have comparable etiologies (Freitas et al, 2019; Machado et al, 2017). Although exposure of the embryo to ionizing radiation is known to cause congenital anomalies (Bladen et al, 2007), the external exposure that comes from beta and gamma rays emitted from the soil, the main cause of skin cancer (D'Orazio et al, 2013), is not known to cause NSOC.…”

Section: Discussionmentioning

confidence: 99%

“…Variations in E‐cadherin (CDH1), which is involved in cell adhesion that is expressed in epithelial cell types, were also found in gastric cancer and NSOC (Frebourg et al, 2006; Machado et al, 2017). A previous study found an association between oral cancer risk and Glycogen Synthase Kinase 3 Beta ( GSK3β ) and Wnt Family Member 11 ( WNT11 ) gene variations (Freitas et al, 2019), which were similarly associated with NSOC risk (Chiquet et al, 2008). Both are members of the WNT signaling system, which regulates migration, polarity, and destiny throughout embryonic development and have been linked to a variety of human malignancies (Nusse & Clevers, 2017).…”

Section: Discussionmentioning

confidence: 99%

Relationship between non‐syndromic oral clefts and cancer: A systematic review and meta‐analysis

2022

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Objective To summarize the clinical evidence on the relationship between cancer and non‐syndromic oral cleft (NSOC). Methods The review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses checklist, and a literature search was conducted in six databases and gray literature. Studies published in any language mentioning cancer in patients with NSOC and their relatives and NSOC in patients with cancer and their relatives were included. Risk of bias was assessed using the Joanna Briggs Institute appraisal tool. The certainty of the evidence was evaluated using the GRADE (Grading of Recommendation, Assessment, Development, and Evaluation) assessment. After a 2‐step selection process, 33 studies were included: 17 case–control studies, 13 cross‐sectional studies, and 3 case reports. Results The study evaluated 206,096 patients from 20 countries. Of these, 0.35% of patients with cancer (95% CI: 0.0%–1.1%; I2 = 86%), 3.0% of relatives of patients with cancer (95% CI: 1.19%–5.46%; I2 = 55%), and 0.26% of controls (95% CI: 0.0%–0.83%; I2 = 87%) had NSOC. Among the studies that examined the prevalence of cancer, 2.4% (95% CI: 0.0%–19.3%; I2 = 99%) of patients with NSOC, 15.4% of relatives of patients with NSOC (95% CI: 2.0%–37.6%; I2 = 99%), and 5.3% of controls (95% CI: 0.0%–22.8%; I2 = 99%) had cancer. Although no relationship was observed between the risk of cancer in patients with NSOC and the risk of NSOC in patients with cancer, there was an association for an increased risk of cancer in relatives of patients with NSOC (OR: 9.96, 95% CI: 1.55–63.99; p = 0.01) and a significant association for the NSOC risk in relatives of patients with leukemia (OR: 9.31; 95% CI: 1.13–76.67; p = 0.03). Conclusion Our findings demonstrate an increased risk of cancer in relatives of patients with NSOC and that relatives of patients with leukemia were more frequently affected by NSOC. Together, these findings can help guide cancer screening in patients with NSOC and their relatives and shed light on the risk of NSOC in families with a history of cancer.

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“…Study has shown that IRF6 can be used as the downstream of Notch signaling pathway to regulate the proliferation and transformation of breast cancer cells, and can be used as a potential susceptibility marker of breast cancer (17,18). In cutaneous squamous cell carcinoma, the expression of IRF6 is signi cantly decreased, and down-regulation of IRF6 can promote the invasion and growth of cancer cells (19).…”

Section: Discussionmentioning

confidence: 99%

Inhibition of KIF20A by Transcription Factor IRF6 Affects the Progression of Renal Clear Cell Carcinoma

Wang

Dong

et al. 2020

Preprint

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Background: Renal clear cell carcinoma (ccRCC) is one of the most common malignant tumors, and its incidence is increasing year by year. IRF6 plays an important role in the occurrence of tumors, but the expression of IRF6 in ccRCC has not been reported so far.Methods: The expression of IRF6 and KIF20A in ccRCC was predicted by GEPIA and HAP database. In addition, the GEPIA database predicted the relationship between the expression of IRF6 and KIF20A and the pathological staging, overall survival, and disease-free survival of ccRCC. The possible binding sites of IRF6 and KIF20A promoters were predicted by JASPAR database and verified by luciferase and ChIP experiments. The specific effects of IRF6 on proliferation invasion and apoptosis of ccRCC were subsequently examined at the cellular level. The expression of IRF6 and KIF20A in ccRCC cell lines was detected by RT-qPCR and western blot. Cell transfection techniques were used to construct IRF6 and KIF20A overexpressed or interfering plasmids. CCK-8 and clone formation assays were used to detect cell activity. Apoptosis was detected by TUNEL assay. Wound healing and Transwell assays detected the ability of cell migration and invasion, respectively.Results: The database predicted that IRF6 expression was down-regulated in renal carcinoma tissues and correlated with poor prognosis. Cell experiments showed that overexpression of IRF6 inhibited proliferation, invasion and migration of ccRCC. In addition, the database predicted that KIF20A was up-regulated in renal carcinoma tissues and associated with prognosis, and cell experiments demonstrated that interference with KIF20A inhibited proliferation, invasion, and migration of ccRCC. Finally, we confirmed that KIF20A is a functional target of IRF6, and KIF20A partially reverses the effects of IRF6 on the proliferation, invasion and migration of ccRCC.Conclusion: Inhibition of KIF20A by transcription factor IRF6 affects the cell proliferation, invasion, migration of renal clear cell carcinoma.

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Polymorphisms associated with oral clefts as potential susceptibility markers for oral and breast cancer

Cited by 13 publications

References 43 publications

Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia

Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia

Relationship between non‐syndromic oral clefts and cancer: A systematic review and meta‐analysis

Inhibition of KIF20A by Transcription Factor IRF6 Affects the Progression of Renal Clear Cell Carcinoma

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