Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

Gonçalves, Eduardo; Martelli, Daniella Reis Barbosa; Coletta, Ricardo D.; Vieira, Alexandre R.; Caldeira, Antônio Prates; Martelli, Hercílio

doi:10.1590/1807-3107bor-2014.vol28.0056

Cited by 11 publications

(10 citation statements)

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“…Several of the NSCL/P effects may extend into adulthood like an increased risk of cancer [17][18][19] . Previous studies have also shown a high risk of cancer in relatives of patients with NSCL/P 18,20 . This association has been explained, because cancer and NSCL/P may share similar genetic defects, which may be segregated within family 21,22 .…”

Section: Introductionmentioning

confidence: 89%

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

et al. 2016

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Aim: : To describe the clinical, demographic and environmental features associated with NSCL/P (nonsyndromic cleft lip and/or palate) patients born in western Parana state, Brazil. Methods: This cross-sectional, observational, retrospective study included 188 patients attended at the Association of Carriers of Cleft Lip and Palate - APOFILAB, Cascavel-Parana, between 2012 and 2014. Information on demographic characteristics, medical and dental histories and life style factors were obtained from records and personal interviews. Results: Among the 188 patients, cleft lip and palate (CLP) was the most frequent subtype (55.8%), followed by cleft lip only (CLO, 25.0%) and cleft palate only (CPO, 19.2%). Caucasian males were the most affected, although no differences among types of cleft were observed. The otorhinolaryngologic and respiratory alterations were the most frequent systemic alterations in NSCL/P patients, and more than 80% of the NSCL/P mothers reported no vitamin supplements during the first trimester of pregnancy. Conclusions: This study revealed that the prevalence of nonsyndromic oral cleft types in this cohort was quite similar to previously reported prevalence rates. Systemic alterations were identified among 23.4% of the patients and patients with CLP were the most affected. History of maternal exposition to environmental factors related to nonsyndromic oral clefts was frequent and most mothers reported no vitamin supplements during the pregnancy. This study highlights the importance of identifying systemic alterations and risk factors associated with NSCL/P in the Brazilian population for planning comprehensive strategies and integrated actions for the development of preventive programs and treatment.

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Section: Introductionmentioning

confidence: 89%

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

et al. 2016

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“…Epidemiological studies have shown a high risk of oral clefts in families with cancer, while others have provided consistent data about increased risk of cancer in patients with oral cleft and their relatives [14–18]. This association has been explicated because specific cancers, including those of breast and stomach, and NSCL ± P may share similar genetic etiology [14, 19–21].…”

Section: Introductionmentioning

confidence: 99%

Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

et al. 2017

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BackgroundEpidemiological studies have indicated a higher incidence of breast and gastric cancer in patients with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and their relatives, which can be based on similar genetic triggers segregated within family with NSCL ± P.MethodsThis multicenter study evaluated the association of 9 single nucleotide polymorphisms (SNP) in AXIN2 and CDH1, representing genes consistently altered in breast and gastric tumors, with NSCL ± P in 223 trios (father, mother and patient with NSCL ± P) by transmission disequilibrium test (TDT).ResultsOur results showed that the minor A allele of rs7210356 (p = 0.01) and the T-G-G-A-G haplotype formed by rs7591, rs7210356, rs4791171, rs11079571 and rs3923087 SNPs (p = 0.03) in AXIN2 were significantly under-transmitted to patients with NSCL ± P. In CDH1 gene, the C-G-A-A and A-G-A-G haplotypes composed by rs16260, rs9929218, rs7186053 and rs4783573 polymorphisms were respectively over-transmitted (p = 0.01) and under-transmitted (p = 0.008) from parents to the children with NSCL ± P.ConclusionsThe results suggest that polymorphic variants in AXIN2 and CDH1 may be associated with NSCL ± P susceptibility, and reinforce the putative link between cancer and oral clefts.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-017-0390-y) contains supplementary material, which is available to authorized users.

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“…Although multiple candidate genes and genetic loci conferring susceptibility to NSOC have been associated with cancer risk [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26], the genetic pathways underlying cancer and birth defects remain to be identified. Interestingly, NSOC is ultimately caused by interferences in cell proliferation, differentiation, survival, adhesion and migration, all of which are known to be involved in cancer [4].…”

Section: Discussionmentioning

confidence: 99%

“…The concept is that genes acting during the normal development may also have an important role in malignancies [6]. Over the past years, epidemiological studies have investigated the association of cancer with NSOC in different populations, including those from the United States, Southeast Asia, Denmark, Latvia, India, the Netherlands, Turkey, France, Poland, Pakistan, and Brazil [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26], and the results are controversial. Thus, the aim of this study was to determine the frequency of NSOC in families of patients with a diagnosis of ALL.…”

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confidence: 99%

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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Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

Cited by 11 publications

References 13 publications

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

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

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