Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer

Bui, Anthony; Ayub, Ayisha; Ahmed, Mairaj K.; Taioli, Emanuela; Taub, Peter J.

doi:10.1097/sap.0000000000001331

Cited by 18 publications

(25 citation statements)

References 34 publications

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“…Furthermore, there are disparities in access to such therapies for OFCs (Nidey and Wehby 2019), similar to other malformations with complex medical and surgical needs. Some studies have suggested a reduced quality of life for individuals with OFCs (Naros et al 2018), while other studies have identified higher risk to certain types of cancers (Bille et al 2005;Bui et al 2018;Taioli et al 2010). Thus, it is critical to identify etiologic factors leading to OFCs to improve diagnostics, treatments, and outcomes.…”

Section: Introductionmentioning

confidence: 99%

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

et al. 2019

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Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-syndromic OFCs is only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from a multicenter family-based OFC study. This is the first large-scale WGS study of OFC in parent-offspring trios, and a part of the Gabriella Miller Kids First Pediatric Research Program created for the study of childhood cancers and structural birth defects. WGS provides deeper and more specific genetic data than using imputation on present-day single nucleotide polymorphic (SNP) marker panels. Genotypes of case-parent trios at single nucleotide variants (SNV) and short insertions and deletions (indels) spanning the entire genome were called from their sequences using human GRCh38 genome assembly, and analyzed for association using the transmission disequilibrium test. Among genome-wide significant associations, we identified a new locus on chromosome 21 in Colombian families, not previously observed in other larger OFC samples of Latin American ancestry. This locus is situated within a region known to be expressed during craniofacial development. Based on deeper investigation of this locus, we concluded that it contributed risk for OFCs exclusively in the Colombians. This study reinforces the ancestry differences seen in the genetic etiology of OFCs, and underscores the need for larger samples when studying for OFCs and other birth defects in populations with diverse ancestry.

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Section: Introductionmentioning

confidence: 99%

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

et al. 2019

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“…Kids First was established in 2015 to address gaps in our understanding of the genetic etiologies of structural birth defects and pediatric cancers by providing WGS of case-parent trios with these major pediatric conditions. Addressing both of these areas (structural birth defects and pediatric cancers) in Kids First was partially motivated by the observation that children with birth defects such as OFCs are at a higher risk of also developing some cancers, and their family members also have elevated risk (7, 8), suggesting there may be shared genetic pathways underlying cancer and birth defects. The KidsFirst study consists of 952 case-parent trios (i.e.…”

Section: Introductionmentioning

confidence: 99%

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Mukhopadhyay

Bishop

Mortillo

et al. 2019

Preprint

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51 Orofacial clefts (OFCs) are one of the most common birth defects worldwide and create a 52 significant health burden. The majority of OFCs are non-syndromic, and the genetic component 53 has been only partially determined. Here, we analyze whole genome sequence (WGS) data for 54 association with risk of OFCs in European and Colombian families selected from a multicenter 55 family-based OFC study. Part of the Gabriella Miller Kids First Pediatric Research Program, this 56 is the first large-scale WGS study of OFC in parent-offspring trios. WGS provides deeper and 57 more specific genetic data than currently available using imputation on single nucleotide 58 polymorphic (SNP) marker panels. Here, association analysis of genome-wide single nucleotide 59 variants (SNV) and short insertions and deletions (indels) identified a new locus on chromosome 60 21 in Colombian families, within a region known to be expressed during craniofacial 61 development. This study reinforces the ancestry differences seen in the genetic etiology of OFCs, 62 and the need for larger samples when for studying OFCs and other birth defects in admixed 63 populations. 64

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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.…”

Section: Introductionmentioning

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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Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer

Cited by 18 publications

References 34 publications

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

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

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