Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in <i>CDH1</i>

Benusiglio, Patrick R.; Caron, Olivier; Consolino, Émilie; Duvillard, P.; Coulet, Florence; Blayau, Martine; Malka, David

doi:10.1002/ijc.27923

Cited by 36 publications

(35 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The increased occurrence of cleft lip/cleft palate in HDGC patients with a CDH1 mutation was suggested by Frebourg et al [12] and supported by Kluijt et al [13], who have described 4/58 (7 %) CDH1 germline mutation carriers with orofacial cleft in the Dutch study for familial cancer. In France, approximately 6 % of registered CDH1 germline mutation carriers have an orofacial cleft [14]. Recently, the incorporation of a family history of orofacial cleft was suggested into the new HDGC-defining criteria [14].…”

Section: Introductionmentioning

confidence: 99%

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

et al. 2014

View full text Add to dashboard Cite

The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Six single nucleotide polymorphisms (SNPs) of the CDH1 gene (rs16260, rs9929218, rs7186053, rs4783573, rs16958383, and rs1801552) were genotyped using the TaqMan SNP genotyping assays in 250 patients with NSCL/P and 540 controls from the Polish population. Comparison between patient and control groups showed that the CDH1 rs1801552 variant, under the assumption of recessive model, was associated with a two-fold decrease in the risk of NSCL/P (ORTT vs CT + CC = 0.481, 95 % CI 0.281–0.824, p = 0.007). This association remained statistically significant even after the multiple testing correction. No significant associations with NSCL/P risk were found for the other five tested SNPs. We found a strong association between the cancer predisposing gene CDH1 and the risk of NSCL/P in the Polish population. This result, together with previous observations of co-occurrence of orofacial clefts and a variety of cancer types, suggests the need for replication studies testing rs1801552 in NSCL/P cohorts with a known cancer history.

show abstract

Section: Introductionmentioning

confidence: 99%

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

et al. 2014

View full text Add to dashboard Cite

show abstract

“…For example, in the paper by Ghoumid et al 4 , the mother of a BCD case died at the age of 35 of gastric cancer, most likely of the diffuse type, while CLP has been reported in at least six HDGC families so far. 6,13,14 Admittedly, four out of five CDH1 families reported by Ghoumid et al 4 had no history of DGC, and this is why the authors do not envisage risk-reducing gastrectomies at this stage. I would like to emphasize, however, that one of the mutations had occurred de novo in the proband, explaining at least in part this lack of family history.…”

mentioning

confidence: 87%

CDH1 germline mutations: different syndromes, same management?

Benusiglio

2017

Genetics in Medicine

View full text Add to dashboard Cite

“…Thus, they may contribute to the sorting of heterogeneous cell types. Mutations in CDH1 , one of the cadherin family genes, is known to be involved in cleft lip and palate [25]. Moreover, it has been proved that the cadherins are involved in murine palatal development [26].…”

Section: Discussionmentioning

confidence: 99%

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Szczałuba¹,

Nowakowska²,

Sobecka³

et al. 2015

Neonatology

View full text Add to dashboard Cite

Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted. Due to unspecific clinical picture at this age, it can also be applied to neonates with isolated anomalies. Our purpose was to assess utility of array comparative genomic hybridization in the population of newborns with isolated cleft lip and palate. We conducted the study in a group of 52 Polish newborns with apparently isolated cleft lip and palate. In the study group, we found 8 rearrangements. Of these, 2 de novo events have been noted that potentially explain the phenotype. In addition, 2 novel candidate genes for cleft lip and palate, CHN2 and CDH19, are suggested. Given the high number of inherited potentially benign changes, we question the clinical utility of array comparative genomic hybridization in the newborn population with isolated cleft lip and palate, at the same time pointing to the need of skilled professional's clinical assessment at a later age. However, the value of this technology in searching for the cause of isolated anomalies cannot be underestimated.

show abstract

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1

Cited by 36 publications

References 5 publications

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

CDH1 germline mutations: different syndromes, same management?

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Contact Info

Product

Resources

About