0000000000109273
AUTHOR
L. Faivre
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018; International audience
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
<p>Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism.</p>\ud \ud <p>Methods: We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predicti…
Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes
International audience
Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene
International audience
Cutaneous mosaic syndromes associated with early postzygotic activating BRAF mutations
IF 3.528; International audience
P09.084C - Strong interest of exome sequencing in progressive neurological diseases
International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the evolution (cerebellar ataxia, tremor, dystonia...). In molecular diagnosis, current strategies usually include sequential investigations that may lead to long, tedious, expensive and disappointing patients care. Exome sequencing (ES) appears a promising approach for neurogenetics, apart from when nucleotide motif expansion disorders can be suspected. Materials and Methods: We recruited 48 individuals without cognitive development impairment, ref…
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…