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B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI
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A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
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hal-04884707
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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
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Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
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hal-04021151
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Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex
Fatimat Almentina Ramos Shidi
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hal-03913654
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Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility
Christine Lonjou
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hal-03345363
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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Maximiliano Ribeiro Guerra
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5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
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hal-04808437
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants
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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Maximiliano Ribeiro Guerra
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
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New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
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GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
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GENESIS: a French national resource to study the missing heritability of breast cancer
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Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study
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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2
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Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing
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hal-02045532
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
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BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
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Exploring the link between MORF4L1 and risk of breast cancer.
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
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Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers.
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hal-00814005
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Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
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hal-00698405
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
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hal-00790211
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
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inserm-00706872
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The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
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Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
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Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
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The contribution of germline rearrangements to the spectrum of <i>BRCA2</i> mutations
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Breast cancer risk in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers and polyglutamine repeat length in the <i>AIB1</i> gene
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