about
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersIsolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21A gene (DLG2) located at 17q12-q21 encodes a new homologue of the Drosophila tumor suppressor dIg-ACommon breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskA physical map and candidate genes in the BRCA1 region on chromosome 17q12-21Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsIdentification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Differential expression and subcellular localization of murine BRCA1 and BRCA1-delta 11 isoforms in murine and human cell lines.Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues.Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersCommon genetic variants and modification of penetrance of BRCA2-associated breast cancerExploring the link between MORF4L1 and risk of breast cancer.Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersReal-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.Genomic rearrangements in the BRCA1 and BRCA2 genes.Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers.Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.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 populationLinkage analysis of 19 French breast cancer families, with five chromosome 17q markers.Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersCommon variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.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.Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
P50
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P50
description
hulumtuese
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հետազոտող
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name
Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Mazoyer S
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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Sylvie Mazoyer
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P106
P21
P31
P496
0000-0002-2135-0160