Lista de obras - Sylvie Mazoyer - Dominio Público Uruguay

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

artículo científico publicado en 1997

A BRCA1 Nonsense Mutation Causes Exon Skipping ⬇️

artículo científico publicado el 1 de marzo de 1998

A gene (DLG2) located at 17q12-q21 encodes a new homologue of the Drosophila tumor suppressor dIg-A

artículo científico publicado en 1995

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

artículo científico publicado en 2010

A missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21

artículo científico publicado en 1994

A polymorphic stop codon in BRCA2

scientific article published on 01 November 1996

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

artículo científico publicado en 2000

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

artículo científico publicado en 2012

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

artículo científico publicado en 2003

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

artículo científico publicado en 2012

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

artículo científico publicado en 2003

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

artículo científico publicado en 2020

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

scientific article published on 01 May 2001

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

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.

artículo científico publicado en 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

artículo científico publicado en 2011

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

Common 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

artículo científico publicado en 2012

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

artículo científico publicado en 2008

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

artículo científico publicado en 2010

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Detailed deletion mapping of chromosome segment 17q12-21 in sporadic breast tumours

artículo científico publicado en 1994

Differential expression and subcellular localization of murine BRCA1 and BRCA1-delta 11 isoforms in murine and human cell lines

artículo científico publicado en 2000

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

artículo científico publicado en 2013

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot

artículo científico publicado en 2002

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

artículo científico publicado en 2008

Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers.

artículo científico publicado en 2011

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

artículo científico publicado en 2012

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

artículo científico publicado en 2014

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2010

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

article

Familial ovarian carcinoma: pedigree studies and preliminary results from linkage analysis

scientific article published on 01 February 1993

Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.

artículo científico publicado en 1994

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Five distinct deleted regions on chromosome 17 defining different subsets of human primary breast tumors

scientific article published on 01 November 1995

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

GENESIS: a French national resource to study the missing heritability of breast cancer

artículo científico publicado en 2016

Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

artículo científico publicado en 2020

Genetic heterogeneity of early-onset familial breast cancer

artículo científico publicado en 1992

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Genomic rearrangements in the BRCA1 and BRCA2 genes.

artículo científico publicado en 2005

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

article

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

artículo científico publicado en 2012

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

artículo científico publicado en 1996

High incidence of mammary intraepithelial neoplasia development in Men1-disrupted murine mammary glands.

artículo científico publicado en 2013

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

artículo científico publicado en 1996

Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

artículo científico publicado en 1993

Localisation of the breast-ovarian cancer susceptibility gene (BRCAI) on 17q12–21 to an interval of IcM

article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutation analysis of PALB2 gene in French breast cancer families

article

Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study

artículo científico publicado en 2016

Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

artículo científico publicado en 1997

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

artículo científico publicado en 2019

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

artículo científico publicado en 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 February 2020

Occurrence of a non deleterious gene conversion event in the BRCA1 gene.

artículo científico publicado en 2015

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers.

artículo científico publicado en 2005

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

artículo científico publicado en 2004

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

artículo científico publicado en 2016

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

artículo científico publicado en 1999

Screening of inherited breast cancer with DNA markers

artículo científico publicado en 1993

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

artículo científico publicado en 2004

Sublocalization of smallest common regions of deletion on chromosome 17q12-q23 in sporadic primary breast-tumors

artículo científico publicado en 1995

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

artículo científico publicado en 2015

The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon

scientific article published on 01 October 2006

The BRCA1 exon 13 duplication in the Swedish population

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

artículo científico publicado en 2006

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

scientific article published on 01 November 2002

The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

artículo científico publicado en 2011

Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations

artículo científico publicado en 1994

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

artículo científico publicado en 2013

[Hereditary predisposition for cancer of the breast and the ovary]

scientific article published on 01 October 1993

Lista de obras de Sylvie Mazoyer

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

A BRCA1 Nonsense Mutation Causes Exon Skipping ⬇️

A gene (DLG2) located at 17q12-q21 encodes a new homologue of the Drosophila tumor suppressor dIg-A

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

A missense variant within BRCA1 exon 23 causing exon skipping

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21

A polymorphic stop codon in BRCA2

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

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.

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Common 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 variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Detailed deletion mapping of chromosome segment 17q12-21 in sporadic breast tumours

Differential expression and subcellular localization of murine BRCA1 and BRCA1-delta 11 isoforms in murine and human cell lines

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers.

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Exploring the link between MORF4L1 and risk of breast cancer

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Familial ovarian carcinoma: pedigree studies and preliminary results from linkage analysis

Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Five distinct deleted regions on chromosome 17 defining different subsets of human primary breast tumors

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

GENESIS: a French national resource to study the missing heritability of breast cancer

Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

Genetic heterogeneity of early-onset familial breast cancer

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Genomic rearrangements in the BRCA1 and BRCA2 genes.

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

High incidence of mammary intraepithelial neoplasia development in Men1-disrupted murine mammary glands.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

Localisation of the breast-ovarian cancer susceptibility gene (BRCAI) on 17q12–21 to an interval of IcM