Lista de obras - Sandrine Caputo - Dominio Público Uruguay

"Decoding hereditary breast cancer" benefits and questions from multigene panel testing

scientific article published on 08 January 2019

A guide for functional analysis of BRCA1 variants of uncertain significance

artículo científico publicado en 2012

A missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

artículo científico publicado en 2017

BRCA Share: A Collection of Clinical BRCA Gene Variants

artículo científico publicado en 2016

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

artículo científico publicado en 2015

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

artículo científico publicado en 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

artículo científico publicado en 2018

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

artículo científico publicado en 2011

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

artículo científico publicado en 2018

Functional assays for analysis of variants of uncertain significance in BRCA2.

artículo científico publicado en 2013

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

HRness in Breast and Ovarian Cancers

artículo científico publicado en 2020

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

Involvement of the FOXO6 transcriptional factor in breast carcinogenesis.

artículo científico publicado en 2017

Is BRCA2 involved in early onset colorectal cancer risk?

artículo científico publicado en 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation ⬇️

artículo científico publicado el 7 de septiembre de 2012

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

NMR assignment of region 655-775 of human MAN1

scientific article published on 01 January 2006

Non-Coding Variants in and Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

article

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

artículo científico publicado en 2018

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

artículo científico publicado en 2012

S1 ribosomal protein functions in translation initiation and ribonuclease RegB activation are mediated by similar RNA-protein interactions: an NMR and SAXS analysis.

artículo científico publicado en 2008

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

artículo científico publicado en 2020

Structural Analysis of the Smad2−MAN1 Interaction That Regulates Transforming Growth Factor-β Signaling at the Inner Nuclear Membrane

article

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

artículo científico publicado en 2017

The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain

scientific article published on 28 April 2006

The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis

artículo científico publicado en 2020

Lista de obras de Sandrine Caputo

"Decoding hereditary breast cancer" benefits and questions from multigene panel testing

A guide for functional analysis of BRCA1 variants of uncertain significance

A missense variant within BRCA1 exon 23 causing exon skipping

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

BRCA Share: A Collection of Clinical BRCA Gene Variants

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

Functional assays for analysis of variants of uncertain significance in BRCA2.

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

HRness in Breast and Ovarian Cancers

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Involvement of the FOXO6 transcriptional factor in breast carcinogenesis.

Is BRCA2 involved in early onset colorectal cancer risk?

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation ⬇️

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

NMR assignment of region 655-775 of human MAN1

Non-Coding Variants in and Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

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

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

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

S1 ribosomal protein functions in translation initiation and ribonuclease RegB activation are mediated by similar RNA-protein interactions: an NMR and SAXS analysis.

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Structural Analysis of the Smad2−MAN1 Interaction That Regulates Transforming Growth Factor-β Signaling at the Inner Nuclear Membrane

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain

The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis