Lista de obras -

A guide for functional analysis of BRCA1 variants of uncertain significance

artículo científico publicado en 2012

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

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

artículo científico publicado en 2007

Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families

artículo científico publicado en 2019

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

artículo científico publicado en 2020

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

artículo científico publicado en 2019

An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

artículo científico publicado en 2019

Association of ESR1 gene tagging SNPs with breast cancer risk

artículo científico publicado en 2009

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

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

artículo científico publicado en 2020

Fasting mimicking diet as an adjunct to neoadjuvant chemotherapy for breast cancer in the multicentre randomized phase 2 DIRECT trial

artículo científico publicado en 2020

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

artículo científico publicado en 2009

Frequent homologous recombination deficiency in high-grade endometrial carcinomas

article

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

scientific article published on 22 November 2019

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

artículo científico publicado en 2013

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

artículo científico publicado en 2020

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

artículo científico publicado en 2010

Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

scientific article published on 06 September 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

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

artículo científico publicado en 2022

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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 RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas

artículo científico publicado en 2020

The functional impact of variants of uncertain significance in BRCA2

scientific article published on 10 July 2018

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

artículo científico publicado en 2019

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

artículo científico publicado en 2020

Lista de obras de

A guide for functional analysis of BRCA1 variants of uncertain significance

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

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Association of ESR1 gene tagging SNPs with breast cancer risk

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

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

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

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

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

Fasting mimicking diet as an adjunct to neoadjuvant chemotherapy for breast cancer in the multicentre randomized phase 2 DIRECT trial

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

Frequent homologous recombination deficiency in high-grade endometrial carcinomas

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

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

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

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

Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

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

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

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

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 RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas

The functional impact of variants of uncertain significance in BRCA2

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation