Lista de obras -

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

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 germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

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

artículo científico publicado en 2015

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

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

artículo científico publicado en 2015

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility

scientific article published on 25 July 2019

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

scientific article published on 22 May 2019

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Cancer Risks Associated With and Pathogenic Variants

artículo científico publicado en 2022

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2020

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

artículo científico publicado en 2021

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

scientific article published on 29 April 2019

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

artículo científico publicado en 2021

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

artículo científico

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

artículo científico publicado en 2021

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

artículo científico publicado en 2018

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

artículo científico publicado en 2022

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

artículo científico publicado en 2021

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

artículo científico publicado en 2014

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)

scientific article published on 03 December 2020

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers

artículo científico publicado en 2019

Lista de obras de

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Association analysis identifies 65 new breast cancer risk loci.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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 germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

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

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

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

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Cancer Risks Associated With and Pathogenic Variants

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial

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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Genome-wide association study of germline variants and breast cancer-specific mortality

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

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

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

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

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

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

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

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

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

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers