Lista de obras - Jacopo Azzollini - Dominio Público Uruguay

A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project

artículo científico publicado en 2015

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

scientific article published on 08 April 2020

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

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

artículo científico publicado en 2022

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

artículo científico publicado en 2015

Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2014

Constitutive Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

artículo científico publicado en 2019

Contribution of Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

article

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

artículo científico publicado en 2013

Corrigendum to ``Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition'' [Cancer Genet. 221(2018) 38-45]

scientific article published on 29 June 2018

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

artículo científico publicado en 2015

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 characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

artículo científico publicado en 2014

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

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

scientific article published on 18 May 2020

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

artículo científico publicado en 2013

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

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations

artículo científico publicado en 2018

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

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

scientific article published on 24 January 2019

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

artículo científico publicado en 2013

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

artículo científico publicado en 2012

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

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

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

artículo científico publicado en 2017

Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition

artículo científico publicado en 2017

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

scientific article published on 01 November 2019

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

artículo científico publicado en 2016

Lista de obras de Jacopo Azzollini

A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

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.

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

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Constitutive Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

Contribution of Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

Corrigendum to ``Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition'' [Cancer Genet. 221(2018) 38-45]

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.

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

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

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 characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

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

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

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

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations

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

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

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

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

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

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

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

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

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

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition

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

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.