Lista de obras - Laura Ottini - Dominio Público Uruguay

A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?

article

A novel BRCA2 splice variant identified in a young woman

artículo científico publicado en 2020

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

artículo científico publicado en 2017

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 between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy

artículo científico publicado en 2007

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

artículo científico publicado en 2019

BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy.

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy

article

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 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

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

article

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

artículo científico publicado en 2014

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

article

EMSY copy number variation in male breast cancers characterized for BRCA1 and BRCA2 mutations

artículo científico publicado en 2016

Eicosapentaenoic acid induces DNA demethylation in carcinoma cells through a TET1-dependent mechanism

scientific article published on 14 May 2018

ErbB-receptors expression and survival in breast carcinoma: A 15-year follow-up study

article by Simonetta Bianchi et al published 2005 in Journal of Cellular Physiology

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

scientific article published on 01 August 2019

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

Gastric cancer with high-level microsatellite instability: target gene mutations, clinicopathologic features, and long-term survival

artículo científico publicado en 2008

Gene promoter methylation and DNA repair capacity in monozygotic twins with discordant smoking habits

artículo científico publicado en 2015

Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Genome-wide expression profile of sporadic gastric cancers with microsatellite instability

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 novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data

artículo científico publicado en 2019

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

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

MRE11 expression is impaired in gastric cancer with microsatellite instability.

artículo científico publicado en 2004

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 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

Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile

artículo científico publicado en 2018

MiRNAs as Potential Prognostic Biomarkers for Metastasis in Thin and Thick Primary Cutaneous Melanomas

artículo científico publicado en 2019

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer

article

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

artículo científico publicado en 2015

Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy

artículo científico publicado en 2015

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

artículo científico publicado en 2018

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2011

Polymorphic DNA repair and metabolic genes: a multigenic study on gastric cancer

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity

artículo científico publicado en 2017

Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.

artículo científico publicado en 2017

SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?

artículo científico publicado en 2013

Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy

article

Smyd3 open & closed lock mechanism for substrate recruitment: The hinge motion of C-terminal domain inferred from μ-second molecular dynamics simulations

scientific article published on 13 April 2016

Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.

scientific article published on 27 September 2016

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

scientific article published on 01 November 2019

The antiquity of hydrocephalus: the first full palaeo-neuropathological description

scientific article published on 23 November 2018

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 Laura Ottini

A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?

A novel BRCA2 splice variant identified in a young woman

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

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 between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy

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

BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy.

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

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

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)

Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy

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

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

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

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

EMSY copy number variation in male breast cancers characterized for BRCA1 and BRCA2 mutations

Eicosapentaenoic acid induces DNA demethylation in carcinoma cells through a TET1-dependent mechanism

ErbB-receptors expression and survival in breast carcinoma: A 15-year follow-up study

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

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

Gastric cancer with high-level microsatellite instability: target gene mutations, clinicopathologic features, and long-term survival

Gene promoter methylation and DNA repair capacity in monozygotic twins with discordant smoking habits

Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers.

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

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

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

Genome-wide expression profile of sporadic gastric cancers with microsatellite instability

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 novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

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

MRE11 expression is impaired in gastric cancer with microsatellite instability.

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

Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile

MiRNAs as Potential Prognostic Biomarkers for Metastasis in Thin and Thick Primary Cutaneous Melanomas

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer

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

Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.

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

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Polymorphic DNA repair and metabolic genes: a multigenic study on gastric cancer

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

Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity

Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.

SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?

Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy

Smyd3 open & closed lock mechanism for substrate recruitment: The hinge motion of C-terminal domain inferred from μ-second molecular dynamics simulations

Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.

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

The antiquity of hydrocephalus: the first full palaeo-neuropathological description

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