Lista de obras - Laura Papi - Dominio Público Uruguay

A PALB2 germline mutation associated with hereditary breast cancer in Italy

article

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

artículo científico publicado en 2015

A kindred with MYH-associated polyposis and pilomatricomas

artículo científico publicado en 2005

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

artículo científico publicado en 2017

A new polymorphism in theretprotooncogene (RET) ⬇️

artículo científico publicado el 25 de octubre de 1991

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

artículo científico publicado en 2017

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2005

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Application of COLD-PCR for improved detection of NF2 mosaic mutations

artículo científico publicado en 2014

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

artículo científico publicado en 2016

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

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

artículo científico publicado en 2014

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

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

Creation of an international registry to support discovery in schwannomatosis.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

artículo científico publicado en 2017

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes

artículo científico publicado en 2020

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

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

artículo científico publicado en 2017

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection

artículo científico publicado en 2017

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

artículo científico publicado en 2008

Expanding the mutational spectrum of LZTR1 in schwannomatosis

artículo científico publicado en 2014

Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus

artículo científico publicado en 1997

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

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

artículo científico publicado en 2007

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy

article

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 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

artículo científico publicado en 2013

Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast–ovarian cancer syndromes: a case report

article

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

artículo científico publicado en 2017

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

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

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner

artículo científico publicado en 2008

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

artículo científico publicado en 2019

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis

artículo científico publicado en 2012

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events ⬇️

artículo científico publicado en 2013

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

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables ⬇️

artículo científico publicado el 1 de agosto de 1997

Multiple spinal ganglioneuromas in a patient harboring a pathogenicNF1mutation

artículo científico publicado en 2009

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

artículo científico publicado en 2018

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis

artículo científico publicado en 2008

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

artículo científico publicado en 2014

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

artículo científico publicado en 2012

PALB2 mutations in male breast cancer: a population-based study in Central Italy

article

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

artículo científico publicado en 2020

Premature ovarian failure and fragile X premutation: a study on 45 women

scientific article published on 01 February 2004

Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers

artículo científico publicado en 1999

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

Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers

artículo científico publicado en 2005

Reply to Jaskowski et al

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

artículo científico publicado en 2015

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

artículo científico publicado en 1996

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas

artículo científico publicado en 1995

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion

Susceptibility to Refractory Ulcerative Colitis Is Associated with Polymorphism in the hMLH1 Mismatch Repair Gene

article

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

artículo científico publicado en 2010

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

artículo científico publicado en 2005

Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil

article published in 2011

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

artículo científico publicado en 2013

Lista de obras de Laura Papi

A PALB2 germline mutation associated with hereditary breast cancer in Italy

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

A kindred with MYH-associated polyposis and pilomatricomas

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

A new polymorphism in theretprotooncogene (RET) ⬇️

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Application of COLD-PCR for improved detection of NF2 mosaic mutations

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

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.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

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

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

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

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

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)

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

Creation of an international registry to support discovery in schwannomatosis.

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

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

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

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy

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

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

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

Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast–ovarian cancer syndromes: a case report

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

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner

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

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events ⬇️

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

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables ⬇️

Multiple spinal ganglioneuromas in a patient harboring a pathogenicNF1mutation

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

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

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

PALB2 mutations in male breast cancer: a population-based study in Central Italy

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

Premature ovarian failure and fragile X premutation: a study on 45 women

Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers

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

Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers

Reply to Jaskowski et al

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion

Susceptibility to Refractory Ulcerative Colitis Is Associated with Polymorphism in the hMLH1 Mismatch Repair Gene

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.