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Lista de obras de Alessandra Viel

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

artículo científico publicado en 2017

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

article

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

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy

article

A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations

artículo científico publicado en 2007

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

artículo científico publicado en 2017

APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation

artículo científico publicado en 2012

Activation by point mutation of Ki-ras gene occurring in transfected human normal DNA.

artículo científico publicado en 1988

Aetiology of colorectal cancer and relevance of monogenic inheritance

artículo científico publicado en 2004

An American founder mutation in MLH1.

artículo científico publicado en 2011

An intronic mutation in MLH1 associated with familial colon and breast cancer.

artículo científico publicado en 2011

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

artículo científico publicado en 2006

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

article

Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients

artículo científico publicado en 2010

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

artículo científico publicado en 2019

Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.

artículo científico publicado en 2013

Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.

artículo científico publicado en 2016

BRCA1 andBRCA2 genes: Role in hereditary breast and ovarian cancer in Italy

artículo científico publicado en 1999

BRCA1 modulates the expression of hnRNPA2B1 and KHSRP.

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2022

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

artículo científico publicado en 1998

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

scientific article published on 01 January 1997

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 biologic heterogeneity of hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2001

Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.

artículo científico publicado en 2012

Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.

artículo científico publicado en 2012

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 and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

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 genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Concomitant IDH-wildtype glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

artículo científico publicado en 2017

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family

artículo científico publicado en 2015

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

artículo científico publicado en 2010

Correlation between chromosome 5q deletions and different mechanisms of c-myc overexpression in human colorectal cancer.

artículo científico publicado en 1991

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

artículo científico publicado en 2014

Deep sequencing of the X chromosome reveals the proliferation history of colorectal adenomas

artículo científico publicado en 2014

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

article

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

artículo científico publicado en 2002

Disruption of the APC gene by t(5;7) translocation in a Turcot family.

artículo científico publicado en 2015

Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer

artículo científico

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

artículo científico publicado en 2009

Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer

artículo científico publicado en 1999

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

artículo científico publicado en 2004

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.

artículo científico publicado en 2001

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

Expression of glutathione-S-transferase-pi in human tumours.

artículo científico publicado en 1992

Expression of the mdr1 gene in human colorectal carcinomas: relationship with multidrug resistance inferred from analysis of human colorectal carcinoma cell lines

artículo científico publicado en 1992

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

Factors affecting the treatment of multiple colorectal adenomas

artículo científico publicado en 2012

Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases

artículo científico publicado en 2005

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

Frequent occurrence of Ha-rasl allelic deletion in human ovarian adenocarcinomas

artículo científico publicado en 1991

Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene

artículo científico publicado en 2014

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2013

Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts

article

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

article

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

artículo científico publicado en 2006

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

artículo científico publicado en 2007

Ha-ras-1 restriction fragment length polymorphism and susceptibility to colon adenocarcinoma

artículo científico publicado en 1987

Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis

artículo científico publicado en 1999

High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability

artículo científico publicado en 1999

Homocysteine accumulation in human ovarian carcinoma ascitic/cystic fluids possibly caused by metabolic alteration of the methionine cycle in ovarian carcinoma cells

artículo científico publicado en 1997

Human MRE11 is inactivated in mismatch repair-deficient cancers

artículo científico publicado en 2002

Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group

artículo científico publicado en 2007

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

In K562 leukemia cells treated with doxorubicin and hemin, a decrease in c-myc mRNA expression correlates with loss of self-renewal capability but not with erythroid differentiation

artículo científico publicado en 1989

Integrated analysis of unclassified variants in mismatch repair genes

article

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

artículo científico publicado en 2015

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.

artículo científico publicado en 1998

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

artículo científico publicado en 2019

Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

artículo científico publicado en 2012

Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer

article

Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer.

artículo científico publicado en 1998

MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with microsatellite instability

artículo científico publicado en 2005

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

Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers

artículo científico publicado en 2006

Microsatellite instability and MLH1 and MSH2 germline defects are related to clinicopathological features in sporadic colorectal cancer

scientific article published on 01 January 2000

Microsatellite instability and high content of activated cytotoxic lymphocytes identify colon cancer patients with a favorable prognosis

artículo científico publicado en 2001

Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

Molecular mechanisms possibly affecting WT1 function in human ovarian tumors

artículo científico publicado en 1994

Mood state profile and coping strategies after BRCA-1/2 genetic test disclosure: a retrospective study in Italy

artículo científico publicado en 2011

Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability

artículo científico publicado en 2004

N-myc activation by proviral insertion in MCF 247-induced murine T-cell lymphomas.

artículo científico publicado en 1989

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

Nuclear oncogene amplification or rearrangement is not involved in human colorectal malignancies

artículo científico publicado en 1988

P-glycoprotein but not topoisomerase II and glutathione-S-transferase-pi accounts for enhanced intracellular drug-resistance in LoVo MDR human cell lines

artículo científico publicado el 30 de junio de 1992

Pathogenesis of malignant lymphomas in intravenous drug-abuser, HIV-infected patients

article

Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations

artículo científico publicado en 2004

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics

artículo científico publicado en 2013

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

artículo científico publicado en 2006

Pleiotropic-resistant phenotype is a multifactorial phenomenon in human colon carcinoma cell lines

artículo científico publicado en 1991

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

artículo científico publicado en 2017

Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers.

artículo científico publicado en 2009

Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.

artículo científico publicado en 2002

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

artículo científico publicado en 2004

Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations

article

Proximal colon cancer in patients aged 51–60 years of age should be tested for microsatellites instability. A comment on the Revised Bethesda Guidelines

artículo científico publicado en 2008

Recommendations for the molecular diagnosis of familial adenomatous polyposis.

artículo científico publicado en 1997

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

Reply to Jaskowski et al

Role of MUTYH in human cancer

artículo científico publicado en 2013

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers

artículo científico publicado en 2009

Sensitivity pattern of normal and Ha-ras transformed NIH3T3 fibroblasts to antineoplastic drugs.

artículo científico publicado en 1989

Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 1998

Soft tissue sarcoma and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome: formulation of an hypothesis.

artículo científico

Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.

artículo científico publicado en 2017

Somatic mosaicism in a patient with Lynch syndrome

artículo científico publicado en 2009

Splice variant lacking the transactivation domain of theBRCA2 gene and mutations in the splice acceptor site of intron 2

article

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

Survival analysis in families affected by hereditary non-polyposis colorectal cancer

artículo científico publicado en 1997

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

artículo científico publicado en 2010

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.

artículo científico publicado en 2004

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

scientific article published on 01 November 2019

The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk

article

The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle

artículo científico publicado en 2008

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

article

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case.

artículo científico publicado en 2006

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

artículo científico publicado en 2005

Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study

artículo científico publicado en 2016

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

c-myc overexpression is a tumor-specific phenomenon in a subset of human colorectal carcinomas

artículo científico publicado en 1990

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