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Lista de obras de Paolo Radice

11q13 is a susceptibility locus for hormone receptor positive breast cancer

artículo científico publicado en 2012

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

artículo científico publicado en 2012

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

artículo científico publicado en 2012

A BRCA1 promoter variant (rs11655505) and breast cancer risk

artículo científico publicado en 2010

A Panel of Sequence Tagged Sites for Chromosome Band 11q23

artículo científico publicado en 1993

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

artículo científico publicado en 2012

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene

artículo científico publicado en 2006

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

artículo científico publicado en 2013

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 major susceptibility locus to murine lung carcinogenesis maps on chromosome 6.

artículo científico publicado en 1993

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A novel EWS-ERG rearrangement generating two hybrid mRNAs in a peripheral primitive neuroectodermal tumour (pPNET) with a t(15;22) translocation

artículo científico publicado en 1998

A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor

artículo científico publicado en 2008

A novel zinc finger gene is fused to EWS in small round cell tumor

artículo científico publicado en 2000

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

artículo científico publicado en 2017

A predictive model of metachronous colorectal cancer occurrence in Lynch syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

APC Genotype Is Not a Prognostic Factor in Familial Adenomatous Polyposis Patients With Colorectal Cancer

artículo científico publicado en 2004

Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study

artículo científico publicado en 2007

Allelotyping in Wilms Tumors Identifies a Putative Third Tumor Suppressor Gene on Chromosome 11

article

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

artículo científico publicado en 2016

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

artículo científico publicado en 2015

An unusual BRCA2 allele carrying two splice site mutations

artículo científico publicado en 2009

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

artículo científico publicado en 2008

Analysis of gene copy number variations using a method based on lab-on-a-chip technology

artículo científico publicado en 2012

Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse

artículo científico publicado en 2020

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.

artículo científico publicado en 1996

Androgen receptor CAG repeat length and estrogen receptor status in postmenopausal breast cancer prognosis

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 analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Association of SULT1A1 Arg²¹³His polymorphism with male breast cancer risk: results from a multicenter study in Italy.

artículo científico publicado en 2014

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 breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

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

artículo científico publicado en 2015

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2011

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

Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers

artículo científico publicado en 2004

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

artículo científico publicado en 2003

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

artículo científico publicado en 2008

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2015

BglII polymorphism of the epidermal growth factor receptor (EGF-R) gene

artículo científico publicado en 1988

Bilateral preaxial polydactyly in a WAGR syndrome patient.

artículo científico publicado en 2005

Body mass index and breast cancer survival: a Mendelian randomization analysis

artículo científico publicado en 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

artículo científico publicado en 2020

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

artículo científico publicado en 2022

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

artículo científico publicado en 2014

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

artículo científico publicado en 2009

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Cell surface antigens of chemically induced fibrosarcomas: detection by a monoclonal antibody of a tumor-restricted Mr 12,000 protein gag antigen encoded by a dual-tropic murine leukemia virus

artículo científico publicado en 1985

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

artículo científico publicado en 2014

Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online

artículo científico publicado en 1998

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

Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences

artículo científico publicado en 2016

Chromosomal localizations and molecular analysis of TDG gene-related sequences

artículo científico publicado en 1997

Classification of BRCA1 missense variants of unknown clinical significance

artículo científico publicado en 2005

Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex

artículo científico publicado en 2011

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

article

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements

artículo científico publicado en 2006

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

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 breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

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

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

artículo científico publicado en 2013

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

artículo científico publicado en 2014

Concurrent Pheochromocytoma, Paraganglioma, Papillary Thyroid Carcinoma, and Desmoid Tumor: A Case Report with Analyses at the Molecular Level

artículo científico publicado en 1998

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

artículo científico publicado en 2011

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

artículo científico publicado en 2010

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

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

artículo científico publicado en 2008

Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis

artículo científico publicado en 2007

Cyclooxygenase-2 expression in FAP patients carrying germ line MYH mutations.

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

artículo científico publicado en 2018

Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method

artículo científico publicado en 2001

Detection of two TaqI polymorphisms in the VTR region of the human HRAS1 oncogene

artículo científico publicado en 1986

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

artículo científico publicado en 2007

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

article

Different genetic features associated with colon and rectal carcinogenesis.

artículo científico publicado en 2004

Distinct breakpoints in band 11q23 of the t(4;11) and t(11;14) associated with leukocyte malignancy

artículo científico publicado en 1992

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

artículo científico publicado en 2011

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

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

artículo científico publicado en 2015

Estrogen Receptor-Beta Expression in Hereditary Breast Cancer

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 SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases

artículo científico publicado en 2010

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

artículo científico publicado en 2013

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 copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

artículo científico publicado en 2011

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

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

artículo científico publicado en 2014

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases

artículo científico publicado en 2008

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

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

artículo científico publicado en 2014

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

artículo científico publicado en 2011

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

artículo científico publicado en 2016

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

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

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

artículo científico publicado en 2013

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

artículo científico publicado en 2013

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

artículo científico publicado en 2010

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

artículo científico publicado en 1998

Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors

artículo científico publicado en 2008

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

article

Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of in Wilms tumour susceptibility

Genetic evidence for an independent origin of multiple preneoplastic and neoplastic lung lesions.

artículo científico publicado en 1995

Genetic predisposition to ductal carcinoma in situ of the breast

artículo científico publicado en 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

artículo científico publicado en 2014

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

artículo científico publicado en 2014

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

artículo científico publicado en 2015

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

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

article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

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

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

artículo científico publicado en 2019

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse

artículo científico publicado en 2012

Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis. Hereditary Colorectal Tumors Registry

artículo científico publicado en 2000

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis

scientific article published on 01 March 2001

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

artículo científico publicado en 2012

Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

artículo científico publicado en 2007

Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.

artículo científico publicado en 2004

Germline mutations ofAXIN2are not associated with nonsyndromic colorectal cancer

artículo científico publicado en 2005

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

artículo científico publicado en 2021

HMGA1 protein expression in familial breast carcinoma patients

artículo científico publicado en 2009

HRAS1 proto-oncogene polymorphisms in human malignant melanoma: TaqI defined alleles significantly associated with the disease

artículo científico publicado en 1987

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2

artículo científico publicado en 2016

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

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

Homozygous intragenic loss of the WT1 locus in a sporadic intralobar wilms' tumor

artículo científico publicado en 1993

Human TRK proto-oncogene maps to chromosome 1q32-q41

artículo científico publicado en 1990

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Identification of a novel disease-associated variant in the BRCA1 3’UTR that introduces a functional miR-103 target site

artículo científico publicado en 2012

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

artículo científico publicado en 2012

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

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 novel genetic markers of breast cancer survival

artículo científico publicado en 2015

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

Ileorectal anastomosis in patients with familial adenomatous polyposis

artículo científico publicado en 2001

Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature

artículo científico publicado en 2006

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

artículo científico publicado en 2022

Increased frequency of disease-causing MYH mutations in colon cancer families.

artículo científico publicado en 2006

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

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

artículo científico publicado en 2015

Integration and Expression of Mcf-13 Provirus in Mcf-13-Induced Lymphomas ⬇️

artículo científico publicado el 31 de diciembre de 1984

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms

artículo científico publicado en 2013

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

Is WTX a suitable target for cancer therapy?

artículo científico publicado en 2010

Is Wilms tumor a candidate neoplasia for treatment with WNT/β-catenin pathway modulators?--A report from the renal tumors biology-driven drug development workshop

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

artículo científico publicado en 2013

Loss of heterozygosity analysis at different chromosome regions in Wilms tumor confirms 1p allelic loss as a marker of worse prognosis: a study from the Italian Association of Pediatric Hematology and Oncology

artículo científico publicado en 2012

Loss of heterozygosity in human germinal tumors

scientific article published on 01 January 1989

Loss of polymorphic restriction fragments of class I and class II MHC genes in a malignant melanoma

artículo científico publicado en 1986

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells

artículo científico publicado en 2005

Lynch syndrome--related endometrial carcinomas show a high frequency of nonendometrioid types and of high FIGO grade endometrioid types

artículo científico publicado en 2009

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

Mapping of a Putative Tumor Suppressor Locus to Proximal 7p in Wilms Tumors

artículo científico publicado en 1996

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

artículo científico publicado en 1997

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

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

artículo científico publicado en 2021

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Methylation of O6-methylguanine-DNA methyltransferase (MGMT) promoter gene in triple-negative breast cancer patients.

artículo científico publicado en 2012

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Microsatellite instability in colorectal-cancer patients with suspected genetic predisposition

artículo científico publicado en 2000

Misbehaviour of XIST RNA in breast cancer cells

artículo científico publicado en 2009

Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome

scientific article published on 01 September 2008

Molecular genetics of hereditary non-polyposis colorectal cancer (HNPCC).

artículo científico publicado en 1996

Monoclonal antibodies against NIH 3T3 cells transformed by human thyroid carcinoma DNA.

artículo científico publicado en 1988

Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.

artículo científico publicado en 2003

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

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

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.

artículo científico publicado en 1998

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

artículo científico publicado en 2015

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women.

artículo científico publicado en 2010

No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with Denys-Drash syndrome

artículo científico publicado en 1998

Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case

artículo científico publicado en 2007

Nonfluorescent denaturing HPLC-based primer-extension method for allele-specific expression: application to analysis of mismatch repair genes

artículo científico publicado en 2009

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

Onco-suppressor genes in human cancer

artículo científico publicado en 1989

Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis

artículo científico publicado en 2010

Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group

artículo científico publicado en 1998

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

artículo científico publicado en 2012

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

artículo científico publicado en 2010

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

article

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

artículo científico publicado en 2016

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

artículo científico publicado en 2017

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

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

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

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

artículo científico publicado en 2015

Prediction and assessment of splicing alterations: implications for clinical testing

artículo científico publicado en 2008

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Prediction of breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

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

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

artículo científico publicado en 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families

article

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

RFLP for TaqI of the human thyroid papillary carcinoma (PTC) oncogene

artículo científico publicado en 1988

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Re: Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.

artículo científico publicado en 2008

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

artículo científico publicado en 2016

Recommendations for the molecular diagnosis of familial adenomatous polyposis.

artículo científico publicado en 1997

Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis

artículo científico publicado en 2008

Recurrent germline mutation in MSH2 arises frequently de novo

artículo científico publicado en 2000

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

Refined localization to contiguous regions on chromosome 10q of the two genes (H4 and RET) that form the oncogenic sequence PTC

artículo científico publicado en 1991

Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours

artículo científico publicado en 2001

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

artículo científico publicado en 2009

Response: Table 1

article by Amanda B. Spurdle et al published 31 August 2016 in Journal of the National Cancer Institute

Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development

artículo científico publicado en 2016

SNPs in ultraconserved elements and familial breast cancer risk

artículo científico publicado en 2009

SacI identifies an additional RFLP at the D11S12 locus

artículo científico publicado en 1991

Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test

artículo científico publicado en 1996

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation

scientific article published on 01 January 1999

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

artículo científico publicado en 2012

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Survival of patients with hereditary colorectal cancer: comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer

artículo científico publicado en 1999

TaqI RFLP of the human tropomyosin gene (TPM3) involved in the generation of the TRK oncogene

artículo científico publicado en 1991

Telomere maintenance in Wilms tumors: first evidence for the presence of alternative lengthening of telomeres mechanism.

artículo científico publicado en 2011

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

artículo científico publicado en 2008

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

artículo científico publicado en 2008

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

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 IGF signalling pathway in Wilms tumours--a report from the ENCCA Renal Tumours Biology-driven drug development workshop

artículo científico publicado en 2014

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

artículo científico publicado en 2016

The SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians

article

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

scientific article published on 26 January 2020

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

The coatomer protein delta-COP, encoded by the archain gene, is conserved across diverse eukaryotes

artículo científico publicado en 1996

The human archain gene, ARCN1, has highly conserved homologs in rice and Drosophila

artículo científico publicado en 1995

The human tropomyosin gene involved in the generation of the TRK oncogene maps to chromosome 1q31

artículo científico publicado en 1991

The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors

artículo científico publicado en 2006

The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases

artículo científico publicado en 2008

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

artículo científico publicado en 2011

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

article

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

artículo científico publicado en 2019

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

Two RFLPs generated by Taq I at the human HRAS1 locus

artículo científico publicado en 1986

Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations

artículo científico publicado en 2011

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability

artículo científico publicado en 2010

Unclassified variants in BRCA genes: guidelines for interpretation

article

WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities

artículo científico publicado en 2005

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

artículo científico publicado en 2013

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

Wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report

artículo científico publicado en 2005

X chromosome inactivation pattern in BRCA gene mutation carriers

artículo científico publicado en 2012

miR-342 regulates BRCA1 expression through modulation of ID4 in breast cancer

artículo científico publicado en 2014

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

artículo científico publicado en 2016

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