Lista de obras - Bernard Peissel - Dominio Público Uruguay

A Dietary Intervention to Lower Serum Levels of IGF-I in Mutation Carriers

artículo científico publicado en 2018

A cancer modifier role for parathyroid hormone-related protein

artículo científico publicado en 2000

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

artículo científico publicado en 2014

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 novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

artículo científico publicado en 1994

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

artículo científico publicado en 2015

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

artículo científico publicado en 2017

Allele-specific patterns of the mouse parathyroid hormone-related protein: influences on cell adhesion and migration

artículo científico publicado en 2003

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 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

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

artículo científico publicado en 2019

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

artículo científico publicado en 2012

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 germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

scientific article published on 30 November 2020

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Cardio-Oncology: The Carney Complex Type I.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes

scientific article published on 01 January 1995

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

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

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 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

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients

artículo científico publicado en 1995

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

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Cutaneous Melanoma in Childhood and Adolescence Shows Frequent Loss of INK4A and Gain of KIT

article

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

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

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

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 characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

artículo científico publicado en 2011

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

artículo científico publicado en 1995

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

artículo científico publicado en 2010

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

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

artículo científico publicado en 2007

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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 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

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

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

artículo científico publicado en 2018

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

artículo científico

Inhibition of both skin and lung tumorigenesis by Car-R mouse-derived cancer modifier loci

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Is there a specific magnetic resonance phenotype characteristic of hereditary breast cancer?

scientific article published on 01 May 2010

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

artículo científico publicado en 1999

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

artículo científico publicado en 2019

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families

artículo científico publicado en 1991

Linkage disequilibrium and haplotype mapping of a skin cancer susceptibility locus in outbred mice

artículo científico publicado en 2000

Loss of tyrosinase activity confers increased skin tumor susceptibility in mice

artículo científico publicado en 2004

MRI in the early detection of breast cancer in women with high genetic risk.

artículo científico publicado en 2006

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

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations

artículo científico publicado en 1993

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 screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

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

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation ⬇️

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

artículo científico publicado el 1 de junio de 1992

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia

artículo científico publicado en 1993

Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease

scientific article published on 01 October 1994

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

artículo científico publicado en 2008

Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Role of splenectomy in incidence and severity of acute graft-versus-host disease: a multicenter study of 157 patients

artículo científico publicado en 1991

SCCA2-like serpins mediate genetic predisposition to skin tumors

artículo científico publicado en 2003

SNPs in ultraconserved elements and familial breast cancer risk

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Serum levels of IGF-I and BRCA penetrance: a case control study in breast cancer families

artículo científico publicado en 2011

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

artículo científico publicado en 1994

Skeletal malformations and polycystic kidney disease.

artículo científico publicado en 1994

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

artículo científico publicado en 2017

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 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 psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2013

The role of genetic breast cancer susceptibility variants as prognostic factors

artículo científico publicado en 2012

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

article

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 novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

scientific article published on 01 September 2010

Use of intercross outbred mice and single nucleotide polymorphisms to map skin cancer modifier loci.

artículo científico publicado en 2001

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

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

Lista de obras de Bernard Peissel

A Dietary Intervention to Lower Serum Levels of IGF-I in Mutation Carriers

A cancer modifier role for parathyroid hormone-related protein

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

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

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

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

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

Allele-specific patterns of the mouse parathyroid hormone-related protein: influences on cell adhesion and migration

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

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

An unusual BRCA2 allele carrying two splice site mutations

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

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

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

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.

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

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

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

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

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

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.

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

Cardio-Oncology: The Carney Complex Type I.

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

Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes

Clinical genetic testing for familial melanoma in Italy: A cooperative study

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

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

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

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

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

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

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

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients

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

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

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

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

Cutaneous Melanoma in Childhood and Adolescence Shows Frequent Loss of INK4A and Gain of KIT

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

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

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

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

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

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.

Evidence for a link between TNFRSF11A and risk of breast cancer

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

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

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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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

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

Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

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

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

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 of TP53 and BRCA2 genes in breast cancer/sarcoma families

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

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

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

Identification of four novel susceptibility loci for oestrogen receptor negative breast 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

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

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

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

Inhibition of both skin and lung tumorigenesis by Car-R mouse-derived cancer modifier loci

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

Is there a specific magnetic resonance phenotype characteristic of hereditary breast cancer?

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

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

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families