Search filters

List of works by Bernard Peissel

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

scientific article published on 04 September 2018

A cancer modifier role for parathyroid hormone-related protein

scientific article published in November 2000

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

scientific article

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

scientific article

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.

scientific article published in January 1994

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

scientific article

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

scientific article

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

scientific article published on October 2003

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

scientific article published on September 2008

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

scientific article published on 25 April 2015

An unusual BRCA2 allele carrying two splice site mutations

scientific article published on 07 May 2009

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

scientific article

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

scientific article published on 13 November 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

scientific article

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.

scientific article

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

scientific article published on 18 August 2021

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

scientific article

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

scientific article published on 31 December 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

scientific article

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

scientific article published on 11 January 2022

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

scientific article

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

scientific article

Cardio-Oncology: The Carney Complex Type I.

scientific article published in October 2016

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

scientific article

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

scientific article published on 18 May 2011

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

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

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

scientific article

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

scientific article

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

scientific article published on 20 February 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 October 2015

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

scientific article published on 09 January 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

scientific article published on 7 March 2008

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

scientific article

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

scientific article published on 3 November 2011

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

scientific article published in March 2015

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

scientific article

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.

scientific article

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

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

scientific article

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

scientific article

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

scientific article published on 4 February 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

scientific article published on 07 January 2020

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

scientific article

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

scientific article published on 7 April 2010

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

scientific article published on 25 July 2011

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

scientific article published on 01 January 1995

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

scientific article

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

scientific article published in April 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

scientific article (publication date: 2013)

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

scientific article published on 16 January 2007

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 April 2016

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

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 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

scientific article published on October 2006

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

scientific article

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

scientific article published on 24 August 2017

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

scientific article published in February 2002

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

scientific article

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

scientific article

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

scientific article published on 01 September 2019

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

scientific article published on 01 October 1991

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

scientific article published in November 2000

Loss of tyrosinase activity confers increased skin tumor susceptibility in mice

scientific article published on May 2004

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

scientific article published on November 2006

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

scientific article

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

scientific article

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

scientific article published on April 2013

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

scientific article

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

scientific article published on 4 February 2006

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

scientific article published in May 2015

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

scientific article

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

scientific article published on 24 December 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

scientific article published in December 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)

scientific article published on 5 December 2011

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

scientific article published on October 1, 1997

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

scientific article published on 15 July 2020

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

scientific article

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

scientific article published on June 1, 1992

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

scientific article published in December 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

scientific article published on 13 May 2008

Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis

scientific article published on 23 January 2008

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

scientific article

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

scientific article published on 01 July 1991

SCCA2-like serpins mediate genetic predisposition to skin tumors

scientific article (publication date: 15 April 2003)

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 6 January 2009

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

scientific article

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

scientific article published on 01 September 2011

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

scientific article published on 01 January 1994

Skeletal malformations and polycystic kidney disease.

scientific article

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

scientific article published on 29 December 2017

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

scientific article published on 22 July 2010

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

scientific article

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

scientific article

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

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

scientific article published on 12 May 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.

scientific article published in April 2001

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

scientific article published on 20 September 2016

X chromosome inactivation pattern in BRCA gene mutation carriers

scientific article published on 9 November 2012

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

scientific article published on 27 January 2014

Paulina is supported by:

About Paulina

Help