B. Peissel

发表

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

A. Ballabio, Y. Pei, A. Renieri, 1999, American journal of human genetics.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

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

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Yurii B. Shvetsov, Simon G. Coetzee, A. Whittemore, 2015, Nature Genetics.

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

Lara E Sucheston-Campbell, Simon G. Coetzee, Lara E. Sucheston-Campbell, 2017, Nature Genetics.

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

Dong Liang, Jane E. Carpenter, Peter Kraft, 2016 .

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

J. Benítez, A. Antoniou, H. Nevanlinna, 2008, British Journal of Cancer.

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

Mads Thomassen, Etienne Rouleau, Dieter Niederacher, 2010, Cancer research.

Is there a Specific Magnetic Resonance Phenotype Characteristic of Hereditary Breast Cancer?

Giovanna Trecate, Daniele Vergnaghi, Davide Scaramuzza, 2010, Tumori.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

S. Manoukian, C. Brunelli, M. Pierotti, 2014, Clinical genetics.

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

P. Pignatti, G. Maschio, S. Rossetti, 1993, Journal of medical genetics.

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

P. Radice, M. Carcangiu, L. Bernard, 2013, BMC Cancer.

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

L. Mariani, P. Radice, S. Manoukian, 2008, Modern Pathology.

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

S. Manoukian, M. Carcangiu, B. Peissel, 2017, PloS one.

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

F. Couch, B. Bonanni, T. Rebbeck, 2011, British Journal of Cancer.

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

J. Benítez, Å. Borg, R. Schmutzler, 2017, Genetics in Medicine.

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

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

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

P. Radice, S. Manoukian, V. Pensotti, 2016, European journal of internal medicine.

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

F. Berrino, B. Bonanni, S. Manoukian, 2011, Familial Cancer.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

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

M. Gariboldi, T. Dragani, A. Albini, 2003, Oncogene.

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

S. Manoukian, P. Pasanisi, E. Bruno, 2018, Cancers.

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

M. Borrello, M. Pierotti, B. Peissel, 2011, Endocrine-related cancer.

Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis

O. Garrone, F. Petrelli, B. Peissel, 2022, ESMO open.

Lifestyle Characteristics in Women Carriers of BRCA Mutations: Results From an Italian Trial Cohort.

A. Paradiso, P. Pasanisi, S. Tommasi, 2020, Clinical breast cancer.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

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

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type

P. Radice, S. Manoukian, P. Pasanisi, 2022, Frontiers in Genetics.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

Clinical genetic testing for familial melanoma in Italy: a cooperative study.

P. Ascierto, S. Manoukian, M. Pizzichetta, 2009, Journal of the American Academy of Dermatology.

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

P. Radice, S. Manoukian, B. Pasini, 2006, The American journal of surgical pathology.

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

Wei Lu, Wei Zheng, Mads Thomassen, 2013, Nature Genetics.

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

Nussbaum, S. Cross, P. Fasching, 2016 .

Male breast cancer in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, F. Couch, 2018 .

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.

R. Kalluri, H. Rennke, E. Neilson, 1995, The Journal of clinical investigation.

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

P. Radice, S. Manoukian, M. Carcangiu, 2017, Cancer genetics.

A cancer modifier role for parathyroid hormone-related protein

M. Gariboldi, T. Dragani, S. Pazzaglia, 2000, Oncogene.

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

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

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

B. Bonanni, P. Radice, P. Peterlongo, 2017, Cancer.

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

M. Gariboldi, P. Radice, S. Manoukian, 2008, Journal of the National Cancer Institute.

Title Interplay between BRCA 1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Loris, Fiona, Meindl, 2012 .

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

Nicholas A. Sinnott-Armstrong, Richard C. Sallari, S. Cross, 2016, Nature Genetics.

Cardio-Oncology

E. Arbustini, S. Manoukian, J. Bertherat, 2021, Practical Medical Oncology Textbook.

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

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.

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

Weining Lu, Jing Zhou, G. Brent, 1997, Nature Genetics.

A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

P. Pignatti, S. Rossetti, A. Sessa, 1994 .

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

F. Berrino, P. Radice, S. Manoukian, 2015, Familial Cancer.

An unusual BRCA2 allele carrying two splice site mutations.

P. Radice, S. Manoukian, V. Pensotti, 2009, Annals of oncology : official journal of the European Society for Medical Oncology.

Loss of tyrosinase activity confers increased skin tumor susceptibility in mice

T. Dragani, S. Pazzaglia, A. Saran, 2004, Oncogene.

Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT.

S. Manoukian, S. Pilotti, A. Ferrari, 2009, The Journal of investigative dermatology.

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Päivi Heikkilä, Mads Thomassen, Stephen Fox, 2011, Cancer Epidemiology, Biomarkers & Prevention.

The role of genetic breast cancer susceptibility variants as prognostic factors.

Jaana M. Hartikainen, S. Cross, M. Beckmann, 2012, Human molecular genetics.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

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

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

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

D. Steinemann, F. Couch, B. Bonanni, 2016, PloS one.

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

R. Nussbaum, D. Steinemann, F. Couch, 2016, Breast Cancer Research.

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

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

P. Radice, S. Manoukian, V. Pensotti, 2014, PloS one.

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

V. Pankratz, F. Couch, B. Bonanni, 2012, British Journal of Cancer.

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

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

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

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

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

S. Manoukian, A. Ferrari, B. Pasini, 2014, BMC Medical Genetics.

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

Patrick Neven, Michael Jones, Wei Lu, 2013, Nature Genetics.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Filomena Ficarazzi, Monica Barile, Paolo Radice, 2013, PloS one.

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

B. Bonanni, P. Radice, P. Peterlongo, 2014, Genetics in Medicine.

MRI in the Early Detection of Breast Cancer in Women with High Genetic Risk

F. Podo, B. Peissel, C. Ferranti, 2006, Tumori.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

SCCA2-like serpins mediate genetic predisposition to skin tumors.

Y. Hayashizaki, Y. Okazaki, M. Gariboldi, 2003, Cancer research.

SCCA 2-like Serpins Mediate Genetic Predisposition to Skin Tumors 1

Y. Hayashizaki, Y. Okazaki, M. Gariboldi, 2003 .

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

N. Zanesi, T. Dragani, G. Doria, 2000, Mammalian Genome.

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

Dong Liang, Patrick Neven, Harvey Risch, 2016, Journal of the National Cancer Institute.

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

P. Pignatti, G. Maschio, L. Gammaro, 1991, Clinical genetics.

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

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

J. Bartek, P. Radice, S. Manoukian, 2011, Breast Cancer Research and Treatment.

miR-342 Regulates BRCA1 Expression through Modulation of ID4 in Breast Cancer

G. Calin, M. Gariboldi, P. Radice, 2014, PloS one.

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

P. Radice, S. Manoukian, E. Sensi, 2004, Human mutation.

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

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Joshua M. Korn, M. Daly, D. Altshuler, 2011, Human Genetics.

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

Jane E. Carpenter, A. Whittemore, W. Chung, 2016, Nature Communications.

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

A. Acquaviva, T. Hadjistilianou, S. Manoukian, 2006, Journal of Human Genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

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

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

X chromosome inactivation pattern in BRCA gene mutation carriers.

P. Radice, S. Manoukian, V. Pensotti, 2013, European journal of cancer.

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

S. Manoukian, B. Peissel, M. Miozzo, 2020, Cancers.

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

Jaana M. Hartikainen, S. Cross, M. Beckmann, 2021, Breast Cancer Research.

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

S. Manoukian, S. Pizzamiglio, B. Paolini, 2019, Cancers.

Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA )

R. Nussbaum, V. Pankratz, F. Couch, 2011 .

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

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

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

Jaana M. Hartikainen, S. Cross, M. Beckmann, 2015, Human molecular genetics.

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

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

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

Christiana Kartsonaki, Mads Thomassen, Etienne Rouleau, 2011, Human molecular genetics.

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

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

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

Mads Thomassen, Nina Ditsch, Dieter Niederacher, 2009, Human molecular genetics.

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

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

Fine-mapping identi fi es two additional breast cancer susceptibility loci at 9 q 31 . 2

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2015 .

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Risk‐reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?

S. Manoukian, B. Peissel, J. Azzollini, 2019, Psycho-oncology.

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

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

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

Rapid Publication Identification and Localization of Polycystin , the PKD 1 Gene Product

Y. Pei, H. Rennke, M. Ericsson, 2013 .

Identification and localization of polycystin, the PKD1 gene product.

Y. Pei, H. Rennke, M. Ericsson, 1996, The Journal of clinical investigation.

A Targeted Approach to Genetic Counseling in Breast Cancer Patients: The Experience of an Italian Local Project

P. Radice, S. Manoukian, V. Pensotti, 2016, Tumori.

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

J. Reiffers, C. Chabannon, J. Bosson, 1991, Bone marrow transplantation.

Skeletal malformations and polycystic kidney disease.

P. Pignatti, S. Rossetti, B. Peissel, 1994, Journal of medical genetics.

Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

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

Paolo Peterlongo, Monica Barile, Paolo Radice, 2012, Human mutation.

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

P. Pignatti, G. Maschio, S. Rossetti, 2022 .

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients

S. Manoukian, L. De Cecco, M. Dugo, 2021, Genes.

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

P. Radice, S. Manoukian, V. Pensotti, 2007, European journal of cancer.

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

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.

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

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

Reconstructing the Genealogy of a BRCA1 Founder Mutation by Phylogenetic Analysis

P. Radice, G. Bevilacqua, G. Cipollini, 2008, Annals of human genetics.

Mapping of Melanoma Modifier Loci in RET Transgenic Mice

N. Zanesi, T. Dragani, A. Aloisi, 2000, Japanese journal of cancer research : Gann.

SNPs in ultraconserved elements and familial breast cancer risk.

P. Radice, P. Peterlongo, S. Manoukian, 2009, Carcinogenesis.

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.

Julian Peto, Kyriaki Michailidou, Thomas Brüning, 2014, Human molecular genetics.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

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

Jaana M. Hartikainen, Kristen S Purrington, Ali Amin Al Olama, 2014, Human molecular genetics.

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

A. Paradiso, P. Radice, S. Manoukian, 2020, Cancers.

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

B. Bonanni, G. Matullo, P. Radice, 2021, Cancers.

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model

S. Manoukian, G. Pruneri, A. Vingiani, 2022, Frontiers in Oncology.

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

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

S. Manoukian, P. Pasanisi, E. Bruno, 2017, Integrative cancer therapies.

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

P. Radice, S. Manoukian, V. Pensotti, 2010, Breast Cancer Research and Treatment.

Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma

S. Manoukian, G. Pruneri, A. Vingiani, 2023, Scientific reports.

Evidence for a link between TNFRSF11A and risk of breast cancer

F. Climent, J. Benítez, M. Pujana, 2011, Breast Cancer Research and Treatment.

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

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

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

J. Benítez, G. Giles, G. Severi, 2011, Journal of Medical Genetics.

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

P. Radice, P. Peterlongo, S. Manoukian, 2012, Breast Cancer Research and Treatment.

Comparative Distribution of the al ( IV ) , a 5 ( IV ) , and a 6 ( IV ) Collagen Chains in Normal HumanAdult and Fetal Tissues and in Kidneys from X-linked Alport Syndrome Patients

R. Kalluri, H. Rennke, E. Neilson, 2013 .

Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review

O. Garrone, F. Natacci, D. Milani, 2023, Endocrine.

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

N. Zanesi, T. Dragani, S. Pazzaglia, 2002, International journal of cancer.

Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome

F. Brancati, A. Pizzuti, V. Gatta, 2010, The Journal of craniofacial surgery.

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

Jane E. Carpenter, Lara E Sucheston-Campbell, Ali Amin Al Olama, 2016 .

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

P. Pignatti, S. Rossetti, B. Peissel, 1994, Archives of pediatrics & adolescent medicine.

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

P. Pignatti, B. Peissel, L. Bovicelli, 1992, Prenatal diagnosis.

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

P. Peterlongo, S. Manoukian, P. L. Poliani, 2015, Scientific Reports.

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

P. Radice, P. Peterlongo, S. Manoukian, 2012, PLoS ONE.

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

S. Manoukian, S. Rossetti, A. Selicorni, 1993, American journal of medical genetics.

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

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

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

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

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

N. Zanesi, T. Dragani, S. Pazzaglia, 2001, Mammalian Genome.

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, David Evans, 2017 .

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

Jane E. Carpenter, Lara E Sucheston-Campbell, A. Whittemore, 2016, Journal of Medical Genetics.

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

A. Whittemore, S. Cross, R. Nussbaum, 2016, Breast Cancer Research.

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

F. Berrino, P. Radice, S. Manoukian, 2014, Familial Cancer.

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

Sebastian M. Armasu, Jaana M. Hartikainen, A. Whittemore, 2013, Nature Genetics.

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Yurii B. Shvetsov, Simon G. Coetzee, Dennis J. Hazelett, 2014, Nature Genetics.

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

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

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

V. Pankratz, F. Couch, T. Rebbeck, 2011, Human molecular genetics.

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

F. Couch, B. Bonanni, J. Benítez, 2009, Human molecular genetics.

Peer Reviewed Title

B. Bonanni, O. Olopade, B. Karlan, 2012 .

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

A. Whittemore, F. Couch, B. Bonanni, 2015 .

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

M. Borrello, M. Pierotti, B. Peissel, 2011, Endocrine-related cancer.

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

S. Manoukian, C. Brunelli, B. Peissel, 2014, Clinical genetics.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.

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

P. Pignatti, G. Maschio, S. Rossetti, 1995, Journal of perinatal medicine.

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

Jane E. Carpenter, Jaana M. Hartikainen, A. Whittemore, 2016, Breast Cancer Research.