S. Agata

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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.

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

M. Federico, P. Radice, S. Manoukian, 2003, Breast Cancer Research and Treatment.

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

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

Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.

G. Mann, V. Chiarion-Sileni, A. Vecchiato, 2009, Mutation research.

CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

Silvio C. E. Tosatto, S. Tognazzo, S. Tosatto, 2014, Human mutation.

Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk

A. Whittemore, W. Chung, L. Kiemeney, 2020, medRxiv.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

A. Spurdle, C. Lázaro, S. Tognazzo, 2012, Breast Cancer Research and Treatment.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

Hepatosplenic γδ T‐cell lymphoma presenting with immune‐mediated thrombocytopenia and hemolytic anemia (Evans' syndrome)

G. Altavilla, A. Girolami, S. Agata, 2002 .

Identification of BRCA1 and BRCA2 carriers by allele‐specific gene expression (AGE) analysis

L. Chieco‐Bianchi, M. Montagna, S. Agata, 2002, International journal of cancer.

The BRCA2 sequence variant IVS19+1G-->A leads to an aberrant transcript lacking exon 19.

L. Chieco‐Bianchi, M. Montagna, S. Agata, 2003, Cancer genetics and cytogenetics.

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.

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.

DNA copy number alterations correlate with survival of esophageal adenocarcinoma patients

A. Corradin, A. Ruol, L. Bonaldi, 2009, Modern Pathology.

Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy

S. Tognazzo, V. Chiarion-Sileni, A. Vecchiato, 2011, Pigment cell & melanoma research.

Hepatosplenic gammadelta T-cell lymphoma presenting with immune-mediated thrombocytopenia and hemolytic anemia (Evans' syndrome).

G. Altavilla, A. Girolami, S. Agata, 2002, American journal of hematology.

Lack of association between androgen receptor CAG polymorphism and familial breast/ovarian cancer.

G. Banna, L. Chieco‐Bianchi, M. Montagna, 2001, Cancer letters.

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.

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

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

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.

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.

Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

S. Tognazzo, M. Montagna, S. Agata, 2020, Scientific Reports.

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.

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

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

BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

P. Radice, S. Manoukian, M. Montagna, 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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.

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

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

Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 -/- epithelial ovarian cancers.

A. Fassina, S. Ferrari, G. Esposito, 2006, European journal of cancer.

Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation status.

R. Bertorelle, G. Esposito, C. Belluco, 2006, Journal of the National Cancer Institute.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

A. Whittemore, W. Chung, L. Kiemeney, 2022, European Journal of Human Genetics.

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.

L. Chieco‐Bianchi, M. Montagna, S. Agata, 2003, Human Molecular Genetics.

Large genomic deletions inactivate the BRCA2 gene in breast cancer families

L. Chieco‐Bianchi, S. Agata, G. Zavagno, 2005, Journal of Medical Genetics.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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 .

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.

A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

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

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.

Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus

Jane E. Carpenter, Jaana M. Hartikainen, S. Cross, 2016 .

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.

Breast cancer risk variants at 6 q 25 display different phenotype associations and regulate ESR 1 , RMND 1 and CCDC 170

Wei Zheng, Mads Thomassen, Nicholas A. Sinnott-Armstrong, 2016 .

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 .

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.

Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations

M. Federico, A. Viel, S. Venuta, 2006, Genes, chromosomes & cancer.