Publications by authors named "Simona Agata"

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DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, Stefania Massuras, Veronica Pagliardini, Simona Agata

Am J Med Genet A· December 2025

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Simona Agata

Eur J Hum Genet· May 2022

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Simona Agata

Eur J Hum Genet· March 2022

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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Simona Agata

Nat Commun· May 2021

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Simona Agata

Nat Commun· February 2021

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Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.
Simona Agata, Silvia Tognazzo, Elisa Alducci, Laura Matricardi, Lidia Moserle

Sci Rep· August 2020

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Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.
Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Simona Agata

Cancer Res· February 2020

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R Barnes, Jamie Allen, Simona Agata

Nat Genet· January 2020

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The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Simona Agata

NPJ Breast Cancer· November 2019

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Simona Agata

Hum Mutat· September 2019

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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Simona Agata

Hum Mutat· May 2018

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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Simona Agata

Nat Genet· December 2017

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Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Valentina Silvestri, Veronica Zelli, Virginia Valentini, Piera Rizzolo, Anna Sara Navazio, Simona Agata

Cancer· January 2017

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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Simona Agata

Breast Cancer Res· June 2016

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Simona Agata

Nat Genet· April 2016

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Fergus J Couch, Karoline B Kuchenbaecker, Kyriaki Michailidou, Gustavo A Mendoza-Fandino, Silje Nord, Simona Agata

Nat Commun· April 2016

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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Simona Agata

PLoS One· December 2015

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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Simona Agata

Hum Mol Genet· September 2015

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Timothy R Rebbeck, Nandita Mitra, Fei Wan, Olga M Sinilnikova, Sue Healey, Simona Agata

JAMA· April 2015

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Karoline B Kuchenbaecker, Susan L Neuhausen, Mark Robson, Daniel Barrowdale, Lesley McGuffog, Simona Agata

Breast Cancer Res· December 2014

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CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Simona Agata

Hum Mutat· July 2014

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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Simona Agata

PLoS Genet· June 2013

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A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
Yuan C Ding, Lesley McGuffog, Sue Healey, Eitan Friedman, Yael Laitman, Simona Agata

Cancer Epidemiol Biomarkers Prev· August 2012

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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.
Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Simona Agata

Cancer Epidemiol Biomarkers Prev· April 2012

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Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Nasim Mavaddat, Daniel Barrowdale, Irene L Andrulis, Susan M Domchek, Diana Eccles, Simona Agata

Cancer Epidemiol Biomarkers Prev· January 2012

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