Publications by authors named "Loris Bernard"

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Characterization of a Genetic Variant in in Subjects Undergoing Germline Testing for Hereditary Tumors.
Elena Marino, Elena Belloni, Matteo Dal Molin, Monica Marabelli, Aliana Guerrieri-Gonzaga, Bernardo Bonanni, Loris Bernard

Biomedicines· November 2025

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mutation analysis in circulating tumor cells of patients with hormone receptor positive metastatic breast cancer.
Elena Marino, Cristian Mauro, Elena Belloni, Marco Picozzi, Valentina Favalli, Loris Bernard

Biochem Biophys Rep· September 2024

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CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Giovanni Corso, Elena Marino, Cristina Zanzottera, Carla Oliveira, Loris Bernard, Bernardo Bonanni

JAMA Netw Open· April 2024

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Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.
Giovanni Corso, Monica Marabelli, Mariarosaria Calvello, Sara Gandini, Matilde Risti, Loris Bernard, Bernardo Bonanni

Eur J Hum Genet· November 2023

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Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.
Mariarosaria Calvello, Monica Marabelli, Sara Gandini, Elena Marino, Loris Bernard, Bernardo Bonanni

Genes (Basel)· May 2023

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
Michela Lupia, Valentina Melocchi, Francesca Bizzaro, Pietro Lo Riso, Elisa Dama, Loris Bernard

Int J Cancer· July 2022

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Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy.
Caterina Fumagalli, Federica Tomao, Ilaria Betella, Alessandra Rappa, Mariarosaria Calvello, Bernardo Bonanni, Loris Bernard

Cancers (Basel)· October 2019

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Giorgio E M Melloni, Luca Mazzarella, Loris Bernard, Margherita Bodini, Anna Russo

Breast Cancer Res· May 2017

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Bernard Peissel, Bernardo Bonanni, Loris Bernard

J Med Genet· December 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, Loris Bernard, Bernard Peissel

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, Loris Bernard, Bernard Peissel, Bernardo Bonanni

Hum Mol Genet· September 2015

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Loris Bernard

Nat Genet· April 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, Bernard Peissel, Bernardo Bonanni, Loris Bernard

JAMA· April 2015

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Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype.
Elena Belloni, Giulia Veronesi, Luca Rotta, Sara Volorio, Domenico Sardella, Loris Bernard

Cancer Genet· April 2015

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Karoline B Kuchenbaecker, Susan J Ramus, Jonathan Tyrer, Andrew Lee, Howard C Shen, Loris Bernard, Bernardo Bonanni, Bernard Peissel

Nat Genet· February 2015

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Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
Laura Caleca, Anna Laura Putignano, Mara Colombo, Caterina Congregati, Mohosin Sarkar, Bernard Peissel, Loris Bernard

PLoS One· January 2015

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The hidden genomic landscape of acute myeloid leukemia: subclonal structure revealed by undetected mutations.
Margherita Bodini, Chiara Ronchini, Luciano Giacò, Anna Russo, Giorgio E M Melloni, Loris Bernard

Blood· January 2015

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PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Irene Catucci, Paolo Peterlongo, Sara Ciceri, Mara Colombo, Graziella Pasquini, Bernardo Bonanni, Loris Bernard, Bernard Peissel

Genet Med· September 2014

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Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.
Valeria Molinaro, Valeria Pensotti, Monica Marabelli, Irene Feroce, Monica Barile, Loris Bernard, Bernardo Bonanni

Genes Chromosomes Cancer· May 2014

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Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Kerstin B Meyer, Martin O'Reilly, Kyriaki Michailidou, Saskia Carlebur, Stacey L Edwards, Bernard Thienpont, Bernardo Bonanni, Loris Bernard

Am J Hum Genet· December 2013

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Oxidative stress activates a specific p53 transcriptional response that regulates cellular senescence and aging.
Valentina Gambino, Giulia De Michele, Oriella Venezia, Pierluigi Migliaccio, Valentina Dall'Olio, Loris Bernard

Aging Cell· June 2013

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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Stig E Bojesen, Karen A Pooley, Sharon E Johnatty, Jonathan Beesley, Kyriaki Michailidou, Bernard Peissel, Bernardo Bonanni, Loris Bernard

Nat Genet· April 2013

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Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
Montserrat Garcia-Closas, Fergus J Couch, Sara Lindstrom, Kyriaki Michailidou, Marjanka K Schmidt, Bernard Peissel, Loris Bernard

Nat Genet· April 2013

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First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
Carla B Ripamonti, Mara Colombo, Patrizia Mondini, Manoukian Siranoush, Bernard Peissel, Loris Bernard

BMC Cancer· February 2013

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An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
Ettore Salsano, Ambra Rizzo, Gloria Bedini, Loris Bernard, Valentina Dall'olio

J Neuroinflammation· February 2013

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