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1. Full Text Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability
by Berrino, Jacopo and Berrino, Franco and Francisci, Silvia and Peissel, Bernard and Azzollini, Jacopo and Pensotti, Valeria and Radice, Paolo and Pasanisi, Patrizia and Manoukian, Siranoush
Familial cancer, ISSN 1389-9600, 03/2015, Volume 14, Issue 1, pp. 117 - 128
BRCA genes | Penetrance | Breast cancer | Mutation probability | Risk estimation model | Ovarian cancer | Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Area Under Curve | Humans | Genetic Testing - methods | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Bayes Theorem | Genes, BRCA2 | Female | ROC Curve | Software | Genes, BRCA1 | Mutation | Gene mutations | Medical genetics | Index Medicus
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2. Full Text Risk‐reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?
by Manoukian, Siranoush and Alfieri, Sara and Bianchi, Elisabetta and Peissel, Bernard and Azzollini, Jacopo and Borreani, Claudia
Psycho-oncology (Chichester, England), ISSN 1057-9249, 09/2019, Volume 28, Issue 9, pp. 1871 - 1878
genetic counselling | decision making | cancer | mastectomy | oophorectomy | surveillance | oncology | prophylactic surgery | high‐risk women | Psychology, Multidisciplinary | Social Sciences | Life Sciences & Biomedicine | Psychology | Social Sciences, Biomedical | Oncology | Biomedical Social Sciences | Science & Technology | Breast Neoplasms - surgery | Choice Behavior | Risk Reduction Behavior | Humans | Middle Aged | Mastectomy - psychology | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Adult | Female | Heterozygote | Surveys and Questionnaires | Watchful Waiting | Mutation | BRCA2 Protein - genetics | Cohort Studies | Ovarian Neoplasms - surgery | Salpingectomy - psychology | Prevention | Genetic counseling | Surgery | Oncology, Experimental | Medical genetics | Development and progression | Genetic aspects | Research | Health aspects | Cancer | Ovarian cancer | Women | Demographic aspects | Breast cancer | Family medical history | Mothers | Cancer surgery | Medical history | Surveillance | Womens health | Oophorectomy | Mastectomy | Relatives | Index Medicus
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3. Full Text Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations
by Azzollini, Jacopo and Azzollini, Jacopo and Mariani, Milena and Mariani, Milena and Peissel, Bernard and Peissel, Bernard and Manoukian, Siranoush and Manoukian, Siranoush
Familial cancer, ISSN 1389-9600, 7/2018, Volume 17, Issue 3, pp. 317 - 319
Human Genetics | Biomedicine, general | Cancer Research | Biomedicine | Epidemiology | Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic research | Breast cancer | Genetic aspects | Tumor proteins | Cancer | p53 Protein | Index Medicus | Letter to the Editor
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4. Full Text Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy
by Rizzolo, Piera and Zelli, Veronica and Silvestri, Valentina and Valentini, Virginia and Zanna, Ines and Bianchi, Simonetta and Masala, Giovanna and Spinelli, Alessandro Mauro and Tibiletti, Maria Grazia and Russo, Antonio and Varesco, Liliana and Giannini, Giuseppe and Capalbo, Carlo and Calistri, Daniele and Cortesi, Laura and Viel, Alessandra and Bonanni, Bernardo and Azzollini, Jacopo and Manoukian, Siranoush and Montagna, Marco and Peterlongo, Paolo and Radice, Paolo and Palli, Domenico and Ottini, Laura
International journal of cancer, ISSN 0020-7136, 07/2019, Volume 145, Issue 2, pp. 390 - 400
male breast cancer | BRCA1/2 | germline mutations | cancer susceptibility genes | multigene panel testing | Life Sciences & Biomedicine | Oncology | Science & Technology | Adenomatous Polyposis Coli Protein - genetics | Breast Neoplasms, Male - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Fanconi Anemia Complementation Group N Protein - genetics | Humans | Middle Aged | DNA Glycosylases - genetics | Male | Case-Control Studies | Young Adult | Checkpoint Kinase 2 - genetics | Aged, 80 and over | Adult | Italy | Aged | Mutation | Sequence Analysis, DNA - methods | Gene mutations | Oncology, Experimental | Genetic research | Medical tests | Breast cancer | Disease susceptibility | Research | Cancer | Carriers | BRCA1 protein | Etiology | Genes | Heritability | Adenomatous polyposis coli | Index Medicus
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5. Full Text A dietary intervention to lower serum levels of IGF-I in BRCA mutation carriers
by Pasanisi, Patrizia and Bruno, Eleonora and Venturelli, Elisabetta and Morelli, Daniele and Oliverio, Andreina and Baldassari, Ivan and Rovera, Francesca and Iula, Giovanna and Taborelli, Monica and Peissel, Bernard and Azzolini, Jacopo and Manoukian, Siranoush
Cancers, ISSN 2072-6694, 09/2018, Volume 10, Issue 9, p. 309
BRCA genes | Mutation carriers | Penetrance | IGF-I | Diet | Life Sciences & Biomedicine | Oncology | Science & Technology | diet | mutation carriers | penetrance
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6. Full Text Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature
by Villa, Roberta and Azzollini, Jacopo and Peissel, Bernard and Manoukian, Siranoush
Gynecologic oncology reports, ISSN 2352-5789, 05/2019, Volume 28, pp. 68 - 70
Early onset ovarian cancer | Mayer Rokitansky Küster Hauser syndrome | Low-grade serous carcinoma
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7. Full Text Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
by Catucci, Irene and Osorio, Ana and Arver, Brita and Neidhardt, Guido and Bogliolo, Massimo and Zanardi, Federica and Riboni, Mirko and Minardi, Simone and Pujol, Roser and Azzollini, Jacopo and Peissel, Bernard and Manoukian, Siranoush and De Vecchi, Giovanna and Casola, Stefano and Hauke, Jan and Richters, Lisa and Rhiem, Kerstin and Schmutzler, Rita K and Wallander, Karin and Törngren, Therese and Borg, Åke and Radice, Paolo and Surrallés, Jordi and Hahnen, Eric and Ehrencrona, Hans and Kvist, Anders and Benitez, Javier and Peterlongo, Paolo and Einbeigi, Zakaria and Stenmark-Askmalm, Marie and Lindblom, Annika and Tham, Emma and Melin, Beatrice and Paulsson-Karlsson, Ylva
Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 452 - 457
breast cancer risk factors | genotype/phenotype correlation | FA-like disease | biallelic FANCM mutations | Fanconi anemia | Genetic Predisposition to Disease | Genetic Association Studies | Risk Assessment | Humans | Risk Factors | Genotype | Male | Antineoplastic Agents - therapeutic use | Breast Neoplasms - drug therapy | Chromosome Fragility | Drug Resistance, Neoplasm - genetics | Phenotype | Breast Neoplasms - genetics | Fanconi Anemia - diagnosis | Pedigree | Alleles | Germ-Line Mutation | Female | Antineoplastic Agents - pharmacology | Breast Neoplasms - diagnosis | Consanguinity | Fanconi Anemia - genetics | Mutation | DNA Helicases - genetics | Genotype & phenotype | Chemotherapy | Anemia | Genes | Bone marrow | Breast cancer | Chromosomes | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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8. Full Text Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer
by Tabano, Silvia and Azzollini, Jacopo and Pesenti, Chiara and Lovati, Sara and Costanza, Jole and Fontana, Laura and Peissel, Bernard and Miozzo, Monica and Manoukian, Siranoush
Cancers, ISSN 2072-6694, 04/2020, Volume 12, Issue 4, p. 910
Life Sciences & Biomedicine | Oncology | Science & Technology | BRCA1 protein | Ovarian carcinoma | Genes | Mass spectroscopy | Breast cancer | Family medical history | Cancer therapies | Ovarian cancer | Studies | Chemotherapy | Genetic counseling | Womens health | Peripheral blood | DNA methylation | Epigenetics | Mutation | ovarian carcinoma | RAD51C | BRCA1 | promoter methylation | breast carcinoma | germline epigenetic defects
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9. Full Text Whole‐exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene
by Silvestri, Valentina and Zelli, Veronica and Valentini, Virginia and Rizzolo, Piera and Navazio, Anna Sara and Coppa, Anna and Agata, Simona and Oliani, Cristina and Barana, Daniela and Castrignanò, Tiziana and Viel, Alessandra and Russo, Antonio and Tibiletti, Maria Grazia and Zanna, Ines and Masala, Giovanna and Cortesi, Laura and Manoukian, Siranoush and Azzollini, Jacopo and Peissel, Bernard and Bonanni, Bernardo and Peterlongo, Paolo and Radice, Paolo and Palli, Domenico and Giannini, Giuseppe and Chillemi, Giovanni and Montagna, Marco and Ottini, Laura
Cancer, ISSN 0008-543X, 01/2017, Volume 123, Issue 2, pp. 210 - 218
male breast cancer | partner and localizer of BRCA2 (PALB2) | genetic susceptibility | whole‐exome sequencing | N‐acetyltransferase 1 (NAT1) | N-acetyltransferase 1 (NAT1) | whole-exome sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Breast Neoplasms, Male - genetics | Genetic Predisposition to Disease - genetics | Humans | Male | DNA Mutational Analysis - methods | Mutation - genetics | Case-Control Studies | BRCA1 Protein - genetics | Exome - genetics | Breast Neoplasms - genetics | Pedigree | Tumor Suppressor Proteins - genetics | Female | Italy | Nuclear Proteins - genetics | Fanconi Anemia Complementation Group N Protein | BRCA2 Protein - genetics | Male breast cancer | Exome sequencing | Research | BRCA2 protein | BRCA1 protein | Nonsense mutation | Health risks | N-Acetyltransferase | Risk | Breast cancer | N-acetyltransferase 1 | Genetic screening | Gene sequencing | Etiology | Genetics | Acetyltransferase | Mutation | Genetic factors | Deoxyribonucleic acid--DNA | Cancer | Index Medicus | Abridged Index Medicus
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10. Full Text Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
by Azzollini, Jacopo and Rovina, Davide and Gervasini, Cristina and Parenti, Ilaria and Fratoni, Alessia and Cubellis, Maria Vittoria and Cerri, Amilcare and Pietrogrande, Luca and Larizza, Lidia
Journal of human genetics, ISSN 1434-5161, 11/2014, Volume 59, Issue 11, pp. 631 - 637
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Structure, Tertiary | Amino Acid Sequence | Genetic Association Studies | Matrix Metalloproteinase 2 - metabolism | Osteolysis - genetics | Humans | Catalytic Domain - genetics | Models, Molecular | Molecular Sequence Data | Male | Mutation, Missense | Osteolysis - metabolism | Sequence Homology, Amino Acid | Homozygote | Matrix Metalloproteinase 2 - genetics | DNA Mutational Analysis | Pedigree | HEK293 Cells | Adult | Female | Matrix Metalloproteinase 2 - chemistry | Osteolysis - pathology | Siblings | Phenotypes | Matrix metalloproteinase | Osteolysis | Nodules | Hereditary diseases | Gelatinase A | Missense mutation | Gelatin | Skin diseases | Metalloproteinase | Mutation | Protein structure | Skin lesions | Genotypes | Index Medicus
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11. Full Text Two missense variants detected in breast cancer probands preventing BRCA2-PALB2 protein interaction
by Caleca, Laura and Catucci, Irene and Figlioli, Gisella and De Cecco, Loris and Pesaran, Tina and Ward, Maggie and Volorio, Sara and Falanga, Anna and Marchetti, Marina and Iascone, Maria and Tondini, Carlo and Zambelli, Alberto and Azzollini, Jacopo and Manoukian, Siranoush and Radice, Paolo and Peterlongo, Paolo
Frontiers in oncology, ISSN 2234-943X, 2018, Volume 8, pp. 480 - 480
Breast cancer predisposition genes | VUS | PALB2-BRCA2 interacting domain | Breast cancer | BRCA2 | PALB2 | Functional analyses | Life Sciences & Biomedicine | Oncology | Science & Technology | Genetic variation | BRCA mutations | Genetic aspects | Binding proteins | Health aspects | Risk factors | Prevention | Diagnosis | Cancer | breast cancer | functional analyses | breast cancer predisposition genes
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12. Full Text Constitutive BRCA1 promoter hypermethylation can be a predisposing event in isolated early-onset breast cancer
by Azzollini, Jacopo and Pesenti, Chiara and Pizzamiglio, Sara and Fontana, Laura and Guarino, Carmela and Peissel, Bernard and Plebani, Maddalena and Tabano, Silvia and Sirchia, Silvia Maria and Colapietro, Patrizia and Villa, Roberta and Paolini, Biagio and Verderio, Paolo and Miozzo, Monica and Manoukian, Siranoush
Cancers, ISSN 2072-6694, 01/2019, Volume 11, Issue 1, p. 58
Epigenetics | Promoter methylation | Breast cancer | BRCA1 | Life Sciences & Biomedicine | Oncology | Science & Technology | breast cancer | promoter methylation | epigenetics
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