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

Scientific reports, 2023-05, Vol.13 (1), p.7781-7781, Article 7781

2023

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

Endocrine, 2023-07, Vol.81 (1), p.98-106

2023

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miR-342 regulates BRCA1 expression through modulation of ID4 in breast cancer

PloS one, 2014-01, Vol.9 (1), p.e87039-e87039

2014

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

Cancers, 2020-04, Vol.12 (4), p.910

2020

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Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

PloS one, 2013-02, Vol.8 (2), p.e57173-e57173

2013

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Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

Integrative cancer therapies, 2018-03, Vol.17 (1), p.153-160

2018

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

Frontiers in genetics, 2022-03, Vol.13, p.820878-820878

2022

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Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature

Gynecologic oncology reports, 2019-05, Vol.28, p.68-70

2019

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

Cancers, 2019-01, Vol.11 (1), p.58

2019

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

PloS one, 2017-02, Vol.12 (2), p.e0171663-e0171663

2017

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

Frontiers in oncology, 2022-04, Vol.12, p.857515-857515

2022

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

Cancers, 2020-11, Vol.12 (12), p.3584

2020

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

Cancers, 2018-09, Vol.10 (9), p.309

2018

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Characterization of an Italian founder mutation in the RING-finger domain of BRCA1

PloS one, 2014-02, Vol.9 (2), p.e86924-e86924

2014

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

Genes, 2021-09, Vol.12 (9), p.1440

2021

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

Genetics in medicine, 2014-09, Vol.16 (9), p.688-694

2014

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Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases

PloS one, 2012-02, Vol.7 (2), p.e31038

2012

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

Endocrine-related cancer, 2011-08, Vol.18 (4), p.519-527

2011

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A large de novo9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

BMC medical genetics, 2014-05, Vol.15 (1), Article 59

2014

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

Psycho-oncology (Chichester, England), 2019-09, Vol.28 (9), p.1871-1878

2019

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LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis

American journal of human genetics, 1999, Vol.64 (1), p.62-69

1999

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

Journal of human genetics, 2006-03, Vol.51 (3), p.209-216

2006

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

Journal of clinical oncology, 2017-07, Vol.35 (20), p.2240-2250

2017

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

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

miR-342 regulates BRCA1 expression through modulation of ID4 in breast cancer

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

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

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

Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature

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

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

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

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

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

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1

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

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

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

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases

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

Clinical genetic testing for familial melanoma in Italy: A cooperative study

A large de novo9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

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

LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis

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

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

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