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A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient

International journal of molecular sciences, 2023-08, Vol.24 (15), p.12418

2023

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Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients

International journal of molecular sciences, 2022-12, Vol.23 (24), p.15789

2022

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Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

BMC cancer, 2021-05, Vol.21 (1), p.611-611, Article 611

2021

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Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer

Pharmaceuticals (Basel, Switzerland), 2021-05, Vol.14 (5), p.457

2021

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Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family

Frontiers in oncology, 2022-02, Vol.12, p.835346

2022

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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

Cancer medicine (Malden, MA), 2024-08, Vol.13 (16), p.e70114-n/a

2024

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Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients

Diagnostics (Basel), 2020-04, Vol.10 (5), p.269

2020

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Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer

Oncotarget, 2017-07, Vol.8 (29), p.47064-47075

2017

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Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Cancers, 2023-04, Vol.15 (7), p.2132

2023

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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

British journal of cancer, 2023-06, Vol.128 (12), p.2283-2294

2023

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Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome

International journal of colorectal disease, 2019-11, Vol.34 (11), p.1999-2002

2019

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Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

Cancers, 2019-09, Vol.11 (9), p.1340

2019

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BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

Oncotarget, 2017-04, Vol.8 (14), p.22640-22648

2017

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First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

BMC cancer, 2014-07, Vol.14 (1), p.478-478, Article 478

2014

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Multiple Primary Tumors in a Family with Li-Fraumeni Syndrome with a TP53 Germline Mutation Identified by Next-Generation Sequencing

The International journal of biological markers, 2016-10, Vol.31 (4), p.461-465

2016

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Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Breast cancer research and treatment, 2008-11, Vol.112 (2), p.343-349

2008

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Disease family history and modification of breast cancer risk in common BRCA2 variants

Oncology reports, 2008-03, Vol.19 (3), p.783-786

2008

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A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient

International journal of molecular sciences, 2023, Vol.24 (15)

2023

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Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family

Frontiers in oncology, 2022, Vol.12, p.835346-835346

2022

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Nonrandom gain of chromosome 7 in central neurocytoma : a chromosomal analysis and fluorescence in situ hybridization study

Virchows Archiv : an international journal of pathology, 1997, Vol.430 (1), p.47-51

1997

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Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

Mutation research, 2001, Vol.432 (3-4), p.79-82

2001

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Atypical Mycosis in Psittacine Birds: A Retrospective Study

Frontiers in veterinary science, 2022-05, Vol.9, p.883276-883276

2022

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The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies

Critical reviews in oncology/hematology, 2022-01, Vol.169, p.103567-103567, Article 103567

2022

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A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient

Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients

Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol

Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients

Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

Multiple Primary Tumors in a Family with Li-Fraumeni Syndrome with a TP53 Germline Mutation Identified by Next-Generation Sequencing

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Disease family history and modification of breast cancer risk in common BRCA2 variants

A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family

Nonrandom gain of chromosome 7 in central neurocytoma : a chromosomal analysis and fluorescence in situ hybridization study

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

Atypical Mycosis in Psittacine Birds: A Retrospective Study

The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies

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