Roberta Rizza

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 10 publications

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Journal: Cancers

Published: April 07, 2020

A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.

A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.

Journal: Molecular biology reports

Published: April 04, 2020

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

Journal: International journal of molecular sciences

Published: May 06, 2019

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Journal: Molecular diagnosis & therapy

Published: December 04, 2018

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 29, 2017

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Journal: Molecular diagnosis & therapy

Published: June 17, 2017

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 10, 2017

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.

Journal: Breast cancer research and treatment

Published: February 14, 2017

CYP21A2 intronic variants causing 21-hydroxylase deficiency.

CYP21A2 intronic variants causing 21-hydroxylase deficiency.

Journal: Metabolism: clinical and experimental

Published: January 11, 2017

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Journal: Case reports in genetics

Published: January 16, 2015

Showing 1-10 of 10

Last Updated: 09/26/2026