Giovanna De Vecchi

Milan, Italy

Last Updated: 09/26/2026

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Found 11 publications

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Journal: Tumori

Published: September 11, 2023

Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm.

Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm.

Journal: Endocrine pathology

Published: July 19, 2021

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

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

Journal: Cancers

Published: December 03, 2020

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Journal: Cancers

Published: January 11, 2019

Dynamical charge density fluctuations pervading the phase diagram of a Cu-based high-T c superconductor.

Dynamical charge density fluctuations pervading the phase diagram of a Cu-based high-T c superconductor.

Journal: Science (New York, N.Y.)

Published: August 16, 2018

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Journal: Human mutation

Published: June 01, 2017

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 30, 2017

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Journal: Journal of medical genetics

Published: November 17, 2015

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Journal: Human molecular genetics

Published: February 27, 2014

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Journal: Human mutation

Published: December 14, 2012

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

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

Journal: PloS one

Published: October 05, 2012

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Last Updated: 09/26/2026