Arianna Panfili

Rome, Italy

Last Updated: 09/26/2026

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Found 13 publications

Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.

Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.

Journal: Frontiers in oncology

Published: February 15, 2026

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.

Journal: Targeted oncology

Published: October 06, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Journal: Genes

Published: March 19, 2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Journal: BJC reports

Published: February 13, 2025

Impact of Comprehensive Genome Profiling on the Management of Advanced Non-Small Cell Lung Cancer: Preliminary Results From the Lung Cancer Cohort of the FPG500 Program.

Impact of Comprehensive Genome Profiling on the Management of Advanced Non-Small Cell Lung Cancer: Preliminary Results From the Lung Cancer Cohort of the FPG500 Program.

Journal: JCO precision oncology

Published: October 07, 2024

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

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

Published: August 12, 2024

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Journal: Journal of cardiovascular development and disease

Published: March 01, 2024

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Journal: Annals of laboratory medicine

Published: January 25, 2024

Natural history in Malan syndrome: survey of 28 adults and literature review.

Natural history in Malan syndrome: survey of 28 adults and literature review.

Journal: Orphanet journal of rare diseases

Published: October 25, 2023

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Journal: Clinical genetics

Published: June 08, 2023

Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?

Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?

Journal: European journal of medical genetics

Published: April 15, 2021

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Last Updated: 09/26/2026