Davide Bondavalli
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View article: The contemporary role of genetics in cardiovascular medicine: from phenotypes to precision diagnoses
The contemporary role of genetics in cardiovascular medicine: from phenotypes to precision diagnoses Open
The diagnostic work-up of cardiovascular genetic diseases is emerging as a reference model for precision (cause and phenotype) and personalized medicine (tailored individual management). This approach is expanding across all areas of cardi…
View article: Four pathogenic variants co-occurring in a MINAS early-onset breast cancer
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer Open
Introduction Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature an…
View article: The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions
The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions Open
In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as ‘myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease…
View article: 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 Open
Germline pathogenic variants (PVs) in the BRCA1 or BRCA2 genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the Bergamo province in Northern Italy. The aim of this study was to com…
View article: Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses Open
View article: Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness Open
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gle…
View article: Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses Open
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, p…
View article: [Erratum] BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report
[Erratum] BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Open
[This corrects the article DOI: 10.3892/ol.2017.7711.].
View article: BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report
BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Open
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRC…