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Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Genes - 12 Aug 2020

Foglietta Jennifer, Ludovini Vienna, Bianconi Fortunato, Pistola Lorenza, Reda Maria Sole, Al-Refaie Antonella, Tofanetti Francesca Romana, Mosconi Annamaria, Minenza Elisa, Anastasi Paola, Molica Carmen, Stracci Fabrizio, Roila Fausto

Abstract excerpt

Hereditary breast and ovarian cancers are mainly linked to variants in BRCA1/2 genes. Recently, data has shown that identification of BRCA variants has an immediate impact not only in cancer prevention but also in targeted therapeutic approaches. This prospective observational study characterized the overall germline BRCA variant and variant of uncertain significance (VUS) frequency and spectrum in individuals...

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Genes, BRCA1
Genes, BRCA2
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Population Surveillance

Risk Assessment

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PMID: 32806537
DOI: 10.3390/genes11080925
PMCID: PMC7464094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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