6533b857fe1ef96bd12b3c11

RESEARCH PRODUCT

Hereditary breast and ovarian cancer in families from southern Italy (Sicily)—Prevalence and geographic distribution of pathogenic variants in BRCA1/2 genes

Valentina CalòMarta CastigliaViviana BazanGiuseppe BadalamentiD. CancelliereAntonio RussoLorena IncorvaiaSofia CutaiaA. FiorinoNadia BarracoFanale DMarco BonoA. Pivetti

subject

0301 basic medicineCancer Researchendocrine system diseasesPopulationSicilian populationBiologylcsh:RC254-282hereditary breast and ovarian cancerArticleGermlinefounder variantsgenetic testing03 medical and health sciences0302 clinical medicineBreast cancerbreast cancermedicineskin and connective tissue diseaseseducationGeneGenetic testinggermline pathogenic varianteducation.field_of_studyfounder variantmedicine.diagnostic_testGenetic heterogeneitylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseBRCA1BRCA2language.human_language<i>BRCA1</i>030104 developmental biologyovarian cancerOncology030220 oncology & carcinogenesiscardiovascular systemlanguagegermline pathogenic variantsOvarian cancerSicilian<i>BRCA2</i>Demography

description

Recent advances in the detection of germline pathogenic variants (PVs) in BRCA1/2 genes have allowed a deeper understanding of the BRCA-related cancer risk. Several studies showed a significant heterogeneity in the prevalence of PVs across different populations. Because little is known about this in the Sicilian population, our study was aimed at investigating the prevalence and geographic distribution of inherited BRCA1/2 PVs in families from this specific geographical area of Southern Italy. We retrospectively collected and analyzed all clinical information of 1346 hereditary breast and/or ovarian cancer patients genetically tested for germline BRCA1/2 PVs at University Hospital Policlinico &ldquo

yearjournalcountryeditionlanguage
2020-05-01
10.3390/cancers12051158http://hdl.handle.net/10447/431345