Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Giovanni InnellaCristina FortunoLaura CalecaBing-Jian FengCourtney CarrollMichael T ParsonsSara MiccoliMarco MontagnaDaniele CalistriLaura CortesiBarbara PasiniSiranoush ManoukianDaniela GiachinoLaura MatricardiMaria Cristina FotiValentina ZampigaClaudia PiombinoElena BarbieriFrancesca Vignolo LutatiJacopo AzzoliniRita DanesiValentina ArcangeliSandrine M CaputoNadia Boutry-KryzaVincent GoussotSusan HirakiMarcy E Richardsonnull nullSimona FerrariPaolo RadiceAmanda B SpurdleDaniela TurchettiPublished in: Cancer medicine (2024)
Pathogenicity of BRCA1:c.5017_5019del(p.His1673del) has been confirmed; however, breast cancer risk in Italian families is not increased, unlike in families from other countries and in carriers of most BRCA1 pathogenic variants. The knowledge of atypical risk profiles for this and other variants will pave the way for personalized management based on specific genotype.