Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

doi:10.1002/cam4.70114

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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

Cancer medicine - 1 Aug 2024

Innella Giovanni, Fortuno Cristina, Caleca Laura, Feng Bing-Jian, Carroll Courtney, Parsons Michael T, Miccoli Sara, Montagna Marco, Calistri Daniele, Cortesi Laura, Pasini Barbara, Manoukian Siranoush, Giachino Daniela, Matricardi Laura, Foti Maria Cristina, Zampiga Valentina, Piombino Claudia, Barbieri Elena, Lutati Francesca Vignolo, Azzolini Jacopo, Danesi Rita, Arcangeli Valentina, Caputo Sandrine M, Boutry-Kryza Nadia, Goussot Vincent, Hiraki Susan, Richardson Marcy, Ferrari Simona, Radice Paolo, Spurdle Amanda B, Turchetti Daniela

Abstract excerpt

BACKGROUND: BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evidence. METHODS: Maximum likelihood penetrance of breast/ovarian and other cancer types was estimated using full pedigree data from 53 informative Italian families. The effect...

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PMID: 39194334
DOI: 10.1002/cam4.70114
PMCID: PMC11350839

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