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Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery.
Irelli, Azzurra; Patruno, Leonardo Valerio; Chiatamone Ranieri, Sofia; Di Giacomo, Daniela; Malatesta, Sara; Alesse, Edoardo; Tessitore, Alessandra; Cannita, Katia.
Afiliación
  • Irelli A; Medical Oncology Unit, Department of Oncology, "Giuseppe Mazzini" Hospital, AUSL 04 Teramo, 64100 Teramo, Italy.
  • Patruno LV; Medical Oncology Unit, Department of Oncology, "Giuseppe Mazzini" Hospital, AUSL 04 Teramo, 64100 Teramo, Italy.
  • Chiatamone Ranieri S; Pathology Unit, Department of Services, AUSL 04 Teramo, 64100 Teramo, Italy.
  • Di Giacomo D; Pathology Unit, Department of Services, AUSL 04 Teramo, 64100 Teramo, Italy.
  • Malatesta S; Pathology Unit, Department of Services, AUSL 04 Teramo, 64100 Teramo, Italy.
  • Alesse E; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.
  • Tessitore A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.
  • Cannita K; Medical Oncology Unit, Department of Oncology, "Giuseppe Mazzini" Hospital, AUSL 04 Teramo, 64100 Teramo, Italy.
Biomedicines ; 12(4)2024 Mar 22.
Article en En | MEDLINE | ID: mdl-38672070
ABSTRACT
Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC (BRCA1, BRCA2, PALB2, CDH1, PTEN, STK11 and TP53), and moderate-risk genes, i.e., a two to four times higher risk of BC (BARD1, CHEK2, RAD51C, RAD51D and ATM). Pathogenic germline variants (PGVs) in HBOC genes confer an absolute risk of BC that changes according to the gene considered. We illustrate and compare different BC risk estimation models, also describing their limitations. These models allow us to identify women eligible for genetic testing and possibly to offer surgical strategies for primary prevention, i.e., risk-reducing mastectomies and salpingo-oophorectomies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Biomedicines Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Biomedicines Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza