Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery

Overview

Journal Biomedicines

Specialty Biomedical Engineering

Date 2024 Apr 27

PMID 38672070

Authors

Azzurra Irelli

Leonardo Valerio Patruno

Sofia Chiatamone Ranieri

Daniela Di Giacomo

Sara Malatesta

Edoardo Alesse

Alessandra Tessitore

Katia Cannita

Affiliations

Soon will be listed here.

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 (, , , , , and ), and moderate-risk genes, i.e., a two to four times higher risk of BC (, , , and ). 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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