乳腺癌风险评估模型在识别适合基因检测和降低风险手术的女性中的作用。

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

作者信息

Irelli Azzurra, Patruno Leonardo Valerio, Chiatamone Ranieri Sofia, Di Giacomo Daniela, Malatesta Sara, Alesse Edoardo, Tessitore Alessandra, Cannita Katia

机构信息

Medical Oncology Unit, Department of Oncology, "Giuseppe Mazzini" Hospital, AUSL 04 Teramo, 64100 Teramo, Italy.

Pathology Unit, Department of Services, AUSL 04 Teramo, 64100 Teramo, Italy.

出版信息

Biomedicines. 2024 Mar 22;12(4):714. doi: 10.3390/biomedicines12040714.

DOI:10.3390/biomedicines12040714

PMID:38672070

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11048717/

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.

摘要

遗传性乳腺癌和卵巢癌（HBOC）综合征约占乳腺癌（BC）病例的10%。HBOC基因组合既包括高风险基因，即患乳腺癌风险高出四倍（、、、、、和），也包括中度风险基因，即患乳腺癌风险高出两至四倍（、、、和）。HBOC基因中的致病种系变异（PGV）赋予的乳腺癌绝对风险会因所考虑的基因而异。我们阐述并比较了不同的乳腺癌风险评估模型，同时也描述了它们的局限性。这些模型使我们能够确定适合进行基因检测的女性，并有可能提供一级预防的手术策略，即降低风险的乳房切除术和输卵管卵巢切除术。