遗传性乳腺癌：BRCA 突变及其他。
Hereditary Breast Cancer: BRCA Mutations and Beyond.
发表日期：2024 Jul
作者：
Miral M Patel, Beatriz Elena Adrada
来源：
GENES & DEVELOPMENT
摘要：
遗传性乳腺癌表现为致病性和可能致病性基因突变。外显率表示与这些基因突变相关的乳腺癌风险。尽管 BRCA1/2 是与乳腺癌相关的最广为人知的基因突变，但许多其他基因也表现出较高和中等的乳腺癌外显率。本综述描述了当前的基因检测，详细介绍了乳腺癌的特定高和中外显率基因，并回顾了当前对携带这些基因突变的患者进行乳腺癌筛查的方法。版权所有 © 2023 Elsevier Inc. 保留所有权利。
Hereditary breast cancers are manifested by pathogenic and likely pathogenic genetic mutations. Penetrance expresses the breast cancer risk associated with these genetic mutations. Although BRCA1/2 are the most widely known genetic mutations associated with breast cancer, numerous additional genes demonstrate high and moderate penetrance for breast cancer. This review describes current genetic testing, details the specific high and moderate penetrance genes for breast cancer and reviews the current approach to screening for breast cancer in patients with these genetic mutations.Copyright © 2023 Elsevier Inc. All rights reserved.