Cancer risks associated with BRCA1 and BRCA2: Overview and management

IF 5.6 2区 医学 Q1 ONCOLOGY
Cancer Pub Date : 2026-10-14 DOI:10.1002/cncr.70635
Kelsey E. Breen MS, MSc, Shagun Vashisth MD, Ying L. Liu MD, MPH
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引用次数: 0

Abstract

The BRCA1 and BRCA2 tumor suppressor genes are integral to the repair of DNA double-strand breaks. Therefore, germline pathogenic variants (PVs) in either of these genes are associated with an increased risk of developing hereditary cancers. For over 30 years, studies have demonstrated a well established and markedly increased lifetime risk of female breast cancer and ovarian cancer for individuals with a PV in BRCA1 or BRCA2. Additional canonical cancers include prostate cancer, pancreatic cancer for males and females, and male breast cancer. Several noncanonical cancers have also been reported in association with BRCA1 or BRCA2, including stomach cancer and endometrial cancer. This review summarizes the established and evolving cancer risks associated with germline PVs in BRCA1 or BRCA2 as well as current clinical management recommendations. With increased uptake and diversified utility of germline genetic testing, this summary provides a current overview for clinical management of both male and female individuals with a PV in BRCA1 or BRCA2.

与BRCA1和BRCA2相关的癌症风险:概述和管理。
BRCA1和BRCA2肿瘤抑制基因对DNA双链断裂的修复是不可或缺的。因此,这些基因中的任何一种种系致病变异(pv)都与发生遗传性癌症的风险增加有关。30多年来,研究已经证实,具有BRCA1或BRCA2基因PV的个体患女性乳腺癌和卵巢癌的终生风险显著增加。其他典型癌症包括前列腺癌、男性和女性的胰腺癌以及男性乳腺癌。一些非典型癌症也被报道与BRCA1或BRCA2相关,包括胃癌和子宫内膜癌。这篇综述总结了与BRCA1或BRCA2种系pv相关的已建立的和正在发展的癌症风险,以及目前的临床管理建议。随着生殖系基因检测的普及和应用的多样化,本综述提供了目前男性和女性BRCA1或BRCA2基因PV个体的临床管理概况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Cancer
Cancer 医学-肿瘤学
CiteScore
13.10
自引率
3.20%
发文量
480
审稿时长
2-3 weeks
期刊介绍: The CANCER site is a full-text, electronic implementation of CANCER, an Interdisciplinary International Journal of the American Cancer Society, and CANCER CYTOPATHOLOGY, a Journal of the American Cancer Society. CANCER publishes interdisciplinary oncologic information according to, but not limited to, the following disease sites and disciplines: blood/bone marrow; breast disease; endocrine disorders; epidemiology; gastrointestinal tract; genitourinary disease; gynecologic oncology; head and neck disease; hepatobiliary tract; integrated medicine; lung disease; medical oncology; neuro-oncology; pathology radiation oncology; translational research
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