BRCA1/2基因检测在恶性肿瘤中的应用

李萌辉; 刘俊田

doi:10.3969/j.issn.1000-8179.2019.07.197

BRCA1/2基因检测在恶性肿瘤中的应用

doi: 10.3969/j.issn.1000-8179.2019.07.197

李萌辉,
刘俊田^,

天津医科大学肿瘤医院预防科，国家肿瘤临床医学研究中心，天津市肿瘤防治重点实验室，天津市恶性肿瘤临床医学研究中心，乳腺癌防治教育部重点实验室（天津市300060）

详细信息

作者简介:
李萌辉专业方向为肿瘤防治及肿瘤发病机制研究。E-mail：limenghui820117@163.com

通讯作者:
刘俊田 ljt641024@163.com

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- 文章访问数: 84
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- 被引次数: 0
出版历程
- 收稿日期: 2019-03-06
- 修回日期: 2019-04-12
- 刊出日期: 2019-04-15

Implication of BRCA1/2 gene detection in malignant tumors

Li Menghui,
Liu Juntian^,

Department of Cancer Prevention, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin Key Laboratory of Breast Cancer Prevention and Therapy, Tianjin Medical University (Ministry of Education), Tianjin 300060, China

More Information

Corresponding author: Juntian Liu; E-mail:ljt641024@163.com

摘要

摘要: 乳腺癌易感基因BRCA1/2（breast cancer gene 1/2）在细胞DNA损伤和修复通路中发挥着关键作用，对于保持基因组的完整性至关重要。早期研究发现BRCA1/2是遗传性乳腺癌/卵巢癌综合征的主要致病因素，BRCA1/2突变携带者罹患乳腺癌和卵巢癌的风险大幅增加；近年研究表明，BRCA1/2突变增加了结肠癌、胰腺癌、皮肤癌以及男性前列腺癌等的发病风险。BRCA1/2突变患者存在共同的分子病理基础，将来可能独立于病理组织诊断之外，作为临床药物治疗的重要依据，包括铂类为代表的化疗药、PARP抑制剂、PD-1抗体、ALDH2抑制剂、mTOR抑制剂等。
- BRCA1 /
- BRCA2 /
- 恶性肿瘤
Abstract: Tumor suppressor genes breast cancer gene 1/2 (BRCA1/2) play key roles in DNA damage repair pathways and are essential for maintaining genome integrity. The earliest studies found that BRCA1/2 are the main pathogenic factors of hereditary breast/ovarian cancer syndrome, and the risk of breast cancer and ovarian cancer is greatly increased in BRCA1/2 mutation carriers. Recent studies have demonstrated that BRCA1/2 mutations also increased the risk of developing colon cancer, pancreatic cancer, skin cancer, and male prostate cancer. BRCA1/2 mutation patients have common molecular pathological basis, which may be independent of pathological tissue diagnosis in the future. Furthermore, it can serve as an important basis for clinical drug therapy, including chemotherapy drugs represented by platinum, PARP inhibitors, PD-1 antibodies, ALDH2 inhibitors, and mTOR inhibitors.
- breast cancer gene 1 (BRCA1) /
- breast cancer gene 2 (BRCA2) /
- malignant tumor

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参考文献(24)

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