| 谷 微,金 狄,雷慧君,等.遗传性乳腺癌的筛查与预防研究进展[J].肿瘤学杂志,2024,30(7):531-538. |
| 遗传性乳腺癌的筛查与预防研究进展 |
| Research Progress on Screening and Prevention of Hereditary Breast Cancer |
| 投稿时间：2024-04-29 |
| DOI：10.11735/j.issn.1671-170X.2024.07.B001 |
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| 中文关键词: 遗传性乳腺癌 BRCA1/2 种系突变 筛查 预防 |
| 英文关键词:hereditary breast cancer BRCA1/2 germline mutation screening prevention |
| 基金项目:国家重点研发计划“政府间国际科技创新合作”重点专项项目（2019YFE0198800）；浙江省万人计划科技创新领军人才项目（2021R52020） |
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| 中文摘要: |
| 摘 要：遗传性乳腺癌是指由乳腺癌易感基因致病性种系突变所致的恶性肿瘤。BRCA1/2等易感基因突变与乳腺癌终生风险升高密切相关。乳腺癌筛查技术和方法的不断革新，为早期发现乳腺癌和预防干预提供了可能；早期识别高危风险人群已经成为遗传性乳腺癌筛查与预防工作的重要突破点。全文综述国内外遗传性乳腺癌筛查与预防现状，重点探讨了遗传性乳腺癌的风险评估、基因检测和遗传咨询。 |
| 英文摘要: |
| Abstract： Hereditary breast cancer is associated with pathogenic germline mutations of susceptibility genes such as BRCA1/2， which increase the lifetime risk of breast cancer. Early detection of high risk individuals has become an important breakthrough in screening and prevention of hereditary breast cancer， while the advancements in screening techniques make it possible. This paper reviews the state quo of screening and prevention of hereditary breast cancer in China and abroad， focusing on risk assessment， genetic testing， and genetic counseling for patients with hereditary breast cancer. |
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