Association between 15 known or potential breast cancersusceptibility genes and breast cancer risks

来源 :癌症生物学与医学(英文版) | 被引量 : 0次 | 上传用户:zongduzhicai
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Objective: There are many hereditary breast cancer patients in China, and multigene panel testing has been a new paradigm of genetic testing for these patients and their relatives. However, the magnitude of breast cancer risks related to multiple breast cancer susceptibility genes are largely unknown in Chinese women.Methods: We screened pathogenic variants in 15 established or potential breast cancer susceptibility genes from 8,067 consecutive Chinese female breast cancer patients and 13,129 Chinese cancer-free female controls. These breast cancer patients were unselected for age at diagnosis or family history. Results: We found that pathogenic variants in TP53 [odds ratio (OR): 16.9, 95% confidence interval (CI): 5.2–55.2]; BRCA2 (OR: 10.4, 95% CI: 7.6–14.2); BRCA1 (OR: 9.7, 95% CI: 6.3–14.8); and PALB2 (OR: 5.2, 95% CI: 3.0–8.8) were associated with a high risk of breast cancer. ATM, BARD1, CHEK2, and RAD51D were associated with a moderate risk of breast cancer with ORs ranging from 2-fold to 4-fold. In contrast, pathogenic variants of NBN, RAD50, BRIP1, and RAD51C were not associated with increased risk of breast cancer in Chinese women. The pathogenic variants of PTEN, CDH1, and STK11 were very rare, so they had a limited contribution to Chinese breast cancer. Patients with pathogenic variants of TP53, BRCA1, BRCA2, and PALB2 more often had early-onset breast cancer, bilateral breast cancer, and a family history of breast cancer and/or any cancer. Conclusions: This study provided breast cancer risk assessment data for multiple genes in Chinese women, which is useful for genetic testing and clinical management of Chinese hereditary breast cancer.
其他文献
目的 探究经颅磁刺激对脑卒中患者恢复期运动功能障碍的疗效研究.方法 选取脑卒中恢复期运动功能障碍患者共60例,时间为2020年6月至2021年2月,按照随机数字表法分为观察组(经常规康复训练联合颅磁刺激治疗)及对照组(单纯常规康复训练,不实施经颅磁刺激治疗),每组各30例.比较患者的日常生活活动能力、神经功能缺损情况、不良反应、运动功能评分等.结果 观察组的日常生活活动能力评分较对照组均更高,差异有统计学意义(P0.05),但在治疗后2 h、半个月,观察组均低于对照组,且治疗后半个月较治疗后2 h的NIH
Objective: Cellular heterogeneity is regarded as a major factor affecting treatment response and resistance in malignant melanoma. Recent developments in single-cell sequencing technology have provided deeper insights into these mechanisms. Methods: Here,
Endocrine therapy (ET) remains the mainstay of treatment for steroid hormone receptor-positive, human epidermal growth factor 2 (HER2)-negative metastatic breast cancer (MBC). Tumor resistance to hormone therapy has led to the development of novel endocri