在以色列BRCA1/BRCA2致病序列变异携带者中,在70岁后诊断出乳腺癌:一个单一机构的经验
Hila Bufman1, Renata Faermann1,2, Osnat Halshtok-Neiman1,2
1The Institute of Radiology, Sheba Medical Center, 1 Emek Ha-Ella St, 5265601, Tel-Hashomer, Israel.
Breast cancer research and treatment
|February 21, 2024
概括
在70岁以后,对BRCA1/BRCA2病原性序列变异 (PSV) 载体进行乳腺癌监测,可在约10%的女性中检测出新的癌症. 这些发现表明,目前的监测指南可能需要修订,以将查扩展到75岁.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 放射学 放射学是一门学科.
背景情况:
- 携带BRCA1/BRCA2病原性序列变异 (PSV) 携带者从25-30岁开始进行半年监测,以早期检测乳腺癌 (BC).
- 对于70岁以上的航空公司,这种监控计划的有效性存在有限的数据.
研究的目的:
- 为了评估乳腺癌监测在70岁以后的女性BRCA1/BRCA2PSV携带者的产量.
- 确定这种高风险人群中BC诊断的频率和特征.
主要方法:
- 从一个高风险诊所对88名70岁及以上的女性BRCA1/BRCA2PSV携带者进行了回顾性分析.
- 收集的数据包括使用的成像方法,乳腺活检和70岁后的组织学结果.
主要成果:
- 11.3% (10/88) 的参与者在70岁 (平均年龄72岁) 后被诊断出患有BC.
- 磁共振成像 (MRI) 是诊断最有效的成像方式 (8/11例).
- 大多数70BC后的病例 (8/10) 是先前有BC诊断的妇女,通常在对侧乳房.
结论:
- 大约10%的BRCA1/BRCA2PSV携带者在70岁后通过成像诊断出BC.
- 目前对高风险女性BC监测的指导方针可能需要重新考虑,可能将推的查年龄延长到75岁.
相关概念视频
Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K
mTOR Signaling and Cancer Progression
3.8K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.8K
Cancer Survival Analysis
346
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
346
Tumor Progression
6.3K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.3K
Cancers Originate from Somatic Mutations in a Single Cell
11.9K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.9K
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K


