脏复杂易患乳腺癌:对50名女性进行前性研究
Patricia Vaduva1, Florian Violon1, Anne Jouinot1,2
1Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.
European journal of endocrinology
|January 22, 2024
概括
卡尼综合体 (CNC),通常是由PRKAR1A变体引起的,增加女性患乳腺癌的风险. 早期检测和查对于管理CNC相关的乳腺恶性瘤至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 卡尼综合体 (CNC) 是一种罕见的自体主导性疾病.
- 它的特点是斑点的皮肤色素,心脏和皮肤肌瘤,内分泌瘤.
- 在PRKAR1A基因中的生殖线功能丧失致病变体是CNC的主要原因.
研究的目的:
- 在卡尼复杂症妇女的乳腺病变的特征.
- 研究乳腺病变,CNC表现和PRKAR1A基因型之间的关联.
- 评估CNC患者乳腺癌的风险.
主要方法:
- 一项为期3年的前性多中心研究,涉及50名患有卡尼综合症的女性.
- 分析包括乳腺成像,PRKAR1A变异的基因型定型以及荷尔蒙评估.
- 收集了关于CNC表现和乳腺病变的后续数据.
主要成果:
- 38名女性中有14名 (39%) 患有乳腺病变,其中一半是双边病变.
- 6名女性 (16%) 患有乳腺癌,5名女性在50岁之前患有侵袭性乳腺癌.
- 患有PRKAR1A变异的女性患乳腺癌的几率增加了6.34倍,比普通人群早17年诊断出乳腺癌.
结论:
- 冠状动脉复合体显著地使女性易患乳腺癌.
- 在CNC患者中早期发病的乳腺癌通常具有有利的预后因素.
- PRKAR1A的异构性丧失表明它作为CNC相关乳腺癌中的瘤抑制基因的作用.
- 建议在受影响的女性中针对乳腺癌进行适应的查和随访策略.
相关概念视频
02:59Cancer 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
01:25Mutagenicity and Carcinogenicity
1.3K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.3K
02:07Tumor 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
01:21Cancer Survival Analysis
353
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...
353
01:33Cancer-Critical Genes I: Proto-oncogenes
8.9K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.9K