在具有高风险乳腺病变的生殖系致病变体携带者中,升级率和乳腺癌发病率
Alison Laws1,2,3, Saskia Leonard1,4, Emma Hershey5
1Division of Breast Surgery, Department of Surgery, Brigham and Women's Hospital, Boston, MA, USA.
Annals of surgical oncology
|January 23, 2024
概括
具有基因变异的患者的高风险乳腺病变的升级率与非携带者相似. 这些病变可能会增加短期雌激素受体阳性乳腺癌的风险,这表明手术或化疗预防疗法.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学是一种遗传学.
- 病理学 病理学 病理学
背景情况:
- 高风险病变 (HRL) 是乳腺癌前体,可能表明并发性恶性病变.
- 在乳腺癌倾向基因中具有生殖系致病变体 (PVs) 的个体中,关于HRLs的数据有限.
研究的目的:
- 为了评估生殖线PVs患者的HRL升级率.
- 为了评估这一群体的短期乳腺癌风险.
主要方法:
- 来自两个机构的生殖线PV和HRL (ADH,FEA,LN) 的患者的回顾性审查.
- 使用Kaplan-Meier方法计算外科切除和3年乳腺癌风险的升级率.
主要成果:
- 在117种病变中,55.6%是ADH,41.0%是LN和3.4%是FEA. 大多数PV都在BRCA1/2,CHEK2和ATM基因中.
- 对ADH的升级率为11.8%,对于LN的升级率为4.8%. 没有FEA的升级.
- 在未升级的病变中,3年乳腺癌风险为13.1%,主要是ER+疾病.
结论:
- 光伏载体中的HRL升级率与非载体相比较.
- 光伏载体中的HRL可能与短期ER+乳腺癌风险的增加有关,支持手术或化疗预防干预.
关键词:
非典型的管道增生症.非典型的叶片状增生症.这就是BRCA BRCA.细菌系突变的载体 细菌系突变的载体高危病变的高风险病变在位的叶叶状癌 (lobular carcinoma)致病性变体是一种致病性变体.更多相关视频
08:53Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
14.7K
13:04In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
13.1K
相关概念视频
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
Cancer-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
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
Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
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...
7.4K
Probability Laws
40.8K
Overview
40.8K
