乳腺癌序列变异载体中超值乳头乳腺癌的影响:一个案例报告
Will Sperduto1, Ann McCullough2, Donald Northfelt3
1Department of Radiation Oncology, Mayo Clinic, Phoenix, AZ.
Mayo Clinic proceedings. Innovations, quality & outcomes
|September 27, 2023
概括
带有BRCA基因突变的女性携带超数乳头应该进行手术切除它们. 这解决了乳腺癌在这些辅助乳头中发展的风险,特别是在降低风险的手术后.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 手术瘤学手术瘤学
背景情况:
- 额外的乳头,位于胚胎乳线上,具有可变的解剖学,从简单的乳头到完整的乳腺组织形成.
- 致病性BRCA (乳腺癌) 基因变异显著增加乳腺癌风险,需要采取降低风险的策略.
- 超数乳头的宫外乳腺组织具有较低的恶性瘤患病率,导致BRCA载体缺乏管理指南.
研究的目的:
- 突出BRCA载体中超数乳头的管理挑战.
- 为了呈现一个乳腺癌的情况,在一个超数的乳头后风险降低手术中产生.
- 建议在这种情况下进行外科治疗的建议.
主要方法:
- 一个62岁的BRCA-1携带者,有乳腺癌史的病例报告.
- 审查现有的文献和指导方针关于超数乳头和BRCA突变.
- 对减少风险的外科手术管理选择进行分析.
主要成果:
- 尽管接受了降低风险的手术,但该患者的乳房癌在额外的乳头上发展了.
- 目前还没有关于BRCA携带者的超数乳头手术管理的共识.
- 为全面降低风险,建议对额外的乳头和宫外乳腺组织进行广泛局部切除.
结论:
- 由于潜在的恶性瘤,BRCA携带者的超数乳头构成了独特的临床挑战.
- 在降低风险的手术前,对额外的乳头进行彻底的体检至关重要.
- 应考虑切除额外乳头和宫外乳腺组织的手术切除,以减少BRCA携带者的风险.
相关概念视频
02:26Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
01:21Nondisjunction
3.9K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.9K
02:21Cancers Originate from Somatic Mutations in a Single Cell
12.0K
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...
12.0K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
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...
7.5K