由于BRCA1和BRCA2遗传突变造成的乳腺癌和卵巢癌风险
Mary-Claire King1, Joan H Marks, Jessica B Mandell
1Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA. mcking@u.washington.edu
Science (New York, N.Y.)
|October 25, 2003
概括
阿什基纳兹犹太妇女与BRCA1/BRCA2突变面临高终身风险的乳腺癌 (82%) 和卵巢癌 (54%的BRCA1,23%的BRCA2). 运动等生活方式因素可能会延迟乳腺癌的发病.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 在BRCA1和BRCA2瘤抑制基因的遗传突变显著增加乳腺和卵巢癌的风险.
- 阿什基纳兹犹太人口中,特定的BRCA1/BRCA2创始基因突变的患病率更高.
研究的目的:
- 确定携带BRCA1/BRCA2突变的阿什肯纳兹犹太妇女患乳腺癌和卵巢癌的终身风险.
- 研究出生队列和生活方式因素与突变载体癌症发病的关联.
主要方法:
- 在1008个索引病例及其家族中对BRCA1和BRCA2基因进行分子分析.
- 基于突变状态,家族史,出生队列和生活方式因素的癌症发病率和风险的回顾性分析.
主要成果:
- 在女性BRCA1/BRCA2突变载体中,终身乳腺癌风险为82%.
- 50岁时乳腺癌风险在1940年后出生的携带者中显著增加 (67%),而在1940年之前出生的人 (24%).
- 生涯卵巢癌的风险为BRCA1携带者54%,BRCA2携带者23%. 青少年的体力活动和较低的肥胖程度与延迟乳腺癌发病有关.
结论:
- 阿什基纳兹犹太妇女 BRCA1/BRCA2 突变有巨大的一生患乳腺癌和卵巢癌的风险.
- 增加的发病率表明潜在的依赖时间的风险或随着时间的推移改进的检测.
- 青春期的生活方式改变可能在减轻突变载体乳腺癌风险方面发挥作用.
更多相关视频
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
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
相关概念视频
02:21Cancers Originate from Somatic Mutations in a Single Cell
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...
01:33Cancer-Critical Genes I: Proto-oncogenes
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...
01:12Loss of Tumor Suppressor Gene Functions
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
02:59Cancer Prevention
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...
01:20The Retinoblastoma Gene
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,...
01:24Disorders of the Female Reproductive System
The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...