乳腺癌易感基因(breast cancer susceptibility gene, BRCA)与乳腺癌有着密不可分的关系。BRCA基因的两个成员,即BRCA1和2,分别是在1990年和1994年被分离。 乳腺癌可以分为遗传性乳腺癌和散发性乳腺癌(sporadic breast cancer),散发性乳腺癌指的是没有发现明确的遗传基因改变(完整的癌变点)与乳腺癌家族史的乳腺癌...
[Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene screening, particularly in high-risk individuals with a ...
Researchersanalyzed8DNA9samples from 6,272 women with BRCA2 mutations in a two-stage genome-wide association study. Thechromosome610variant3identified in the study, near thegene1ZNF365, decreased the risk of breast cancer byapproximately(大约,近似)25 percent in women also carrying a mutation of ...
FDA原文如下: The U.S. Food and Drug Administration today authorized the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants). It is the first direct-to-consumer (DTC) test to report on three specific BRCA1/BRCA2 breast cancer gene mutations that are...
For example, recent health economic studies of genetic testing for an increased risk of breast cancer suggest that it is associated with higher cost-effectiveness to screen for pathogenic variants in a seven gene panel rather than the usual two gene test for variants in BRCA1 and BRCA2. ...
BRCA 基因全称为乳腺癌易感基因(breast cancer susceptibility gene,BRCA),主要有两种类型:BRCA1、BRCA2,分别在 1990 年和 1994 年研究遗传性乳腺癌相关病因时被发现。 BRCA1/2 基因均在 DNA 损伤修复、细胞的正常生长方面发挥重要作用,具有抑制肿瘤和促进 DNA 损伤修复的作用。一旦发生突变,其 DNA 损伤修复功能受...
[Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing ...
BRCA1 methylation status in high-grade serous ovarian cancer (HGSOC) patients (pts). Mutations in BRCA1/2 genes contribute to increase risk for breast and ovarian cancer (OC).Hypermethylation of CpG islands in gene promoter regions is considered a frequent mechanism associated with inactivation of...
M. et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am. J. Hum. Genet. 72, 1–12 (2003). CAS PubMed Google Scholar Struewing, J. P. et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among ...
2 germline mutations who receive radiotherapy after surgery may not increase the risk of developing a second primary tumor. [Key words]Breast cancer;BRCA1;BRCA2; Radiotherapy; Second primary cancer 乳腺癌如今已超越肺癌成为全球发...