2. Liede A, Narod S A:Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 2002; 20: 413-424. 3. US Preventive Services Task Force, Owens DK, Davidson KW, et al. Risk assessment, genetic counseling, and genetic test...
BRCA是BReast CAncer gene的缩写,顾名思义,乳腺癌基因。金博士发现BRCA1基因,4年后也就是1994年,科学家进一步发现了BRCA2基因,BRCA2基因位于13号染色体上。 每个人都会有这两个基因。其实并不是有BRCA1 和 BRCA2的人更容易得癌症,相反,他们是抗癌基因,他们是“好”基因。他们可以产生肿瘤抑制蛋白,就和“维修工...
乳腺癌易感基因(breast cancer gene 1,BRCA1)和乳腺癌易感基因2(breast cancer gene 2,BRCA2)在乳腺癌发病、预防、治疗及预后方面扮演重要角色。《肿瘤瞭望》邀请乳腺癌领域大咖、上海瑞金医院李亚芬教授、上海长征医院秦文星教授和复旦大学附属华山医院汪洁教授...
1 (Page eight.) Each person inherits two copies of the BRCA1/ BRCA2 genes-one copy from each parent. It is the gene mutation, not thedoi:10.1097/01.NPatricia A KellyLaurie M ConnorsThe Nurse practitioner
[4]K. N. Chi et al. Niraparib plus abiraterone acetate with prednisone in patients with metastatic castration-resistant prostate cancer and homologous recombination repair gene alterations: second interim analysis of the randomized phase III MAGNITUDE trial. Ann Oncol 2023 Sep;34(9):772-782. ...
[27]Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY et al: A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature genetics 2015, 47...
testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in ...
从功能层面简单地说,肿瘤发生发展的过程中伴随着“原癌基因(proto-ongogene)”的激活和“抑癌基因(tumor suppressor gene)”的失活。对应的,基因突变可以分为激活突变和失活突变。如果一个基因的突变促进疾病的发生发展,我们称其为“致病性突变”;反之,我们称其为“良性突变”。从突变的来源来说,如果这个突变从生...
testing results and may initiate behavioral and lifestyle changes. The patients with a BRCA1/2 mutation desire knowledge with regard to genetic aspects in mainland China. Professional information and advice can be provided to relieve the patients' negative emotions when they were informed of gene ...
HUANG H, SHEN Y P, GU W H, et al. Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry[J]. Chin J Med Genet, 2018, 35(1): 1-8. [41] CHEN S N, PARMIGI...