BRCA1/2基因和突变 BRCA1和BRCA2是乳腺癌易感基因(breast cancer susceptibility gene,BRCA),是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复(homologous recombination repair)。同源重组缺陷(homologous recombination deficiency,HRD)可以由BRCA1/2基因突变...
[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. [5...
Genetic testing of him, his son, and his daughter showed that they all had mutations in this gene, and it is noteworthy that the type of BRCA2 mutation in his son has never been reported before, which is rare in clinical practice.Zhengsheng Liu...
cancer genome panel testing in a total of 31 Japanese male patients with advanced/metastatic breastcancer. As a result of cancer genome testing, two genes (BRCA1, BRCA2) belonging to the homologues recombination gene family with germline pathogenic variants (gPVs) were detected in a total of ...
or other cancer-related gene mutations that are not detected by this test. For this reason, a negative test result could still mean that a person has an increased risk of cancer due to gene mutations. Additionally, most cases of cancer are not caused by hereditary gene mutations but are tho...
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and to lead to therapeutic and preventive breakthroughs. Much has been learned during the past decade about ...
18、-jarai z,leongamornlert d,saunders e,et al.brca2 is a moderate penetrance gene contributing to young-onset prostate cancer:implications for genetic testing in prostate cancer patientsj.british journal of cancer,2011,105(8):1230-1234.6 agalliu i,gern r,leanza s,et al.associations of hi...
In addition, Genotype-Identity-by-Descent Sharing Test results suggest that Gln(356)Arg accounts (in part) for our prior evidence of prostate cancer linkage to chromosome 17q21 (P = 0.022). Thus, we have identified a common, nonsynonymous substitution in the BRCA1 gene that is associated ...
BReast CAncer gene 1 (BRCA1) and BReast CAncer gene 2 (BRCA2) encode for tumor suppressor proteins which are critical regulators of the Homologous Recombination (HR) pathway, the most precise and important DNA damage response mechanism. Dysfunctional HR
"Not enough men are getting genetic testing to see if they carry a BRCA1 or BRCA2 gene variant that increases their cancer risk," said lead author Heather Cheng, MD, Ph.D., the director of the Fred Hutch Prostate Cancer Genetics Clinic. "And the men who know they are carriers get tes...