Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian cancer, and may be at moderately increased risk of other cancer types. This review examines studies to date that have evaluated the risk of BRCA1 and BRCA2 mutations for colorectal cancer. Accurate knowledge ...
Immune checkpoint blockade (ICB) has improved outcomes for patients with advanced cancer, but the determinants of response remain poorly understood. Here we report differential effects of mutations in the homologous recombination genesBRCA1andBRCA2on response to ICB in mouse and human tumors, and furt...
Patients with BRCA2 mutation have been reported to have an overall 3.5-fold risk of developing pancreatic cancer compared with the general population (The Breast Cancer Linkage Consortium, 1999). The BRCA tumour suppressors are involved in the repair of DNA double-strand breaks (DSB) and DNA ...
此外,发现该患者表现出低微卫星不稳定性(MSI-L:5.32%)、中等肿瘤突变负荷(TMB-M: 2.64 Muts/Mb)、低肿瘤新生抗原负荷(TNB-L:0.38 Neos/Mb)和人类白细胞抗原(HLA)杂合性丢失(LOH)呈强阳性(表1和2)。 图2 BRCA2 移码突变的IGV截图 表1 患者的体系突变 (待续) 表1 患者的体系突变 表2 患者的胚系突变...
Cancer Risks in BRCA1 and BRCA2 Mutation Carriers As a result of the increasing effectiveness of cancer screening and preventive interventions, ethical issues, as well as legal liabilities, are increasingl... K Offit,P Thom - Hereditary Breast Cancer 被引量: 403发表: 2007年 ...
Advanced-stage BRCA-mutated HGOC patients reported PFS benefit from maintenance olaparib and bevacizumab regardless of mutation location. The benefit is particularly high for patients with mutations located in the DBD of BRCA1. Mutations located in the DBD of BRCA2 are also associated with excellent...
(p < 0.001). Twelve patients had BRCA1 mutations, and 14 patients had BRCA2 mutations, while no patients had mutations in both genes. The BRCA1/2 mutation rate was higher in younger patients (23.4 vs. 11.1%, p = 0.036). SBBC patients with a family history of breast cancer or ...
In addition, BRCA1 mutation carriers have a 30-40% chance of developing ovarian cancer, while BRCA2 mutations also increase the risk of ovarian, pancreatic, prostate, and male breast cancer [2]. Cancers occur when heterozygous individuals experience a somatic loss of heterozygosity event at the ...
Mutation spectrum and prevalence ofBRCA1 andBRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our stud... A.,...
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. SummaryBackground: Women with a mutation in BRCA1 or BRCA2 have a high risk of developing breast cancer and of contralateral cancer after the initial diagn... Narod,Steven,A,... ...