Materials and Methods We analyzed FMR1 genotype status in 99 BRCA -positive (50 BRCA-1 and 49 BRCA-2 carriers) and 182 healthy random control women and evaluated the relationships between BRCA1/2 mutations, menarche and menopausal age in reference to FMR1 genotypes (sub-genotypes were assessed ...
The risk of developing cancer is not identical for all carriers of BRCA1 and BRCA2 mutations. Risk can be influenced by allelic heterogeneity, modifier genes, and environmental and hormonal cofactors. Abstract The discovery of the first gene associated with hereditary breast cancer, BRCA1, was ant...
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 genes BRCA1 and BRCA2 on
Identification of germline mutations associated with significant cancer susceptibility has the potential to change all aspects of an individual's care, from screening to cancer treatment. For example, women with germline mutations in BRCA1 and BRCA2 have markedly elevated risks of breast and ovarian ...
A Model Protocol for Evaluating the Behavioral and Psychosocial Effects of BRCA1 Testing To date, screening for BRCA1 mutations in the general population has been inhibited by the large number of mutations identified in this gene. However, ... JR Botkin,RT Croyle,KR Smith,... - 《Journal ...
2 结果 2.1 癌组织、良性乳腺病变组织和相邻正常乳腺组织中HER2和BRCA1 mRNA表达 RTFQ-PCR结果显示,良性乳腺病变组织和相邻正常乳腺组织中BRCA1 mRNA表达差异无统计学意义(P<0.05),癌组织相比其他两组BRCA1 mRNA表达显著降低(P<0.01,图1A...
Mutations in BRCA1 and BRCA2 are associated with better survival in ovarian cancer (OC) patients due to a better response to platinum-based chemotherapy. However, the impact of the BRCA1/2 mRNA-expression is not well characterized in OC. We investigated
Testing for germline BRCA1/2 mutations has an established predictive role in breast cancer risk assessment. More recently, studies have also identified BRCA1/2 status as clinically relevant in the selection of therapy for patients already diagnosed with
The spectrum of mutations in BRCA1 and BRCA2 among African Americans has not been well characterized because most studies to date have been done in Caucasian families. According to Myriad Genetic Laboratories, Inc., only approximately 3% of individuals undergoing BRCA1/BRCA2 testing reported African...
BACKGROUND: Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BR... P Julian,C Nadine,B Rita,... - 《J Natl...