Intronic sequence variants showed no potential impact on splicing because nucleotide changes at that positions likely make no changes in consensus splice site.doi:10.1016/S1359-6349(08)71552-0S. LevanatM. Levacic CvokM. CretnikV. Musani
The RR estimates from studies that selected participants for PCa diagnosis at a young age, PCa family history or aggressive PCa were higher than estimates from studies in unselected participants (BRCA1: test for subgroup differences,P = 0.056,BRCA2: test for subgroup differences,P < 0.0...
MOLECULAR AND CLINICAL ONCOLOGY 15: 222, 2021Abstract. The inf l uence of BRCA1/2 variants of uncertain signif i cance (VUSs) on the cancer risk and their association with the response to treatment is uncertain. The aim of the present study was to evaluate the role of BRCA VUS in pat...
BRCA gene, Breast cancer, Hakka population, Ovarian cancer, Variants. 基因检测临床研究与应用结果介绍: 目的:调查中国客家人乳腺癌和卵巢癌患者BRCA1和BRCA2突变的流行情况和谱。方法:共招募1664例乳腺癌或卵巢癌患者在我院进行基因检测。通过二代测序基因检测分析BRCA基因的种系突变,包括编码区和外显子内含子边...
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays Nicola Bassi Henrikke Nilsen Hovland Marijke Van Ghelue BMC Cancer(2023) Nature Reviews Cancer (Nat Rev Cancer)ISSN1474-1768(online)ISSN1474-175X(print) ...
At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUSs without co...
Two variants were considered to be pathogenic (Class 5). BRCA1:c.4484G> C(p.Arg1495Thr) was shown to result in aberrant mRNA transcripts predicted to encode truncated proteins. The BRCA1:c.122A>G(p.His41Arg) RING-domain variant was found from multifactorial likelihood analysis to have a...
To investigate variants of uncertain significance (VUS) in BRCA1 and BRCA2, we assessed the multifactorial posterior probability of VUS in BRCA1 and BRCA2 and compared these analyses with interpretations according to the recently released American Colleg
To improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function. Functional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high sensitivity and specificity f
One can imagine that these and other viruses that access the nucleus during replication could feasibly interact with BRCA1 or BRCA2, driving the selection of variants that ultimately lead to decreased susceptibility to infection. However, it is possible that variant alleles selected for this purpose...