Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencingFGFR1Kallmann syndromewhole-exome sequencingKallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns...
immunohistochemistry method. Pearson’s chi-square test was utilized to analyze the association between FGFR1 expression and disease characteristics. COX regression and Kaplan-Meier analyses were performed to evaluate the effect of FGFR...
Of particular interest, they found a twofold increase in FGFR1 amplification in IBC versus pure DCIS, and significantly reduced disease-free survival in amplified versus unamplified IBC - leading the authors to conclude that FGFR1 plays an important role in the development and progression of IBC. ...
To overcome this deadly disease, a lot of efforts have been made in the recent decades to explore the molecular mechanisms in lung cancer occurrence and progression. Several crucial regulatory genes have been identified by comprehensive genome analysis tools, including the TP53 and RB1 in SCLC [5...
Six targeted and immunotherapeutic agents have been approved for patients with advanced urothelial bladder cancer. They all have demonstrated activity in patients for whom disease has progressed during or after platinum-based therapy. Pembrolizumab, with and without enfortumab, has demonstrated first-line...
This may be because the p.V429E mutation causes only partial loss of function, such that two mutant alleles are needed to manifest the disease phenotype. In the other six families, FGFR1-associated CHH with SHFM was inherited as an autosomal dominant trait with incomplete penetrance. For ...
One patient was known to have Li–Fraumeni syndrome and had a germline TP53c.202G4T (p.68*) mutation (MPT9). No germline mutations were known or detected in the other nine patients. Three patients died of disease, which was preceded in all cases by at least one distant metastasis (...
Thus, data from our panel of patient-derived NSCLC xenograft models confirms the utility of these models in furthering our understanding of this disease and aiding the development of personalized therapies for NSCLC patients. 展开 关键词: NSCLC Patient-derived NSCLC xenograft EGFR/KRAS mutations ...
3.2.1. FGFR1 mutation For family PK-ST-SJB-05, approximately 5820 candidate variants were identified in each trio. A single candidate gene with dominant mode of inheritance was identified in family and confirmed by Sanger sequencing. DNA sequence analysis identified a novel heterozygous mutation (C...
Notably, only FGFR1 overexpression was significantly associated with better overall (P = 0.0158) and disease-free survival (P = 0.006) (Additional file 1: Figure S4B). FGFR1 immunolabeling in the validation cohort Representative IHC images of FGFR1-positive and -negative cases from the ...