GENETIC mutationKREBS cycleCANCER patientsBREASTUTERINE arteryFH-deficient Renal Cell Carcinoma (FH-deficient RCC) are inherited tumors caused by mutations in the fumarate hydratase (FH) gene, which plays a role in the tricarboxylic acid cycle. These mutations often result in ...
研究证实FH在遗传性平滑肌瘤病及肾细胞癌(Hereditary Leiomyomatosis and Renal Cell Cancer,HLRCC)综合征中可能是一种抑癌基因。 HLRCC综合征,也称为Reed综合征,是一种罕见的常染色体显性遗传病,FH基因缺陷易发生肿瘤三联征:皮肤多发性平滑肌瘤(73-100%)、子宫平滑肌瘤...
关键词 : 延胡索酸水化酶基 因; 低 氧诱 导因子 2Ⅸ; 脯氨酸 羟化酶 ;核 转录 因子 Nrt2; 血管 内皮 生长 因子 Progress of Furmarate Hydratase Gene Mutation洳Hereditary Leiomyomatosis and Renal Cell Cancer zHoU T/irg—ting XING ifn.chun.t The Fint Clinical Medical College of Fujian Medical ...
This has proved to be the paradigm of the RB1 gene and for several other genes, such as APC, NF2 and TP53. FH does not appear to conform to this model and is similar to a number of other cancer susceptibility genes in this respect. For example, truncating muta- tions in BRCA1 and ...
FULL PAPER British Journal of Cancer (2016) 114, 1405–1411 | doi: 10.1038/bjc.2016.130 Keywords: FH; MED12; HLRCC; uterine leiomyoma; 2SC; succination MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas Kati Ka¨ mpja¨ rvi1,2, Netta Ma¨ kinen1,2, Miika ...
Renal cell cancer (RCC) associated mutations occur throughout the gene with the exception of exons 1 and 6, though there are perhaps fewer RCC-associated mutations in exon 7 than one might expect (Fig 4). The Arg233His (R190H) mutation is the most commonly described FH variant, so it ...
Three patients with concurrent FH and NF2 mutations died of the disease.Conclusions: NF2 mutations have been identified in a variety of morphologic types of Renal cell cancer. However, we were surprised by the number of cases with NF2 mutation in tumors that also harbor the FH (HLRCC) ...
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Analysis of clinical and dosimetric factors associated with treatment-related pneumonitis (TRP) in patients with non-small-cell lung cancer (NSCLC) treated... 2006; 66 :1399–1407. doi: 10.1016/j.ijrobp.2006.07.1337. [ Cross Ref ]Shi AH, Zhu GY, Wu H, Yu R, Li FH, Xu B. Analysis...
Fumarate hydratase (FH) deficient renal cell carcinoma (RCC) is a type of tumor with definite metabolic disorder, but the mechanism of metabolic remodeling is still unclear. LncRNA was reported to closely correlate with cancer metabolism, however the bio