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ekzonunda yer alan follikulin (FLCN) geninde meydana gelen coklu mutasyonlarin neden oldugu saptanmistir.
This genetic, autosomal dominant condition is caused by a mutation of the FLCN gene on chromosome 17.
Informed consent was obtained from the patient for FLCN genetic testing, which was performed on genomic DNA extracted from peripheral leukocytes.
A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
In contrast, 9 genes were detected with significantly lower expression, DKC, HFE, MSR, FLCN, MSH6, CD96, RAD51B, ERCC5, and TP53.
An interesting finding in this study was that the 03 Hybrid tumors with foci of clear cells admixed with papillary and oncocytic pattern also showed the VHL mutations .Single case of hybrid tumor with large areas of chromophobe pattern was negative for mutations as in these cases other genes like BHD or FLCN mutations has been implicated as expressed in studies by Gatalcia et al18 and Adley et al.19Surprisingly 2 cases of papillary RCC in our series showed VHL mutations with two repeated PCR analysis of these two cases.
The mutated gene for BHD encodes the protein folliculin (FLCN) which acts as a tumour suppressor and interacts with mTOR and AMPK signalling pathways .
Samples With Previously Identified Heterozygous Variants That Were Used for Validation of the Combined Disease Panels Gene Transcript Variant Type CDKL5 NM_001037343.1 c.2384A>C, SNV p.Asn795Thr CDKL5 NM_001037343.1 c.380A>G, SNV p.His127Arg FGFR1 NM_023110.2 c.755C>G, SNV p.Pro252Arg FGFR2 NM_000141.4 c.1018T>C, SNV p.Tyr340His FGFR3 NM_001163213.1 c.749C>G, SNV p.Pro250Arg FLCN NM_144997.5 c.1285delC, Indel p.His429ThrfsX39 FLCN NM_144997.5 c.1285dupC, Indel p.His429ProfsX27 GJB2 NM_004004.5 c.35delG, Indel p.Gly12ValfsX2 MAP2K1 NM_002755.3 c.388T>C, SNV p.Tyr130His MYO7A NM_000260.3 c.3719G>A, SNV p.
Previous studies have demonstrated that folliculin (FLCN, NM#144997), located at 17p11.2, was the main causative gene responsible for BHD [6, 7].
The team is co-led by representatives of the Deputy Assistant Secretary of the Navy for Acquisition & Procurement (DASN (AP)) and the NAVSUP FLCN Strategic Sourcing Program Office.
There are several known kidney cancer genes: von Hipppel-Lindau (VHL), met proto-oncogene (hepatocyte growth factor receptor) (MET), folliculin (FLCN), Treacher Collins syndrome 1 (TSC1), Treacher Collins syndrome 2 (TSC2), fumarate hydratase (FH), succinate dehydrogenase (SDH), and protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) (PBRM1) (see Table 2) (Varela et al., 2011).
(85) Genetic predisposition to the development of ChRCC, particularly so-called hybrid oncocytic/chromophobe tumors that show overlapping features of oncocytoma and ChRCC, is seen in patients with Birt-Hogg-Dube syndrome, which is associated with germline folliculin (FLCN) mutations; these patients often develop multiple, bilateral, oncocytic renal neoplasms, including ChRCC, hybrid oncocytic/chromophobe tumors, and oncocytoma, and may also have characteristic skin (ie, fibrofolliculomas, trichodiscomas) and lung (ie, subpleural cystic blebs) findings.
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