Second-hit APC mutation in a familial adamantinomatous craniopharyngioma

Gorelyshev, Alexander; Мазеркина, Н А; Медведева, О. А.; Vasilyev, Evgeny; Petrov, V. M.; Ryzhova, Marina; Gorelyshev, Sergey; Tiulpakov, Anatoly

doi:10.1093/neuonc/noaa060

Cited by 9 publications

(4 citation statements)

References 5 publications

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“…Gorelyshev et al described 2 cases of sellar craniopharyngiomas in a pair of half-siblings without a known diagnosis of FAP. 7 WES revealed a previously undescribed germline APC variant in both patients, as well as shared somatic APC mutations affecting a known hotspot region in their tumors. Biallelic loss of APC could only be confirmed in 1 patient utilizing linked heterozygous SNP markers to differentiate between alleles, but the same approach could not be used for the second patient who was homozygous for the same markers.…”

Section: Discussionmentioning

confidence: 94%

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations

Hong

Omuro

et al. 2021

Neuro-Oncology Advances

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Section: Discussionmentioning

confidence: 94%

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations

Hong

Omuro

et al. 2021

Neuro-Oncology Advances

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“…The protein encoded by the WT APC gene promotes the degradation of β-catenin by binding with the β-catenin protein. Deletion or mutation of the APC gene leads to the accumulation of β-catenin in the nucleus, which activates the canonical Wnt signaling pathway (5). APC gene mutations were found in familial adenomatous polyposis (FAP) and 70%-80% of sporadic patients with CRC have APC gene inactivation (6).…”

Section: Introductionmentioning

confidence: 99%

A specific upregulated long noncoding RNA in colorectal cancer promotes cancer progression

Li¹,

Ji²,

Chen³

et al. 2022

JCI Insight

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“…The protein encoded by wild-type APC gene promotes the degradation of β-Catenin by binding with β-Catenin protein. Deletion or mutation of APC gene leads to the accumulation of β-Catenin in the nucleus, which activates canonical Wnt signaling pathway [5] . APC gene mutations were found in familial adenomatous polyposis (FAP) and 70-80% of sporadic CRC patients have APC gene inactivation [6] .…”

Section: Introductionmentioning

confidence: 99%

“…which activates canonical Wnt signaling pathway [5] . APC gene mutations were found in familial adenomatous polyposis (FAP) and 70-80% of sporadic CRC patients have APC gene inactivation [6] .…”

mentioning

confidence: 99%

A specific Upregulated lncRNA in Colorectal Cancer Promotes Cancer Progression by Modulating miR-185-5p/CCND2 Axis

Chen

et al. 2021

Preprint

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BackgroundAdenomatous polyposis coli (APC) gene mutations were found in most colorectal cancer patients and functioned as an important inducer of tumorigenesis. Long non-coding RNA (lncRNA) plays a crucial role in the pathogenesis of various diseases, including colorectal cancer (CRC). Here we investigated the role of SURC which is specific upregulated in CRC progression. MethodsBased on the previous microarray results, weighted correlation network analysis (WGCNA) and lncRNA-mRNA co-expression network analysis were used to identify a lncRNA (SURC) and found it was specific up-regulated in CRC patients by qPCR and FISH staining. Chromatin immunoprecipitation (ChIP) assay was used to demonstrate the regulatory effect and mechanism of APC mutation on SURC expression. The effects of SURC on proliferation and cell cycle were determined by in vitro and in vivo experiments. Chromatin Isolation by RNA Purification (CHIRP) and luciferase reporter assay were carried out to illustrate the interaction between SURC, miR-185-5p and CCND2.ResultsWe found that SURC was specific up-regulated in CRC, but not in other solid tumor, when compared with normal adjacent tissues. High expression of SURC correlates with poorer disease-free survival and overall survival of CRC patients. Mutated APC protein resulted in stabilization of β-catenin in CRC, which promotes the transcription of SURC via binding to its promoter. Knockdown of SURC impaired CRC cell proliferation, colony formation and CRC tumor growth. Mechanistically, after transcription, SURC was transferred to cytoplasm and inhibits miR-185-5p expression via binding to miR-185-5p and inhibiting the synthesis of miR-185-5p from pri-miR-185-5p, which results in CCND2 expression.ConclusionCollectively, these results indicated that SURC promoted CRC tumor growth via interacting with miR-185-5p and regulating the activity of miR-185-5p/CCND2 axis which would be a novel diagnosis and prognosis prediction target for CRC.

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Second-hit APC mutation in a familial adamantinomatous craniopharyngioma

Cited by 9 publications

References 5 publications

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations

A specific upregulated long noncoding RNA in colorectal cancer promotes cancer progression

A specific Upregulated lncRNA in Colorectal Cancer Promotes Cancer Progression by Modulating miR-185-5p/CCND2 Axis

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