|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our results indicate that SNF5 plays an important role of promoting oncogenesis in EC.
|
30683081 |
2019 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The mechanisms by which SMARCB1 deletion results in tumorigenesis remain unclear.
|
30230537 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our data indicate that mutations affecting SMARCB1 play a role in the development or progression of a small subset of spinal schwannomas and that biallelic inactivation of SMARCB1 may cooperate with deficiency of NF2 function in schwannoma tumorigenesis according to the "four-hit/three events" mechanism of tumorigenesis that we demonstrated in schwannomatosis-associated schwannomas.
|
29230670 |
2018 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Smarcb1 loss in early neural crest was necessary to initiate tumorigenesis in the cranial nerves and meninges with typical histological features and molecular profiles of human rhabdoid tumors.
|
28824165 |
2017 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Finally, this case further supports a rhabdoid tumorigenesis model in which heterozygous loss of SMARCB1 predisposes to initial tumor formation with intact SMARCB1 expression, with subsequent inactivation of the other SMARCB1 allele, which results in transformation into more malignant lesions.
|
25018128 |
2014 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Tumorigenesis is thought to occur through a four-hit, three-step model, beginning with a germline mutation in SMARCB1 (hit 1), followed by loss of a portion of chromosome 22 that contains the second SMARCB1 allele and one NF2 allele (hits 2 and 3), followed by mutation of the remaining wild-type NF2 allele (hit 4).
|
23401320 |
2013 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The development of genetically engineered mice with ablation of NF1, NF2, SMARCB1/INI1 or PRKAR1A has confirmed the key role these genes play in peripheral nerve sheath tumorigenesis.
|
22160322 |
2012 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.
|
22814326 |
2012 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The aim of this research was to investigate the effect of INI1 in the carcinogenesis and progression of gastric cancer.
|
22490415 |
2012 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Further, using both human cell lines and mouse models, we show that cancer formation in the absence of SNF5 does not result from SWI/SNF inactivation but rather that oncogenesis is dependent on continued presence of BRG1.
|
19789351 |
2009 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.
|
18422762 |
2008 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.
|
18072270 |
2008 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Functional interaction of the retinoblastoma and Ini1/Snf5 tumor suppressors in cell growth and pituitary tumorigenesis.
|
16912184 |
2006 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The hSNF5/INI1 gene may lead to tumorigenesis in this case.
|
15168054 |
2005 |
|
Carcinogenesis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
The human rhabdoid tumorigenesis orchestrated by INI1 inactivation is associated with specific rearrangements of chromosome 22 that correlate with preferential anatomic tumor locations.
|
15721633 |
2005 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mammalian SNF5 is essential for normal cell viability, and loss or mutation of the human SNF gene is the molecular basis for familial malignant rhabdoid tumorigenesis.
|
15837618 |
2005 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
To determine how hSNF5 loss might contribute to tumorigenesis, we used a retrovirus to introduce hSNF5 into multiple deficient cell lines.
|
12149641 |
2002 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
These observations demonstrate that INI1 has a masked NES that mediates regulated hCRM1/exportin1-dependent nuclear export and we propose that mutations that cause deregulated nuclear export of the protein could lead to tumorigenesis.
|
11782423 |
2002 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
To investigate whether the hSNF5/INI1 gene located on chromosome 22q is involved in lung carcinogenesis, mutation analysis of the hSNF5/INI1 gene was performed using 50 lung cancer cell lines.
|
10779630 |
2000 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype.
|
10556283 |
1999 |
|
Carcinogenesis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The observation of bi-allelic alterations of hSNF5/INI1 in MRTs suggests that loss-of-function mutations of hSNF5/INI1 contribute to oncogenesis.
|
9671307 |
1998 |