|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200].
|
24839956 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.
|
31417090 |
2019 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DICER1 germline mutations are known to predispose individuals to the development of malignant tumors, mainly pleuropulmonary blastoma and ovarian Sertoli-Leydig cell tumor.
|
28012864 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Finally, DICER1 mutations can manifest with renal cystic lesions (typically, cystic nephromas) in patients predisposed to other malignancies in the chest, ovaries, and thyroid.
|
28493804 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks ("cumulative incidence") of neoplasms (benign and malignant) and standardized incidence ratios for malignant tumors in individuals with DICER1 pathogenic variation.
|
30715996 |
2019 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms.
|
28474256 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome.
|
27442759 |
2016 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function.
|
19219043 |
2009 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome.
|
24617712 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, we investigated the prevalence of pathogenic DICER1 germline variation in The Cancer Genome Atlas (TCGA; 32 adult cancer types; 9,173 exomes) and the Therapeutically Applicable Research to Generate Effective Treatment (TARGET; two pediatric cancer types; 175 exomes) cohorts.
|
30672147 |
2019 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The metachronous occurrence of two unrelated tumor entities (eRMS and CBME) in a very young child within a short timeframe should have raised the suspicion of an underlying cancer susceptibility syndrome and should be prompt tested for DICER1.
|
27896549 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently, a number of mutations in dicer gene have been identified in diverse types of cancer, implicating Dicer in oncogenic cooperation.
|
25911188 |
2015 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors.
|
29469200 |
2018 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DICER1 truncating mutations were identified in 4/781 cancer cell lines; all were in microsatellite unstable lines and therefore unlikely to be driver mutations.
|
21266384 |
2011 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Most recently, both germline and somatic mutations in DICER1 have been identified in diverse types of cancer.
|
25176334 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
PBs mainly arise sporadically, but may also occur in the context of cancer predisposition syndromes including DICER1 and RB1 germline mutation.
|
31768671 |
2020 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome.
|
26983701 |
2016 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Overall, the results indicated that the C allele of DICER rs1057035 polymorphism was significantly associated with decreased cancer risk in allelic comparison, heterozygote and dominant genetic models (C vs T: OR=0.88, 95%CI 0.81-0.95, p=0.002; TC vs TT: OR=0.85, 95%CI 0.77-0.93, p=0.001; CC/TC vs TT: OR=0.86, 95%CI 0.78-0.94, p=0.001).
|
25640338 |
2015 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1.
|
28960912 |
2018 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DICER1 is a driver of pediatric thyroid nodules, and DICER1-mutated PTC may represent a distinct class of low-risk malignancies.
|
29474644 |
2018 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC.
|
28748527 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage.
|
23132766 |
2013 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
DICER1 germline mutation carriers have an increased predisposition to cancer, such as pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT), and a high prevalence of multinodular goiter (MNG).
|
26555935 |
2016 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our results reveal that DICER1 hotspot mutations are implicated in common malignancies and may constitute a unique oncogenic pathway.
|
26033159 |
2015 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
DICER1 expression is decreased during the progression of gastric cancer, especially in progressive gastric cancers, which indicating DICER1 may play an important role in the development of cancer and the epigenetical regulation involved.
|
18167183 |
2007 |