MCID: DCR010
MIFTS: 28

Dicer1 Tumor Predisposition

Categories: Cancer diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Dicer1 Tumor Predisposition

MalaCards integrated aliases for Dicer1 Tumor Predisposition:

Name: Dicer1 Tumor Predisposition 24
Dicer1 Syndrome 24 25
Dicer1 Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome 24
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 25
Pleuropulmonary Blastoma Familial Tumor and Dysplasia Syndrome 25
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome 25

Characteristics:

GeneReviews:

24
Penetrance The penetrance of heterozygous germline dicer1 pathogenic variants is reduced and age dependent. in a longitudinal natural history study of 145 individuals with a germline dicer1 pathogenic variant and 135 family controls, the cumulative incidence of mng or thyroidectomy by age 40 years was 75% in women and 17% in men versus 8% and 0% in control women and men [khan et al 2017b]....

Classifications:



Summaries for Dicer1 Tumor Predisposition

Genetics Home Reference : 25 DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. DICER1 DICER1 People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). DICER1 Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. DICER1 People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). DICER1 DICER1

MalaCards based summary : Dicer1 Tumor Predisposition, also known as dicer1 syndrome, is related to dicer1-related pleuropulmonary blastoma cancer predisposition syndrome and tumor predisposition syndrome. An important gene associated with Dicer1 Tumor Predisposition is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include thyroid, lung and kidney.

GeneReviews: NBK196157

Related Diseases for Dicer1 Tumor Predisposition

Diseases related to Dicer1 Tumor Predisposition via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.3
2 tumor predisposition syndrome 10.2
3 differentiated thyroid carcinoma 10.1
4 rare tumor 10.1
5 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.1
6 rhabdomyosarcoma, embryonal, 2 10.1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
8 pleuropulmonary blastoma 10.1
9 multinodular goiter 10.1
10 nephroma 10.1
11 goiter 10.1
12 pineoblastoma 10.1
13 leydig cell tumor 10.1
14 sertoli-leydig cell tumor 10.1
15 embryonal rhabdomyosarcoma 10.1
16 rhabdomyosarcoma 10.1
17 embryoma 10.1
18 medulloepithelioma 10.1
19 gynandroblastoma 10.1
20 thyroid carcinoma 10.1
21 sarcoma 10.0
22 spindle cell sarcoma 10.0
23 neuroblastoma 10.0
24 overgrowth syndrome 10.0
25 basal cell nevus syndrome 9.9
26 pilomatrixoma 9.9
27 medulloblastoma 9.9
28 thyroid cancer, nonmedullary, 1 9.9
29 arachnoid cysts, intracranial 9.9
30 lymphoma, hodgkin, classic 9.9
31 papilloma of choroid plexus 9.9
32 retinitis pigmentosa 9.9
33 rhabdomyosarcoma, embryonal, 1 9.9
34 familial adenomatous polyposis 9.9
35 lymphoma 9.9
36 ovarian sex-cord stromal tumor 9.9
37 neuroretinitis 9.9
38 nephrocalcinosis 9.9
39 squamous cell papilloma 9.9
40 basal cell carcinoma 9.9
41 papilloma 9.9
42 fibrosarcoma 9.9
43 atypical choroid plexus papilloma 9.9
44 retinitis 9.9
45 kidney sarcoma 9.9
46 nephrolithiasis 9.9
47 cowden syndrome 9.9
48 47,xyy 9.9
49 soft tissue sarcoma 9.9
50 intraocular medulloepithelioma 9.9

Graphical network of the top 20 diseases related to Dicer1 Tumor Predisposition:



Diseases related to Dicer1 Tumor Predisposition

Symptoms & Phenotypes for Dicer1 Tumor Predisposition

Drugs & Therapeutics for Dicer1 Tumor Predisposition

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
2 Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors Recruiting NCT03739827

Search NIH Clinical Center for Dicer1 Tumor Predisposition

Genetic Tests for Dicer1 Tumor Predisposition

Anatomical Context for Dicer1 Tumor Predisposition

MalaCards organs/tissues related to Dicer1 Tumor Predisposition:

40
Thyroid, Lung, Kidney, Liver, Ovary, Bone, Brain

Publications for Dicer1 Tumor Predisposition

Articles related to Dicer1 Tumor Predisposition:

(show top 50) (show all 149)
# Title Authors PMID Year
1
An update on the central nervous system manifestations of DICER1 syndrome. 61 24
30953130 2020
2
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. 61 24
31937902 2020
3
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61 24
31390509 2019
4
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61 24
31067372 2019
5
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61 24
30715996 2019
6
The prevalence of germline DICER1 pathogenic variation in cancer populations. 61 24
30672147 2019
7
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 61 24
30260442 2019
8
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 61 24
30339877 2019
9
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 61 24
30178239 2018
10
[DICER1 mutated, solid/trabecular thyroid papillary carcinoma in an 11-year-old child]. 61 24
29884466 2018
11
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61 24
29315962 2018
12
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. 61 24
28862265 2018
13
The prevalence of DICER1 pathogenic variation in population databases. 61 24
28748527 2017
14
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 61 24
28323992 2017
15
Macrocephaly associated with the DICER1 syndrome. 61 24
27441995 2017
16
DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association. 24 61
26555935 2016
17
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. 61 24
26475046 2016
18
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 61 24
26925222 2015
19
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 61 24
24839956 2014
20
Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma. 24 61
24617712 2014
21
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 61 24
21266384 2011
22
DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. 24
32291395 2020
23
Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling. 24
31232238 2020
24
Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation. 24
31296931 2019
25
Dental abnormalities in individuals with pathogenic germline variation in DICER1. 24
31313479 2019
26
Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy. 24
30989777 2019
27
Intraocular medulloepithelioma - A review of clinical features, DICER 1 mutation, and management. 24
31124483 2019
28
Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma. 24
30677214 2019
29
DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation. 24
30266945 2019
30
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors. 24
30446821 2019
31
Plaque Radiotherapy for Medulloepithelioma in 6 Cases From a Single Center. 24
30375203 2019
32
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. 24
29881993 2018
33
DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma. 24
29474644 2018
34
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. 24
29343557 2018
35
A rare malignant thyroid carcinosarcoma with aggressive behavior and DICER1 gene mutation: a case report with literature review. 24
30083234 2018
36
DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. 24
29037807 2017
37
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
38
Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start data. 24
28011926 2017
39
Mixed Epithelial and Stromal Tumor of the Kidney: Mutation Analysis of the DICER 1 Gene in 29 Cases. 24
26509905 2017
40
Timing, rates and spectra of human germline mutation. 24
26656846 2016
41
Nasal Chondromesenchymal Hamartoma (NCMH): a systematic review of the literature with a new case report. 24
26138824 2015
42
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer. 24
25900731 2015
43
Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. 24
25209242 2015
44
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. 24
24909177 2014
45
DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. 24
24481001 2014
46
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. 24
24676357 2014
47
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. 24
24065110 2014
48
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. 24
23868280 2013
49
Ciliary body medulloepithelioma: analysis of 41 cases. 24
23796765 2013
50
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. 24
23613510 2013

Variations for Dicer1 Tumor Predisposition

Cosmic variations for Dicer1 Tumor Predisposition:

9 (show top 50) (show all 492)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87996646 TP53 lung,NS,carcinoma,blastoma c.454C>A p.P152T 17:7675158-7675158 3
2 COSM87898723 TP53 lung,NS,carcinoma,blastoma c.817C>T p.R273C 17:7673803-7673803 3
3 COSM87922049 TP53 lung,NS,carcinoma,blastoma c.713G>T p.C238F 17:7674250-7674250 3
4 COSM87906185 TP53 lung,NS,carcinoma,blastoma c.517G>T p.V173L 17:7675095-7675095 3
5 COSM87901968 TP53 lung,NS,carcinoma,blastoma c.535C>G p.H179D 17:7675077-7675077 3
6 COSM87898714 TP53 lung,NS,carcinoma,blastoma c.844C>T p.R282W 17:7673776-7673776 3
7 COSM87976440 TP53 lung,NS,carcinoma,blastoma c.452C>T p.P151L 17:7675160-7675160 3
8 COSM89655625 SMARCA4 lung,NS,carcinoma,blastoma c.2441C>G p.T814R 19:11018959-11018959 3
9 COSM87804005 KRAS lung,NS,carcinoma,blastoma c.35G>A p.G12D 12:25245350-25245350 3
10 COSM128909007 DICER1 lung,NS,carcinoma,blastoma c.5438A>T p.E1813V 14:95091292-95091292 3
11 COSM128917651 DICER1 lung,NS,carcinoma,blastoma c.1232C>A p.S411* 14:95124340-95124340 3
12 COSM128908198 DICER1 lung,NS,carcinoma,blastoma c.5425G>A p.G1809R 14:95091305-95091305 3
13 COSM128908575 DICER1 lung,NS,carcinoma,blastoma c.5125G>A p.D1709N 14:95094127-95094127 3
14 COSM150913532 CTNNB1 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
15 COSM150913731 CTNNB1 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
16 COSM150913673 CTNNB1 lung,NS,carcinoma,blastoma c.94G>T p.D32Y 3:41224606-41224606 3
17 COSM150913916 CTNNB1 lung,NS,carcinoma,blastoma c.86C>T p.S29F 3:41224598-41224598 3
18 COSM150913524 CTNNB1 lung,NS,carcinoma,blastoma c.98C>G p.S33C 3:41224610-41224610 3
19 COSM150913739 CTNNB1 lung,NS,carcinoma,blastoma c.98C>T p.S33F 3:41224610-41224610 3
20 COSM150913552 CTNNB1 lung,NS,carcinoma,blastoma c.100G>A p.G34R 3:41224612-41224612 3
21 COSM150917824 CTNNB1 lung,NS,carcinoma,blastoma c.1049G>A p.C350Y 3:41227320-41227320 3
22 COSM114542462 BAP1 lung,NS,carcinoma,blastoma c.1938T>G p.Y646* 3:52402824-52402824 3
23 COSM150659429 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
24 COSM149957345 lung,NS,carcinoma,blastoma c.89C>T p.S30F 3:41224622-41224622 3
25 COSM150526091 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
26 COSM146253635 lung,NS,carcinoma,blastoma c.1049G>A p.C350Y 3:41227320-41227320 3
27 COSM150274793 lung,NS,carcinoma,blastoma c.98C>G p.S33C 3:41224610-41224610 3
28 COSM149384249 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
29 COSM150961273 lung,NS,carcinoma,blastoma c.89C>G p.S30C 3:41224622-41224622 3
30 COSM102378595 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
31 COSM138934750 lung,NS,carcinoma,blastoma c.2441C>G p.T814R 19:11018959-11018959 3
32 COSM151345146 lung,NS,carcinoma,blastoma c.89C>G p.S30C 3:41224622-41224622 3
33 COSM149290272 lung,NS,carcinoma,blastoma c.89C>T p.S30F 3:41224622-41224622 3
34 COSM149480277 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
35 COSM150088145 lung,NS,carcinoma,blastoma c.89C>T p.S30F 3:41224622-41224622 3
36 COSM105888235 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
37 COSM144141681 lung,NS,carcinoma,blastoma c.-26C>T p.? 17:7675160-7675160 3
38 COSM150814301 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
39 COSM143944155 lung,NS,carcinoma,blastoma c.367C>T p.R123W 17:7673776-7673776 3
40 COSM149958529 lung,NS,carcinoma,blastoma c.65C>T p.S22F 3:41224598-41224598 3
41 COSM150964849 lung,NS,carcinoma,blastoma c.1028G>A p.C343Y 3:41227320-41227320 3
42 COSM112336073 lung,NS,carcinoma,blastoma c.454C>A p.P152T 17:7675158-7675158 3
43 COSM110179068 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
44 COSM146867421 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
45 COSM151247048 lung,NS,carcinoma,blastoma c.2441C>G p.T814R 19:11018959-11018959 3
46 COSM109691676 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
47 COSM151826982 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
48 COSM151595284 lung,NS,carcinoma,blastoma c.1049G>A p.C350Y 3:41227320-41227320 3
49 COSM149290820 lung,NS,carcinoma,blastoma c.89C>G p.S30C 3:41224622-41224622 3
50 COSM150814521 lung,NS,carcinoma,blastoma c.86C>T p.S29F 3:41224598-41224598 3

Expression for Dicer1 Tumor Predisposition

Search GEO for disease gene expression data for Dicer1 Tumor Predisposition.

Pathways for Dicer1 Tumor Predisposition

GO Terms for Dicer1 Tumor Predisposition

Sources for Dicer1 Tumor Predisposition

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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