Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes
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DOI: 10.1002/humu.23877
Abstract: DICER1 syndrome is a pleiotropic tumor predisposition syndrome characterized by a distinctive constellation of neoplastic and dysplastic lesions, which are generally rare and affect children and young adults. Germline pathogenic variants in the DICER1 gene… read more here.
Keywords: associated phenotypes; dicer1; ten years; provenance distribution ... See more keywords
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study
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DOI: 10.1007/s00467-018-4040-1
Abstract: BackgroundThe DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural… read more here.
Keywords: dicer1; dicer1 carriers; family controls; dicer1 syndrome ... See more keywords
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors
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DOI: 10.1007/s12105-022-01417-w
Abstract: DICER1 syndrome is an autosomal dominant tumor predisposition syndrome caused by germline DICER1 mutations. In the thyroid, DICER1 syndrome is associated with early-onset multinodular goiter and thyroid carcinomas. Subsequent studies have shown that somatic DICER1… read more here.
Keywords: pathology; thyroid carcinomas; dicer1 mutations; dicer1 ... See more keywords
Endometrial adenosarcoma in the setting of a germline DICER1 mutation: A case report☆
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DOI: 10.1016/j.gore.2017.04.004
Abstract: Highlights • DICER1 mutations play a significant role in gynecologic malignancy.• DICER1 may be involved in the sarcomagenesis of endometrial adenosarcoma.• The knowledge of a genetic mutation can help clarify a patient's medical history. read more here.
Keywords: germline dicer1; adenosarcoma setting; dicer1; endometrial adenosarcoma ... See more keywords
NEUROECTODERMAL ELEMENTS ARE PART OF THE MORPHOLOGICAL SPECTRUM OF DICER1-ASSOCIATED NEOPLASMS.
Sign Up to like & getrecommendations! Published in 2022 at "Human pathology"
DOI: 10.1016/j.humpath.2022.02.018
Abstract: Many sarcomas with DICER1 pathogenic variants (PVs) exhibit a characteristic morphology, including a subepithelial layer of malignant mesenchymal cells, areas of rhabdomyoblastic differentiation and cartilaginous and/ or osseous elements. We report 5 DICER1-associated neoplasms (1… read more here.
Keywords: dicer1 associated; morphological spectrum; dicer1; part morphological ... See more keywords
Expanding the spectrum of dicer1-associated sarcomas
Sign Up to like & getrecommendations! Published in 2019 at "Modern Pathology"
DOI: 10.1038/s41379-019-0366-x
Abstract: DICER1 syndrome is a hereditary cancer predisposition syndrome caused by deleterious germline DICER1 mutations. Characteristic “hotspot” somatic mutations of DICER1 have been identified in DICER1-associated tumors. With the exception of genitourinary embryonal rhabdomyosarcoma and anaplastic… read more here.
Keywords: sarcoma; dicer1 associated; dicer1; associated sarcomas ... See more keywords
Amplification of hsa-miR-191/425 locus promotes breast cancer proliferation and metastasis by targeting DICER1
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DOI: 10.1093/carcin/bgy102
Abstract: The dysregulation of micro RNAs (miRNAs) is a crucial characteristic of human cancers. Herein, we observed frequent amplification of the MIR191/425 locus in breast cancer, which is correlated with poor survival outcome. We demonstrated that… read more here.
Keywords: dicer1; mir 191; breast cancer; 191 425 ... See more keywords
PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing
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DOI: 10.1093/nar/gkac499
Abstract: Abstract DICER1 syndrome is a cancer pre-disposition disorder caused by mutations that disrupt the function of DICER1 in miRNA processing. Studying the molecular, cellular and oncogenic effects of these mutations can reveal novel mechanisms that… read more here.
Keywords: dicer1; mirna processing; control; rna ... See more keywords
The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.
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DOI: 10.1097/pgp.0000000000000718
Abstract: Embryonal rhabdomyosarcoma of the uterine cervix is a rare neoplasm which is almost invariably associated with pathogenic somatic or germline DICER1 mutations; patients with germline mutations have DICER1 syndrome. We report 2 subtle cervical embryonal… read more here.
Keywords: uterine cervix; dicer1; dicer1 syndrome; embryonal rhabdomyosarcoma ... See more keywords
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107887
Abstract: In 2016, we reported a child with bilateral lung cysts and left lung type II pleuropulmonary blastoma (PPB), classic phenotypes of DICER1 syndrome; we identified a DICER1 hotspot mutation c.5425G>A, p.Gly1809Arg in both a lung… read more here.
Keywords: dicer1; mosaicism; rnase iiib; foregut endoderm ... See more keywords
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies
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DOI: 10.1158/1078-0432.ccr-17-3089
Abstract: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord–stromal tumors, particularly Sertoli–Leydig cell tumor,… read more here.
Keywords: dicer1 associated; risk; dicer1; associated conditions ... See more keywords