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6,287 results

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Page 1
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. Schultz KAP, et al. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17. Clin Cancer Res. 2018. PMID: 29343557 Free PMC article. Review.
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 Serto …
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition t …
DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Nelson AT, Mallinger PHR, Harris AK, Kamihara J, Baldinger S, Chen KS, Pond D, Hatton JN, Dybvik AG, Mitchell SG, Perrino MR, Ben-Ami T, Kachanov D, Su Y, Duan C, Olson DR, Watson D, Field AL, Harney LA, Garrity Carr A, Frazier AL, Schneider DT, Wilson DB, MacFarland SP, Schoettler PJ, Bauer AJ, Dehner LP, Hill DA, Stewart DR, Messinger YH. Schultz KAP, et al. Clin Cancer Res. 2024 Dec 16;30(24):5681-5692. doi: 10.1158/1078-0432.CCR-24-1532. Clin Cancer Res. 2024. PMID: 39400264 Free PMC article.
In 2018, the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry published guidelines for testing- and imaging-based surveillance of individuals with a known or suspected germline DICER1 pathogenic or likely pathogenic (P/LP) variant. ...EXPER …
In 2018, the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry published guidelines for testing- and imaging …
Case 320.
Abramson Z, Schechter A. Abramson Z, et al. Radiology. 2023 Aug;308(2):e222364. doi: 10.1148/radiol.222364. Radiology. 2023. PMID: 37642568
A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline DICER1 mutation was being monitored by physicians at a multidisciplinary genetic predisposition clinic. He demonstrated no evidence of recurrent pleuropu …
A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline DICER1 mutation …
Anaplastic sarcoma of the kidney (DICER1-sarcoma of the kidney): A report from the International Pleuropulmonary Blastoma/DICER1 Registry.
Schoettler PJ, Smith CC, Nishitani M, Harris AK, Nelson AT, Watson DA, Kamihara J, Mullen EA, Hill DA, Messinger YH, Fair DB, Kumar KA, Dehner LP, Ash S, Chen KS, Schultz KAP. Schoettler PJ, et al. Pediatr Blood Cancer. 2024 Aug;71(8):e31090. doi: 10.1002/pbc.31090. Epub 2024 May 28. Pediatr Blood Cancer. 2024. PMID: 38807260 Free PMC article.
Subsequent case reports identified the presence of biallelic DICER1 variants as well as progression from cystic nephroma, a benign DICER1-related neoplasm. ...METHODS: Individuals with known or suspected DICER1-related tumors including ASK were enrolled in th …
Subsequent case reports identified the presence of biallelic DICER1 variants as well as progression from cystic nephroma, a benign …
DICER1 Syndrome.
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J. Hořínová V, et al. Klin Onkol. 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. Klin Onkol. 2019. PMID: 31409088 English.
The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli-Leydig cell tu …
The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients wi …
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.
Tian R, Li Y, Zhong L, Zhang H, Gai Z, Wang D, Song L, Zhang K. Tian R, et al. Hum Mutat. 2025 Apr 1;2025:8884636. doi: 10.1155/humu/8884636. eCollection 2025. Hum Mutat. 2025. PMID: 40226310 Free PMC article.
The most common tumor in clinical practice is pleuropulmonary blastoma. Pleuropulmonary blastoma is a rare pediatric lung tumor that begins during fetal lung development and is part of an inherited tumor syndrome. We found a patient with pleuropulmo …
The most common tumor in clinical practice is pleuropulmonary blastoma. Pleuropulmonary blastoma is a rare pedia …
Targeting mutant dicer tumorigenesis in pleuropulmonary blastoma via inhibition of RNA polymerase I.
Wong MRE, Lim KH, Hee EXY, Chen H, Kuick CH, Aw SJ, Chang KTE, Syed Sulaiman N, Low SY, Hartono S, Tran ANT, Ahamed SH, Lam CMJ, Soh SY, Hannan KM, Hannan RD, Coupland LA, Loh AHP. Wong MRE, et al. Transl Res. 2023 Aug;258:60-71. doi: 10.1016/j.trsl.2023.03.001. Epub 2023 Mar 14. Transl Res. 2023. PMID: 36921796
DICER1 mutations predispose to increased risk for various cancers, particularly pleuropulmonary blastoma (PPB), the commonest lung malignancy of childhood. ...Given recent evidence of Dicer's role as a haploinsufficient tumor suppressor regulati …
DICER1 mutations predispose to increased risk for various cancers, particularly pleuropulmonary blastoma (PPB), the com …
Cervical Pleuropulmonary Blastoma-like Tumor Associated With DICER1 and TP53 Mutations.
Stolnicu S, Bartalis RJ, Mihut E, Szabo B, Da Cruz Paula A, Ye Q, Parkash V, Weigelt B, Soslow RA. Stolnicu S, et al. Int J Gynecol Pathol. 2023 Jul 1;42(4):347-352. doi: 10.1097/PGP.0000000000000927. Epub 2022 Oct 20. Int J Gynecol Pathol. 2023. PMID: 36302256 Free PMC article.
We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma …
We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, …
Transcription-replication conflict resolution by nuclear RNA interference.
Cheng T, Roche B, Abderahmane F, Touat-Todeschini L, Fréon K, Lakhani AA, Bhattacharjee S, Spielmann LG, Jenen E, Choi C, Ren J, Verdel A, Lambert SAE, Martienssen RA. Cheng T, et al. Mol Cell. 2025 Nov 6;85(21):3930-3946.e5. doi: 10.1016/j.molcel.2025.10.003. Epub 2025 Oct 28. Mol Cell. 2025. PMID: 41161313 Free PMC article.
Nuclear RNA interference (RNAi) is required for heterochromatin silencing, but Dicer also promotes genome stability by releasing RNA polymerase at sites of replication stress. ...Analysis of replication intermediates, DNA and RNA 3' ends, and fork processivity genome wide …
Nuclear RNA interference (RNAi) is required for heterochromatin silencing, but Dicer also promotes genome stability by releasing RNA …
Imaging of DICER1 syndrome.
Guillerman RP, Foulkes WD, Priest JR. Guillerman RP, et al. Pediatr Radiol. 2019 Oct;49(11):1488-1505. doi: 10.1007/s00247-019-04429-x. Epub 2019 Oct 16. Pediatr Radiol. 2019. PMID: 31620849 Review.
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ...Rare diseases of early childhood were the first recognized conditions in DICER1 syndrome, while other conditions affect adolescents a …
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ... …
6,287 results