Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Tumor predisposition syndrome"'
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1803-1817 (2024)
Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 21282485
Externí odkaz:
https://doaj.org/article/073f1f9af19443639be63f72fae4cbe5
Autor:
Stefania Martino, Simona De Summa, Brunella Pilato, Maria Digennaro, Letizia Laera, Stefania Tommasi, Margherita Patruno
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
The gene protection of telomere 1 (POT1) is involved in telomere maintenance and stability and plays a crucial role in the preservation of genomic stability. POT1 is considered a high-penetrance melanoma susceptibility gene; however, the number of ca
Externí odkaz:
https://doaj.org/article/79fdfc99c2374daf9642fab4a291a3b4
Autor:
M. Alonso Grandes, R. Roldán Testillano, A.M. Márquez Negro, C. Cernuda Pereira, M. Dorado Valentín, R. Khedaoui, A. Páez Borda
Publikováno v:
Urology Case Reports, Vol 54, Iss , Pp 102700- (2024)
BCRA-associated protein-1 (BAP-1) mutation has been associated with the development of a familiar syndrome that predisposes to tumors with a higher incidence than in general population, including melanoma and renal carcinoma.We report a 47-year-old w
Externí odkaz:
https://doaj.org/article/d6118ae62f014ae1b1fc0c9b68b0382a
Autor:
John A. Vu, Whitney S. Thompson, Denise B. Klinkner, Asma Chattha, Myra Wick, Ellen J. Case, Christopher Collura, Amanika Kumar
Publikováno v:
Gynecologic Oncology Reports, Vol 49, Iss , Pp 101261- (2023)
Loss of heterozygosity in the SMARCA4 gene is a hallmark feature of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), an aggressive ovarian cancer occurring in young adults and adolescents with an average age of 23 years and a median su
Externí odkaz:
https://doaj.org/article/89d3e62dadfb4c018b8f32a0a14d8356
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 873-878 (2022)
Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle, D
Externí odkaz:
https://doaj.org/article/6d40121f69ac461a93537faf8ad47e41
Publikováno v:
Brain Sciences, Vol 13, Iss 7, p 1040 (2023)
DICER1 syndrome is a tumor predisposition syndrome caused by abnormal micro-RNA processing which leads to a variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports the case of a primar
Externí odkaz:
https://doaj.org/article/a3d9706250ca4e69b5bfd3503467ce55
Autor:
Tomoyasu Higashimoto, Christy Haakonsen Smith, Mark R. Hopkins, John Gross, Deyin Xing, Jae W. Lee, Traevia Morris, Joann Bodurtha
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background Ovarian sex cord‐stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stroma
Externí odkaz:
https://doaj.org/article/3a148da568804f30999342c133c5df6b
Akademický článek
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Autor:
Miguel Berger-Saunderson, Emilio J. Cordova, Alfonso Pérez-Bañuelos, Vanesa Peralta-Velázquez, Atzin A Angeles-Romero, Augusto Sanchez, Lourdes Vega-Vega, Gabriela Escamilla-Asiain, Carmen Esmer
Publikováno v:
Current Problems in Cancer: Case Reports, Vol 4, Iss , Pp 100122- (2021)
Atypical teratoid rhabdoid tumors comprise 2%–3% of central nervous system tumors in children; over 90% occur before 3 years of age. It is classified as a grade IV tumor according to the World Health Organization. Herein we present the diagnostic c
Externí odkaz:
https://doaj.org/article/1be56a404882410b922a243fe9a2bf15
Autor:
Rahul N. Prasad, Ulysses G. Gardner, Alexander Yaney, Daniel M. Prevedello, Daniel C. Koboldt, Diana L. Thomas, Elaine R. Mardis, Joshua D. Palmer
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Meningioma is the most common primary brain tumor, and recurrence risk increases with increasing WHO Grade from I to III. Rhabdoid meningiomas are a subset of WHO Grade III tumors with rhabdoid cells, a high proliferation index, and other malignant f
Externí odkaz:
https://doaj.org/article/c612d1e68edf48f8a31f64ac32a0efa9