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SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.
Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R. Mardinian K, et al. Mol Cancer Ther. 2021 Dec;20(12):2341-2351. doi: 10.1158/1535-7163.MCT-21-0433. Epub 2021 Oct 12. Mol Cancer Ther. 2021. PMID: 34642211 Free PMC article. Review.
Germline variants in the SMARCA4 gene lead to various hereditary conditions: rhabdoid tumor predisposition syndrome-2 (RTPS2), characterized by loss-of-function alterations and aggressive rhabdoid tumors presenting in infants and young children; …
Germline variants in the SMARCA4 gene lead to various hereditary conditions: rhabdoid tumor predisposition syndrome
Rare Hereditary Gynecological Cancer Syndromes.
Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K. Watanabe T, et al. Int J Mol Sci. 2022 Jan 29;23(3):1563. doi: 10.3390/ijms23031563. Int J Mol Sci. 2022. PMID: 35163487 Free PMC article. Review.
In the present review, we provide an overview of the clinical features, and discuss the molecular genetics, of four rare hereditary gynecological cancer syndromes; Cowden syndrome, Peutz-Jeghers syndrome, DICER1 syndrome and rhabdoid tumor predisposition s
In the present review, we provide an overview of the clinical features, and discuss the molecular genetics, of four rare hereditary gynecolo …
[The pathology of hereditary ovarian tumors].
Pesce F, Devouassoux-Shisheboran M. Pesce F, et al. Ann Pathol. 2020 Apr;40(2):85-94. doi: 10.1016/j.annpat.2020.02.015. Epub 2020 Mar 13. Ann Pathol. 2020. PMID: 32178889 Review. French.
Small cell carcinoma of hypercalcemic type may be associated with a rhabdoid tumor predisposition syndrome 2. Finally, rare germ cell tumors have been reported related to ataxia telangiectasia. ...
Small cell carcinoma of hypercalcemic type may be associated with a rhabdoid tumor predisposition syndrome 2