Below are the most recent publications written about "Neoplastic Syndromes, Hereditary" by people in Profiles.
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Ligon JA, Sundby RT, Wedekind MF, Arnaldez FI, Del Rivero J, Wiener L, Srinivasan R, Spencer M, Carbonell A, Lei H, Shern J, Steinberg SM, Figg WD, Peer CJ, Zimmerman S, Moraly J, Xu X, Fox S, Chan K, Barbato MI, Andresson T, Taylor N, Pacak K, Killian JK, Dombi E, Linehan WM, Miettinen M, Piekarz R, Helman LJ, Meltzer P, Widemann B, Glod J. A Phase II Trial of Guadecitabine in Children and Adults with SDH-Deficient GIST, Pheochromocytoma, Paraganglioma, and HLRCC-Associated Renal Cell Carcinoma. Clin Cancer Res. 2023 01 17; 29(2):341-348.
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Esplin ED, Nielsen SM, Bristow SL, Garber JE, Hampel H, Rana HQ, Samadder NJ, Shore ND, Nussbaum RL. Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer. JCO Precis Oncol. 2022 09; 6:e2100516.
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Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC. Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome. Curr Opin Ophthalmol. 2021 Nov 01; 32(6):567-573.
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Pearlman R, Frankel WL, Swanson BJ, Jones D, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Prior TW, Haut M, Kalady MF, Heald B, Paquette I, Draper DJ, Brell JM, Mahesh S, Weeman K, Bastola S, Zangmeister J, Gowda A, Kencana F, Malcolm A, Liu Y, Cole S, Bane C, Li C, Rehmus E, Pritchard CC, Shirts BH, Jacobson A, Cummings SA, de la Chapelle A, Hampel H. Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative. JCO Precis Oncol. 2021; 5.
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Golmard L, Vasta LM, Duflos V, Corsini C, Dubois d'Enghien C, McMaster ML, Harney LA, Carr AG, Ling A, Dijoud F, Gauthier A, Miettinen M, Cost NG, Gauthier-Villars M, Orbach D, Irtan S, Haouy S, Schultz KA, Stoppa-Lyonnet D, Coupier I, Stewart DR, Sirvent N. Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome. J Med Genet. 2022 04; 59(4):346-350.
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Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
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Salem ME, Puccini A, Grothey A, Raghavan D, Goldberg RM, Xiu J, Korn WM, Weinberg BA, Hwang JJ, Shields AF, Marshall JL, Philip PA, Lenz HJ. Landscape of Tumor Mutation Load, Mismatch Repair Deficiency, and PD-L1 Expression in a Large Patient Cohort of Gastrointestinal Cancers. Mol Cancer Res. 2018 05; 16(5):805-812.
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Zaanan A, Shi Q, Taieb J, Alberts SR, Meyers JP, Smyrk TC, Julie C, Zawadi A, Tabernero J, Mini E, Goldberg RM, Folprecht G, Van Laethem JL, Le Malicot K, Sargent DJ, Laurent-Puig P, Sinicrope FA. Role of Deficient DNA Mismatch Repair Status in Patients With Stage III Colon Cancer Treated With FOLFOX Adjuvant Chemotherapy: A Pooled Analysis From 2 Randomized Clinical Trials. JAMA Oncol. 2018 Mar 01; 4(3):379-383.
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Ciombor KK, Goldberg RM. Hypermutated Tumors and Immune Checkpoint Inhibition. Drugs. 2018 Feb; 78(2):155-162.
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Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 2017 07 28; 357(6349):409-413.