Below are the most recent publications written about "Neoplastic Syndromes, Hereditary" by people in Profiles.
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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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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 10; 188(10):3084-3088.
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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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Gomella PT, Linehan WM, Ball MW. Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management. Genes (Basel). 2021 02 11; 12(2).
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Loeb S, Giri VN. Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer. Eur Urol Oncol. 2021 02; 4(1):1-9.
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Azad NS, Gray RJ, Overman MJ, Schoenfeld JD, Mitchell EP, Zwiebel JA, Sharon E, Streicher H, Li S, McShane LM, Rubinstein L, Patton DR, Williams PM, Coffey B, Hamilton SR, Bahary N, Suga JM, Hatoum H, Abrams JS, Conley BA, Arteaga CL, Harris L, O'Dwyer PJ, Chen AP, Flaherty KT. Nivolumab Is Effective in Mismatch Repair-Deficient Noncolorectal Cancers: Results From Arm Z1D-A Subprotocol of the NCI-MATCH (EAY131) Study. J Clin Oncol. 2020 01 20; 38(3):214-222.
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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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Chandrasekar T, Gross L, Gomella LG, Hegarty SE, Leong JY, Giri VN. Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men. Eur Urol Oncol. 2020 06; 3(3):291-297.