Below are the most recent publications written about "Neoplastic Syndromes, Hereditary" by people in Profiles.
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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 Oct; 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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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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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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Wheeler KC, Warr DJ, Warsetsky SI, Barmat LI. Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. Fertil Steril. 2016 Jan; 105(1):144-8.
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Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014 Sep; 12(9):1339-46.
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Walter AW, Ennis S, Best H, Vaughn CP, Swensen JJ, Openshaw A, Gripp KW. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Pediatr Blood Cancer. 2013 Nov; 60(11):E135-6.
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Trufant J, Robinson M, Patel R. Brooke-Spiegler syndrome. Dermatol Online J. 2012 Dec; 18(12):16.
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Adonizio CS, Grana G, Sharan K, Rose L, Zibelli A, Miller-Samuel S, Morris GJ. Recurrent early-stage triple-negative breast cancer. Semin Oncol. 2010 Oct; 37(5):419-28.