Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Ahmad MH, Hegde M, Wong WJ, Mohammadhosseini M, Garrett L, Carrascoso A, Issac N, Ebert B, Silva JC, Pihan G, Zhu LJ, Wolfe SA, Agarwal A, Liu PP, Castilla LH. Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice. Blood Adv. 2023 12 12; 7(23):7304-7318.
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Roch AM, Kim RC, Nguyen TK, House MG, Zyromski NJ, Nakeeb A, Schmidt CM, Ceppa EP. Patients with deleterious germline mutations: A heterogeneous population for pancreatic cancer screening? J Surg Oncol. 2023 Aug; 128(2):289-294.
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Majhi PD, Sharma A, Jerry DJ. Genetic modifiers of p53: opportunities for breast cancer therapies. Oncotarget. 2023 03 24; 14:236-241.
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Seabrook A, Wijewardene A, De Sousa S, Wong T, Sheriff N, Gill AJ, Iyer R, Field M, Luxford C, Clifton-Bligh R, McCormack A, Tucker K. MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations. J Clin Endocrinol Metab. 2022 07 14; 107(8):2339-2349.
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Davidoff DF, Benn DE, Field M, Crook A, Robinson BG, Tucker K, De Abreu Lourenco R, Burgess JR, Clifton-Bligh RJ. Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study. J Clin Endocrinol Metab. 2022 04 19; 107(5):e1907-e1916.
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Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM. Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. J Clin Endocrinol Metab. 2021 01 01; 106(1):e350-e364.
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Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, L?ttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, G?nthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, ?unap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, V?llo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49).
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Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. Ann Surg Oncol. 2020 Oct; 27(10):3633-3640.
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He H, Li W, Comiskey DF, Liyanarachchi S, Nieminen TT, Wang Y, DeLap KE, Brock P, de la Chapelle A. A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres. Thyroid. 2020 02; 30(2):204-213.
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Cimadamore A, Lopez-Beltran A, Massari F, Santoni M, Mazzucchelli R, Scarpelli M, Galosi AB, Cheng L, Montironi R. Germline and somatic mutations in prostate cancer: focus on defective DNA repair, PARP inhibitors and immunotherapy. Future Oncol. 2020 Feb; 16(5):75-80.