@article{76095078d4a14529a59d9a7f39cba95b,
title = "Different phenotypes with different endings—Telomere biology disorders and cancer predisposition with long telomeres",
abstract = "Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin complex genes that lead to excessive telomere elongation and increased cellular replicative capacity. While telomeres are at the root of both disorders, the term TBD is used to convey the clinical phenotypes driven by critically short or otherwise dysfunctional telomeres and their biological consequences.",
keywords = "cancer, genetics, telomere",
author = "{Team Telomere and the Clinical Care Consortium for Telomere-Associated Ailments (CCCTAA)} and Savage, {Sharon A.} and Bertuch, {Alison A.} and Suneet Agarwal and Geraldine Aubert and Fabian Beier and Carmem Bonfim and Bryan, {Tracy M.} and Calado, {Rodrigo T.} and Chang, {Vivian Y.} and Churpek, {Jane E.} and Cowen, {Edward W.} and DiNardo, {Courtney D.} and Carlo Dufour and Ebens, {Christen L.} and Fox, {Lucy C.} and Neelam Giri and Gloude, {Nicholas J.} and Frederick Goldman and Groarke, {Emma M.} and Fernanda Gutierrez-Rodrigues and Johnson, {F. Bradley} and Kratz, {Christian P.} and Abhishek Mangaonkar and McReynolds, {Lisa J.} and Maria Molina-Molina and Myers, {Kasiani C.} and Nakano, {Taizo A.} and Nelson, {Adam S.} and Niewisch, {Marena R.} and Raby, {Benjamin A.} and Reilly, {Christopher R.} and Akiko Shimamura and Orna Steinberg-Shemer and Tung, {Moon Ley} and Wlodarski, {Marcin W.} and Joanne Yacobovich and Inderjeet Dokal and Dirk Hockemeyer and Longhurst, {Hilary J.} and Stevens, {Katie A.} and Hemanth Tummala and Vulliamy, {Tom J.}",
note = "Publisher Copyright: Published 2024. This article is a U.S. Government work and is in the public domain in the USA. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.",
year = "2024",
doi = "10.1111/bjh.19851",
language = "אנגלית",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley and Sons Inc.",
}
