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Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants.
Ferrer, Alejandro; Lasho, Terra; Fernandez, Jenna A; Steinauer, Nickolas P; Simon, Rachel A; Finke, Christy M; Carmona, Eva M; Wylam, Mark E; Ongie, Laura J; Burnap, Brittany N; Arana Yi, Cecilia; Sproat, Lisa Z; Foran, James; Badar, Talha; Mangaonkar, Abhishek A; Patnaik, Mrinal M.
Affiliation
  • Ferrer A; Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
  • Lasho T; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Fernandez JA; Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
  • Steinauer NP; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Simon RA; Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
  • Finke CM; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Carmona EM; Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Wylam ME; Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
  • Ongie LJ; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Burnap BN; Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
  • Arana Yi C; Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Sproat LZ; Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Foran J; Department of Clinical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
  • Badar T; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Mangaonkar AA; Division of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.
  • Patnaik MM; Division of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.
Am J Hematol ; 98(12): E357-E359, 2023 12.
Article in En | MEDLINE | ID: mdl-37665761
ABSTRACT
Somatic mosaic states in telomere biology disorders are characterized by somatic variants in the spliceosome and DNA damage response and repair pathways. A likely maladaptive response to short telomeres that may lead to increased hematological cancer.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telomere / Telomerase Limits: Humans Language: En Journal: Am J Hematol Year: 2023 Document type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telomere / Telomerase Limits: Humans Language: En Journal: Am J Hematol Year: 2023 Document type: Article Affiliation country: United States