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Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma

Germline disruptive variants in Protection of Telomeres 1 (POT1) predispose to a wide variety of cancers, including melanoma, chronic lymphocytic leukemia (CLL), Hodgkin lymphoma, myeloproliferative neoplasms, and glioma. We report the first case of splenic marginal zone lymphoma (SMZL) arising in a...

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Detalles Bibliográficos
Autores principales: Jajosky, Audrey N., Mitchell, Anna L., Akgul, Mahmut, Shetty, Shashirekha, Yoest, Jennifer M., Gerson, Stanton L., Sadri, Navid, Oduro, Kwadwo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028718/
https://www.ncbi.nlm.nih.gov/pubmed/35456397
http://dx.doi.org/10.3390/genes13040591