Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms
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DOI: 10.1182/blood-2020-134160
Abstract: Germline mutations in the shelterin component protection of telomeres 1 (POT1) were recently found to be associated with familial chronic lymphocytic leukemia (CLL), melanoma, glioma, and several other familial cancer syndromes. The role of POT1… read more here.
Keywords: hematologic; pot1 variants; malignancy; germline pot1 ... See more keywords
Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma
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DOI: 10.3390/genes13040591
Abstract: 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… read more here.
Keywords: pot1; lymphoma; germline pot1; variant ... See more keywords