Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.
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ABSTRACT:
SUBMITTER: Shih AJ
PROVIDER: S-EPMC11246702 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Publications
Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.
Shih Andrew J AJ Jun Tomi T Skol Andrew D AD Bao Riyue R Huang Lei L Vora Sapana S McNerney Megan E ME Hungate Eric A EA Le Beau Michelle M MM Larson Richard A RA Elliott Aaron A Lu Hsiao-Mei HM Huether Robert R Hernandez Felicia F Stölzel Friedrich F Allan James M JM Onel Kenan K
British journal of haematology 20221109 4
Some patients with therapy-related myeloid neoplasms (t-MN) may have unsuspected inherited cancer predisposition syndrome (CPS). We propose a set of clinical criteria to identify t-MN patients with high risk of CPS (HR-CPS). Among 225 t-MN patients with an antecedent non-myeloid malignancy, our clinical criteria identified 52 (23%) HR-CPS patients. Germline whole-exome sequencing identified pathogenic or likely pathogenic variants in 10 of 27 HR-CPS patients compared to 0 of 9 low-risk CPS patie ...[more]
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