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Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms

3 Sept 2021

Abstract excerpt

The molecular causes of myeloproliferative neoplasms (MPNs) have not yet been fully elucidated. Approximately 7% to 8% of the patients carry predisposing genetic germline variants that lead to driver mutations, which enhance JAK-STAT signaling. To identify additional predisposing genetic germline variants, we performed whole-exome sequencing in 5 families, each with parent-child or sibling pairs affected by MPNs...

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PMID: 34477817
DOI: 10.1182/bloodadvances.2021004811

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