Rare germline variants in regions of loss of heterozygosity may influence clinical course of hematological malignancies


Somatically acquired uniparental disomy (UPD) has been recognized as a common mechanism of mutation amplification in cancer. Somatic heterozygous mutations can become homozygous if the chromosomal arm harboring the mutation undergoes mitotic recombination and two chromosomes carrying the mutation segregate into the same daughter cell. As a result, UPD occurs, accompanied by loss of heterozygosity from the recombination breakpoint to the telomere of the affected chromosomal arm. UPD of chromosome 9p is a frequent event in myeloproliferative neoplasms and was found to be associated with the oncogenic V617F mutation of the JAK2 gene.


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