Observations of inherited susceptibility to multiple myeloma have led to active research in defining predisposing genes to the disease. Here, we analysed 128 plasma cell dyscrasia patients' germline whole-exome sequencing data. Rare dominantly inherited pathogenic or likely pathogenic (P/LP) variant was found in 9.4% of the patients. Among the P/LP variants, p. Thr410MetfsTer15) was the most prevalent ( 5, 3.9%). Interestingly, P/LP variants in were identified in three patients (2.3%). Our findings broaden the spectrum of -related cancers and demonstrate the importance of the germline genetic analysis in hematological malignancies.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9713058 | PMC |
http://dx.doi.org/10.1002/jha2.557 | DOI Listing |
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