A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families

[摘要] 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, CHEK2 ( p. Thr410MetfsTer15) was the most prevalent ( n = 5, 3.9%). Interestingly, P/LP variants in POT1 were identified in three patients (2.3%). Our findings broaden the spectrum of  POT1 -related cancers and demonstrate the importance of the germline genetic analysis in hematological malignancies.

[关键词] genetic analysis;multiple myeloma;germline mutations