Germline predisposition in multiple myeloma.

ABSTRACT: We present a study of rare germline predisposition variants in 954 unrelated individuals with multiple myeloma (MM) and 82 MM families. Using a candidate gene approach, we identified such variants across all age groups in 9.1% of sporadic and 18% of familial cases. Implicated genes included genes suggested in other MM risk studies as potential risk genes (DIS3, EP300, KDM1A, and USP45); genes involved in predisposition to other cancers (ATM, BRCA1/2, CHEK2, PMS2, POT1, PRF1, and TP53); and BRIP1, EP300, and FANCM in individuals of African ancestry. Variants were characterized using loss of heterozygosity (LOH), biallelic events, and gene expression analyses, revealing 31 variants in 3.25% of sporadic cases for which path

SUBMITTER: Martins Rodrigues F 

PROVIDER: S-EPMC11750583 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature