A role for germline variants in multiple myeloma?
Brian A WalkerPublished in: Blood cancer discovery (2024)
In Blood Cancer Discovery, Thibaud and colleagues report the incidence of pathogenic germline variants (PGVs) in multiple myeloma patients and that these are associated with DNA repair pathway genes including BRCA1 and BRCA2. They find an association of patients with PGVs and previous family or personal history of cancer and that these patients are diagnosed slightly earlier than those without PGVs. Patients with PGVs had a longer progression free survival than those without PGVs when they received high dose melphalan and autologous stem cell transplant, providing a therapeutic rationale for diagnostic germline testing in myeloma.
Keyphrases
- dna repair
- multiple myeloma
- high dose
- end stage renal disease
- stem cells
- newly diagnosed
- free survival
- ejection fraction
- chronic kidney disease
- papillary thyroid
- prognostic factors
- dna damage
- peritoneal dialysis
- copy number
- small molecule
- gene expression
- genome wide
- squamous cell carcinoma
- young adults
- squamous cell
- oxidative stress
- mesenchymal stem cells
- dna methylation
- transcription factor
- lymph node metastasis
- breast cancer risk