| Title: | Multiple myeloma risk linked to DNA damage response genes |
| Journal: | Journal of Hematology & Oncology |
| Published: | 6 Jan 2026 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/41495781/ |
| DOI: | https://doi.org/10.1186/s13045-025-01776-1 |
| URL: | http://dx.doi.org/10.1186/s13045-025-01776-1 |
Publication 16873
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
BackgroundDNA damage response genes (DDRG), implicated in several cancers as both predisposing risk factors as well as biomarkers for aggressiveness, have not been fully explored in multiple myeloma (MM).MethodsHerein, we analyzed disease associations of pathogenic variations in nine putative candidate genes using 3 446 MM cases and 323 233 cancer-free controls.ResultsIncreased MM risk was found to be associated with inherited rare pathogenic mutations in TP53, ATM, CHEK2, KDM1A, and ARID1A, with an enrichment of these variants among individuals with early onset or family history of MM. Individuals with TP53 or ATM germline mutations are also likely to have worse overall survival.ConclusionsOur results suggest expansion of the phenotypic spectrum of some of these DDRG to include MM. The identification of these germline predisposition genes opens the avenue for targeted screening of higher risk individuals especially those with young-onset or a family history of plasma cell gammopathies.</p>
27 Authors
- Michael Conry
- Irina Ostrovnaya
- Yelena Kemel
- Saloni Sinha
- Linda B. Baughn
- Brian Avery
- Kylee Maclachlan
- Victoria Groner
- Lauren Banaszak
- Aaron Norman
- Nicholas J. Boddicker
- Alyssa Clay-Gilmour
- Shaji Kumar
- Ellen Kim
- Sita Dandiker
- Mitul Waghmare
- Susan Slager
- Douglas W. Sborov
- Judy Garber
- Elizabeth E. Brown
- Michelle Hildebrandt
- Parameshwaran Hari
- Nicola Camp
- Celine Vachon
- Saad Usmani
- Kenneth Offit
- Vijai Joseph
1 Application
| Application ID | Title |
|---|---|
| 50092 | Delineating Germline Genes that Predispose to Cancer |
Enabling scientific discoveries that improve human health