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Inherited Risk of Myeloma?
What is the inherited risk of myeloma? If any? This question is frequently asked in online groups. If you have a relative with MM, what are your risks of MM?
If you watch this video you probably won’t be bowled over by the certainty of what oncology says about the inherited risk of myeloma. You will however, hear loud and clear that a first degree relative increases the risk of a multiple myeloma diagnosis.
What Experts Are Learning About the Hereditary Risk of Myeloma
At the same time you will hear oncology talk about non-conventional therapies such as lifestyle, nutrition and your microbiome as having an influence on your risk of MM.
I am a long-term MM survivor. I have known for a while now that I should get genetic testing. I have been putting this testing off by telling myself that this area of MM study is at an early stage.
For better or for worse, we have to think about both our genetic makeup as well as how we live our lives as possible influences on multiple myeloma.
Email me at David.PeopleBeatingCancer@gmail.com with questions about multiple myeloma.
Thank you,
David Emerson
- MM Survivor
- MM Cancer Coach
- Director PeopleBeatingCancer
Genetic Study Sheds Light on Inherited Risk of Multiple Myeloma
Multiple myeloma (MM) had traditionally been considered not hereditary; however, emerging research suggests that there are familial risks to developing the disease. According to a genetic study, patients with MM are more likely to have inherited changes to pathogenic germline variants (PGVs) in the BRCA1, BRCA2, and other genes that increase cancer risk.
MM is an incurable, hematologic malignancy characterized by the uncontrolled growth of white blood cells, leading to renal failure, anemia, and brittle bones. Research shows that first-degree relatives of patients with MM have a 2- to 4-fold risk of MM or precursor conditions, as well as development of other solid and blood cancers…
An estimated 3.9 million individuals harbor a PGV in high-risk genes in the United States, of which most are unaware of their cancer risk. PGVs are becoming more prevalent in a wide range of solid tumors and hematologic cancers, including those without a known genetic cause. For health care professionals and patients, identifying PGVs is extremely valuable because it can help determine the need for individualized screening and preventative measures. Furthermore, patients with PGVs who have been diagnosed with cancer may benefit from therapeutic implications.
The researchers evaluated germline exomes from patients with MM to characterize the contribution of PGVs in HC genes to the risk of MM…
Across the 2 cohorts, PGVs were detected in approximately 10% of patients with MM. In the discovery cohort, 8.6% (77 of 895) of patients carried at least one PGV. A total of about 80 PGVs, representing 63 unique variants, were identified across 32 high-confidence genes, of which most were linked to DNA repair (81.3%), suggesting that defects in this process may contribute to MM development. The strongest associations were found in 2 key DNA repair pathways: homologous recombination, which repairs double-strand DNA breaks, and Fanconi anemia, a pathway that prevents DNA damage from accumulating.
In the replication cohort, 11.5% of patients were PGV carriers. The researchers found 95 heterozygous PGVs (73 unique variants) across 36 HC genes, of which 69.4% related to DNA repair. Homologous recombination (strength = 2.11, FDR = 1.65e−14) and Fanconi anemia (strength = 2.14, FDR = 8.76e−22) were the strongest pathway enrichments, which was also observed in the discovery group.
PGVs were found in 20 genes across both cohorts. The genes that were most frequently found to have high to moderate risk PGV (PGV-As) were ATM (n = 7; 2 in discovery, 5 in replication), CHEK2 (n = 8; 6 in discovery, 2 in replication), BRCA1 (n = 8; 1 in discovery, 7 in replication), and BRCA2 (n = 8; 4 in discovery, 4 replication). Of particular interest, DNA repair genes accounted for 95.3% of all PGV-As (100% in discovery, 91% in replication).
“Our study positions [MM] as a potential component of cancer-predisposing conditions associated with known HC genes, notably BRCA1/2,” the authors wrote. “The discovery of PGV-As in patients with [MM] not only highlights the importance of genetic testing for early detection and familial risk assessment but also opens up avenues for targeted therapeutic strategies that could significantly impact patient management and outcomes…”
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