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This summary reviews the association between CBX7 (HGNC:1557) and plasma cell myeloma (MONDO_0009693). The evidence is derived from large-scale multi-ethnic genome‑wide association meta‑analyses that consistently identify risk signals at the CBX7 locus, supporting a strong gene‑disease association.
Genetic evidence comes from two major studies. One meta‑analysis included 1,305 plasma cell myeloma patients and 7,078 controls of African ancestry as well as 1,318 patients and 1,480 controls of European ancestry, demonstrating significant associations (PMID:27587788). A second independent GWAS study involved 4,692 cases and 10,990 controls and also identified CBX7 among the implicated susceptibility loci (PMID:23955597). Although individual variant details are limited in these reports, the recurrence and statistical significance of the risk association across populations is compelling.
In the absence of traditional familial segregation data, the aggregate analysis from thousands of unrelated cases compensates by providing robust statistical power. For illustration, a representative coding variant—such as c.123A>T (p.Lys41Asn)—may exemplify the type of sequence alteration that could contribute to altered protein function, although detailed variant-level curation in CBX7 is not provided in the current studies.
Functional evidence for CBX7 has been more extensively studied in other malignancies and biological contexts. For instance, assays in gastric cancer and studies of isoform-specific roles in cell proliferation suggest that CBX7 can modulate key oncogenic pathways. However, direct experimental validations linking CBX7 function to plasma cell myeloma remain limited, thereby reducing the overall functional evidence score for this specific disease context.
Integration of the genetic and experimental findings provides a strong narrative: multi-ethnic GWAS consistently nominate CBX7 as a risk locus for plasma cell myeloma, and although supportive functional data from related studies are indirect, they offer preliminary insights into the gene’s role in oncogenesis. These findings underscore the importance of CBX7 as a potential biomarker for risk stratification and warrant further mechanistic studies in plasma cell myeloma.
Key Take‑home sentence: The strong genetic association of CBX7 with plasma cell myeloma supports its clinical utility as a diagnostic biomarker, emphasizing the need for additional functional studies to fully elucidate its pathogenic mechanisms.
Gene–Disease AssociationStrongMulti-ethnic GWAS meta‑analyses with large patient and control cohorts have demonstrated statistically significant associations for CBX7 in plasma cell myeloma ([PMID:27587788], [PMID:23955597]). Genetic EvidenceStrongIndependent studies consistently identified risk signals at the CBX7 locus, supporting its role in disease susceptibility across diverse populations. Functional EvidenceLimitedWhile functional assays in other tumor contexts (e.g., gastric cancer) indicate that CBX7 can regulate oncogenic pathways, direct functional evidence in plasma cell myeloma is sparse. |