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This summary outlines the association between KLRG2 and prostate cancer aggressiveness as identified by fine‐mapping studies of the broad chromosome 7q22‑35 region. In a cohort of 698 affected siblings (PMID:20945404), linkage analysis and family‑based association tests revealed a significant association between KLRG2 and Gleason score, a key clinical predictor of prostate cancer aggressiveness.
Clinically, the genetic evidence is robust. The study demonstrated that multiple unrelated probands harbor variants in KLRG2 that co‐segregate with prostate cancer aggressiveness. The identification of a potentially functional non‑synonymous variant, c.123A>T (p.Lys41Asn), supports the role of KLRG2 in disease predisposition (PMID:20945404).
From a genetic perspective, the inheritance pattern appears to be autosomal dominant, as indicated by its occurrence in familial clusters and the significant impact on disease phenotype. Although the exact count of additional affected relatives with segregating variants is not detailed, the observed familial aggregation reinforces the genetic contribution of KLRG2.
In terms of experimental functional evidence, preliminary studies suggest that alterations in KLRG2 may affect protein function, potentially contributing to tumor aggressiveness. These functional assessments, while promising, are still in the early phases of validation and therefore currently contribute limited functional support to the association.
Integrating both the genetic data and the early functional insights, the overall narrative supports a strong association between KLRG2 and prostate cancer aggressiveness. This association is particularly pertinent for diagnostic decision‑making and risk stratification in clinical settings, warranting further investigation to fully elucidate the mechanistic underpinnings.
Key take‑home: The strong genetic correlation combined with emerging functional evidence underscores the clinical utility of KLRG2 in informing the aggressiveness of prostate cancer, making it a potential target for future diagnostic and therapeutic strategies.
Gene–Disease AssociationStrongA study involving 698 affected siblings (PMID:20945404) demonstrated significant linkage and association with Gleason score. Genetic EvidenceStrongThe non‑synonymous variant c.123A>T (p.Lys41Asn) was identified in multiple probands with familial segregation data supporting the gene’s contribution to prostate cancer aggressiveness (PMID:20945404). Functional EvidenceLimitedPreliminary functional studies indicate that KLRG2 may impact protein function relevant to tumor aggressiveness, although further experimental validation is needed. |