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Recent genomic analyses of ovarian cancer have identified alterations in NLRP2B as part of a broader survey of copy number variations and epigenetic changes. In one study of 42 primary serous ovarian cancer samples with additional validation from TCGA cohorts (PMID:22174824), NLRP2B was included in a set of 346 genes demonstrating significant deletions or amplifications. A second independent study using SNP-based array analysis in an Italian ovarian cancer cohort further described a panel of candidate oncogenes and tumor suppressors, reinforcing the potential involvement of NLRP2B in ovarian cancer pathogenesis (PMID:33516089).
Despite its recurrent identification in large-scale genomic screens, detailed segregation data and precise variant-level evidence for NLRP2B are lacking. No specific point mutations or functional assays directly interrogating the gene’s role have been reported. Overall, the combined genetic and limited experimental evidence supports a limited gene–disease association for NLRP2B in ovarian cancer. Continued investigation is warranted to better define its mechanistic role and potential clinical utility in diagnostic decision-making.
Gene–Disease AssociationLimitedNLRP2B was identified among 346 genes with significant copy number alterations in ovarian tumors (PMID:22174824) and nominated in an independent CNA study (PMID:33516089), but lacks detailed segregation and variant-level data. Genetic EvidenceLimitedThe evidence is based solely on high-throughput CNV and methylation analyses without isolated pathogenic variants or familial segregation data. Functional EvidenceLimitedNo direct functional or experimental assays have been reported to validate the biological impact of NLRP2B alterations in ovarian cancer. |