Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
Two genome‑wide association studies have evaluated candidate susceptibility loci for breast cancer in diverse populations. In one study of a Han Chinese cohort, 487 breast cancer cases and 522 controls were analyzed; although one SNP (rs10941679) reached significance (PMID:24528085), the association for ZNF577 was based solely on its inclusion in the panel of European‑ancestry‑associated genes without definitive replication. In a second study from an Alberta cohort of 3,064 women, ZNF577 was again examined as a potential candidate, but the joint analyses did not meet genome‑wide significance after correction (PMID:21424380). These findings indicate that while ZNF577 is a gene of interest, the evidence remains limited by the absence of segregation data and robust replication.
The genetic evidence is further limited by the lack of reported HGVS‐coded variants and absence of functional assessment studies. No familial segregation or functional data have yet elucidated a specific mechanism of pathogenicity for ZNF577 in breast cancer. Overall, current data do not support a definitive model of inheritance but suggest a candidate role in breast cancer that requires further validation. Key take‑home sentence: Although ZNF577 emerges from candidate gene panels, its clinical utility in diagnostic decision‑making remains limited pending more definitive genetic and functional evidence.
Gene–Disease AssociationLimitedCandidate gene association identified in two multi‐patient GWAS studies with modest sample sizes (487 cases, 522 controls [PMID:24528085] and 3,064 women [PMID:21424380]) but lacking robust replication and segregation evidence. Genetic EvidenceLimitedGenetic data are restricted to association analyses without reported causative HGVS‐coded variants or family‐based segregation, thereby limiting the strength of the genetic evidence. Functional EvidenceLimitedNo functional assessment studies have been provided, resulting in an absence of experimental evidence to clarify the biological mechanism for ZNF577 in breast cancer. |