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A recent genetic study investigating molecular markers in breast cancer evaluated a cohort of 171 Lithuanian women and identified that the BBC3 rs2032809 polymorphism is significantly associated with breast cancer phenotype and prognosis (PMID:34441352). Although this finding derives from a single case series without supporting family segregation data, it provides preliminary evidence linking BBC3 to breast cancer risk. The observational nature of the study and the lack of corroborative reports limit the overall strength of the genetic association.
Complementary functional studies in other cancer types have demonstrated that BBC3 (also known as PUMA) plays a critical role in mediating p53-dependent apoptosis, as evidenced by in vitro binding experiments (PMID:22446329). While these experiments were not conducted specifically in breast cancer models, the mechanistic insights support a biological basis for BBC3’s involvement in tumorigenesis. Key take‑home: Despite limited human genetic evidence, the established role of BBC3 in apoptotic regulation underscores its potential utility as a prognostic marker in breast cancer.
Gene–Disease AssociationLimitedAssociation supported by a single study of 171 individuals with significant findings (PMID:34441352); lack of segregation data limits overall confidence. Genetic EvidenceLimitedA single case series identified an association of the BBC3 rs2032809 polymorphism with breast cancer phenotype, providing preliminary genetic evidence (PMID:34441352). Functional EvidenceLimitedFunctional studies in other cancer models demonstrate that BBC3 (PUMA) is essential for p53-mediated apoptosis (PMID:22446329), indirectly supporting its potential role in breast cancer despite limited direct data. |