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BAIAP2 – Breast Cancer

BAIAP2 has been implicated in breast cancer susceptibility as evidenced by two independent case‑control studies conducted in African‑American cohorts. In a large study using a custom SNP array, gene‑based analyses of the insulin/insulin‑like growth factor, growth hormone, and leptin pathways revealed statistically significant associations (P ≈ 0.01 (PMID:27942580)) for BAIAP2 with overall breast cancer risk. A second study focusing on miRNA gene variation also localized a novel breast cancer signal to an 8.6‑kb region encompassing the first intron of BAIAP2 (PMID:29871690); however, no single coding variant in HGVS nomenclature was definitively implicated in these analyses.

Overall, the genetic evidence for BAIAP2 in breast cancer remains limited. There is an absence of robust family‐based segregation data and functional studies directly linking BAIAP2 perturbations to breast tumorigenesis. Additional work is needed to clarify the pathogenic mechanism, as current functional assessments of BAIAP2 focus on its role in cytoskeletal dynamics rather than on breast tissue biology. Key take‑home: while preliminary association signals support BAIAP2 as a potential risk modifier in breast cancer among African‑American women, further in‑depth genetic and experimental studies are required before clinical implementation.

References

  • NPJ Breast Cancer • 2016 • Genetic variation in the insulin, insulin‑like growth factor, growth hormone, and leptin pathways in relation to breast cancer in African‑American women: the AMBER consortium PMID:27942580
  • Breast Cancer Research • 2018 • A survey of microRNA single nucleotide polymorphisms identifies novel breast cancer susceptibility loci in a case‑control, population‑based study of African‑American women PMID:29871690

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Two independent case‑control analyses in African‑American cohorts (totaling >3,600 cases) reported statistically suggestive associations with breast cancer; however, there is no segregation data or robust functional validation supporting a direct causal role.

Genetic Evidence

Limited

Association signals arise from SNP‑based risk models with modest effect sizes and lack a definitive coding variant in HGVS format.

Functional Evidence

Limited

Functional studies on BAIAP2 have not yet been extended to breast cancer models, limiting mechanistic insights for this specific association.