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EPCAM – Hereditary Breast Carcinoma

EPCAM has been included in large multigene panel testing of hereditary breast carcinoma but no germline pathogenic EPCAM variants have been reported in association with the disease. In an Asian cohort of 460 probands tested, pathogenic mutations were identified in BRCA1/2 and other breast cancer genes, yet none in EPCAM ([PMID:30875412]). Somatic functional studies demonstrate that cancer-associated EpCAM mutations can cooperate with H-Ras to drive epithelial-to-mesenchymal transition in breast epithelial cells, supporting a mechanistic role in tumor progression but not germline predisposition ([PMID:37192201]). Currently, there are no segregation data or reported EPCAM variants in familial breast cancer, and clinical validity remains limited.

References

  • PloS one • 2019 • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world. [PMID:30875412]
  • PloS one • 2023 • Cytosolic EpCAM cooperates with H-Ras to regulate epithelial to mesenchymal transition through ZEB1. [PMID:37192201]

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

No germline EPCAM pathogenic variants identified among 460 probands tested in hereditary breast carcinoma panels

Genetic Evidence

Limited

Inclusion in multigene testing (460 probands) without EPCAM mutations ([PMID:30875412])

Functional Evidence

Limited

Somatic EpCAM mutations promote EMT in breast epithelial cells but germline relevance is unproven ([PMID:37192201])