AFDN
Overview
AFDN (Afadin, also known as MLLT4) encodes an actin filament-binding protein that plays a role in cell-cell junction formation and tissue organisation. In cancer genomics, AFDN is nominated as a tumor suppressor in breast cancer through combined evidence of homozygous deletion (HD) and inactivating mutations. It forms part of a “tissue-organisation” cluster together with CDH1 and CTNNA1, where loss of function may disrupt epithelial integrity.
Alterations observed in the corpus
- Identified as an HD-defined TSG and newly nominated breast-cancer Mut-driver via combined homozygous-deletion and inactivating-mutation evidence; part of the CDH1/CTNNA1/AFDN tissue-organisation cluster in the METABRIC 2,433-sample cohort; functional confirmation as a breast-cancer TSG awaits future work PMID:27161491
Cancer types (linked)
- BRCA (breast cancer): Nominated as a Mut-driver in ER+ disease via combined HD and inactivating-mutation analysis; enriched within a tissue-organisation gene cluster PMID:27161491
Co-occurrence and mutual exclusivity
- Co-nominated alongside CDH1 and CTNNA1 as part of the tissue-organisation cluster of breast-cancer TSGs PMID:27161491
Therapeutic relevance
- No direct targeted therapy established; cross-cancer driver status noted — therapies developed in other cancer types may be applicable where AFDN loss is confirmed PMID:27161491
Open questions
- Functional confirmation of AFDN/MLLT4 as a breast-cancer TSG is left to future work; the biological role of the CDH1/CTNNA1/AFDN tissue-organisation cluster requires experimental validation PMID:27161491
Sources
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