Identification and characterization of novel potentially oncogenic mutations in the human gene in a breast cancer patient - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Breast Cancer Research and Treatment Année : 2011

Identification and characterization of novel potentially oncogenic mutations in the human gene in a breast cancer patient

Résumé

BAF57 is a core subunit present in all mammalian SWI/SNF ATP-dependent chromatin remodeling complexes, which regulates important biological processes including gene transcription, DNA recombination, DNA repair, and DNA replication. Among other functions, BAF57 mediates the recruitment of SWI/SNF to sequence-specific transcription factors. Thus, BAF57 plays a crucial role in regulating estrogen-dependent gene expression and proliferation in human cell lines derived from breast tumors. Increasing genetic and biochemical evidences suggest that mutations in BAF57 or alterations in its expression could play an oncogenic role in the mammary gland. Here, we describe two novel mutations in the gene found in a breast cancer patient. Both mutations originate premature stop codons, leading to truncated proteins, structurally similar to another BAF57 mutant previously found in a human cell line derived from a breast tumor (BT-549). The expression of these novel BAF57 mutants has abnormally high estrogen receptor alpha (ERα) coactivating potential, suggesting that they might be involved in the aberrant estrogen-dependent proliferation that occur in the majority of breast tumors that retain ERα expression. In addition, the mutations in BAF57 affect its functional interaction with the androgen receptor and ETS2, two transcription factors that play an important role in breast cell biology. Therefore, mutations in BAF57 could impinge on several oncogenic signaling pathways contributing to the origin and/or development of breast cancer.
Fichier principal
Vignette du fichier
PEER_stage2_10.1007%2Fs10549-011-1492-4.pdf (182.78 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-00629080 , version 1 (05-10-2011)

Identifiants

Citer

M. Ángeles Villaronga, Irene López-Mateo, Linn Markert, Enrique Espinosa, Juan Ángel Fresno Vara, et al.. Identification and characterization of novel potentially oncogenic mutations in the human gene in a breast cancer patient. Breast Cancer Research and Treatment, 2011, 128 (3), pp.891-898. ⟨10.1007/s10549-011-1492-4⟩. ⟨hal-00629080⟩

Collections

PEER
43 Consultations
153 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More