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Raap, Mieke; Gierendt, Lisa; Kreipe, Hans H.; Christgen, Matthias
International journal of cancer, 15 September 2021, Volume: 149, Issue: 6Journal Article
To date, the AP‐2 family of transcription factors comprises five members. Transcription factor AP‐2beta (TFAP2B)/AP‐2β was first described in 1995. Several studies indicate a critical role of AP‐2β in the development of tissues and organs of ectodermal, neuroectodermal and also mesodermal origin. Germline mutation of TFAP2B is known to cause the Char syndrome, an autosomal dominant disorder characterized by facial dysmorphism, patent ductus arteriosus and anatomical abnormalities of the fifth digit. Furthermore, single‐nucleotide polymorphisms in TFAP2B were linked to obesity and specific personality traits. In neoplasias, AP‐2β was first described in alveolar rhabdomyosarcoma. Immunohistochemical staining of AP‐2β is a recommended ancillary test for the histopathological diagnosis of this uncommon childhood malignancy. In neuroblastoma, AP‐2β supports noradrenergic differentiation. Recently, the function of AP‐2β in breast cancer (BC) has gained interest. AP‐2β is associated with the lobular BC subtype. Moreover, AP‐2β controls BC cell proliferation and has a prognostic impact in patients with BC. This review provides a comprehensive overview of the current knowledge about AP‐2β and its function in organ development, differentiation and tumorigenesis.
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