A missense TCF1 mutation in a patient with mody‐3 and liver adenomatosis
A missense TCF1 mutation in a patient with mody‐3 and liver adenomatosis
复制标题
mody-3 肝腺瘤患者中的 TCF1 错义突变
作者：
A. M. Lerario;Luciana Pinto Brito;Beatriz Marinho Mariani;Maria Candida B V Fragoso;Marcel Cerqueira Cesar Machado;Roberto Teixeira
这种疾病是由tcf1基因的杂合种系突变引起的。该基因编码的产物是肝细胞核因子1 α (HNF-1a - accession number NP_000536)转录因子，在胰腺、肝脏和肾脏等器官中具有重要的生理作用。肝细胞腺瘤是一种良性肿瘤，通常发展为孤立结节，90%的病例与口服避孕药有关。另一方面，肝腺瘤病（LA）的特征是存在多个结节（通常超过5个），由于男性患病率较高且与ocs的关系尚不清楚，因此被认为是一种独特的疾病。
This diseaseis caused by heterozygous germline mutations of the TCF1gene. The product encoded by this gene is the hepatocytenuclear factor 1 alpha (HNF-1a – accession number NP_000536) transcription factor, which has important physiolo-gic roles in organs such as the pancreas, liver and kidneys.Hepatocellular adenomas are benign neoplasms thatusually develop as a solitary nodule and are associatedwith oral contraceptive use in 90% of cases. On the otherhand, liver adenomatosis (LA) is characterized by thepresence of multiple nodules (usually more than 5) and isconsidered to be a distinct disease, due to the higherprevalence in male sex and the unclear association withOCs.