Isidro Glória, Laranjeira Francisco, Pires Ana, Leite Júlio, Regateiro Fernando, Castro e Sousa F, Soares José, Castro Clara, Giria João, Brito Maria J, Medeira Ana, Teixeira Ricardo, Morna Henrique, Gaspar Isabel, Marinho Carla, Jorge Rosa, Brehm António, Ramos J Silva, Boavida Maria Guida
Instituto Nacional de Saúde Dr Ricardo Jorge, Centro de Genética Humana, Lisboa, Portugal.
Hum Mutat. 2004 Oct;24(4):353-4. doi: 10.1002/humu.9282.
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described.
碱基切除修复（BER）基因MUTYH（MYH）中的胚系突变最近被描述与多发性结直肠腺瘤和癌症的易感性有关。与由于APC基因胚系突变导致的家族性腺瘤性息肉病（FAP）的经典显性情况不同，MYH息肉病是一种常染色体隐性疾病。识别受MYH息肉病影响的个体为这些患者的诊断、筛查、遗传咨询、随访和治疗选择带来了新的重要意义。在本研究中，对53名患有多发性结直肠腺瘤或经典腺瘤性息肉病且APC基因未发现突变的葡萄牙个体进行了MYH基因胚系突变筛查。结果显示21名患者存在双等位基因胚系MYH突变。此外，我们在此报告3种突变（c.340T>C [p.Y114H]；c.503G>A [p.R168H]；以及c.1186_1187insGG [p.E396fsX437]），据我们所知，此前尚未有过描述。
