1.Expression of Breast Cancer Resistance Protein Gene in Breast Cancer Patients and Its Value in Evaluating the Therapeutic Effect of Chemotherapy for Breast Cancer
Haiyan YANG ; Cailing TONG ; Taifang JI
Journal of Guangzhou University of Traditional Chinese Medicine 2004;0(06):-
Objective To observe the expression of breast cancer resistance protein(BCRP) gene in breast cancer patients,and to explore its value in evaluating the therapeutic effect of chemotherapy for breast cancer.Methods Semi-quantitative reverse-transcription polymerase chain reaction(RT-PCR) was applied for the detection of mammary BCRP gene expression level in 60 female breast cancer patients who have received chemical therapeutic regimen of CEF(cyclophosphamide,epirubicin and 5-fluorouracil).The patients were divided into two groups according to the BCRP gene expression before CEF therapy.After treatment,the therapeutic effect in the two groups was observed and the BCRP gene expression level was also measured.Results In 17(17/60,28.3%) patients with positive BCRP gene expression,11 were relieved,with a relief rate of 64.7%,lower than 93.0% in patients with negative BCRP gene expression(P
2.Research progress on selective tooth agenesis caused by LRP6 gene mutation
JIANG Cailing ; ZHAO Bin ; WU Yiqun
Journal of Prevention and Treatment for Stomatological Diseases 2023;31(3):223-228
Selective tooth agenesis (STA) is an abnormal number of teeth due to genetic factors or the environment and is most commonly observed for permanent teeth. LRP6 is one of the common causative genes of STA and is inherited by an autosomal dominant mechanism, leading to non-syndrome tooth agenesis (NSTA) or syndrome tooth agenesis (STA). NSTA is only involved in tooth number and appearance abnormalities, whereas STA caused by LRP6 gene mutation results abnormal ear development, oral-facial clefting, sparse hair and hypohidrosis. In this paper, we review the phenotype and gene mutation traits of selective STA caused by LRP6 gene mutation identified in recent years and describe 38 patients with tooth agenesis from 24 mutation sites of LRP6 gene. We analyzed the percentage of missing teeth and found that the lateral incisor in the maxilla and the second premolar in the maxilla and mandible were most commonly lost, whereas all central incisors in the maxilla remained. LRP6 gene plays a major role in tooth development via the WNT/β-catenin signaling pathway, and LRP6 gene mutation can lead to a series of abnormal manifestations due to the disruption of the signaling pathway. The literature showed that LRP6 gene mutations occurred mostly at the E1 or E2 subdomain, meaning that STA due to the mutants extracellularly disturbed the WNT/β-catenin signaling pathway. However, mature treatments for selective congenital tooth loss are lacking.