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OBJECTIVE@#To investigate the profile and potential significance of PTEN and NBS1 mutations among patients with familial or at early onset breast cancer in Hunan province. @*METHODS@#A total of 131 breast cancer patients with familial history or suffered from breast cancer at the age of less than 35 years old were included in this study. A comprehensive phosphatase and tensin homolog (PTEN) and nibrin (NBS1) mutation analysis was performed through denaturing high performance liquid chromatography (DHPLC) and subsequent DNA direct sequencing. @*RESULTS@#Among 131 patients, a reported mutation IVS4+109insTCTTA in PTEN gene were identified in two patients. The mutation frequency of IVS4+109insTCTTA was 1.15%. Two mutations in PTEN gene, 225 A>C (Thr 160 Pro) and IVS5+13T>C, was firstly discovered. Another reported missense mutation was rs121909229 G>A (Arg 130 Gln). Three mutations were detected in NBS1 gene, of which IVS6+43A>G and IVS6+127A>G were firstly discovered and another reported synonymous mutations was rs1805794 G>C (Glu 185 Gln). @*CONCLUSION@#The novel mutations in PTEN and NBS1 might be specific to the familial and early-onset breast cancer of Chinese Hunan population.
Subject(s)
Adult , Female , Humans , Asian People , Breast Neoplasms , Genetics , Cell Cycle Proteins , Genetics , China , DNA Mutational Analysis , Mutation , Nuclear Proteins , Genetics , PTEN Phosphohydrolase , GeneticsABSTRACT
Objective To investigate the correlative factors of sentinel lymph node(SN) metastasis status in breast cancer.Methods The clinical data of 115 patients with breast cancer who underwent sentinel lymph node biopsy(SLNB) and axillary lymph node dissection(ALND) during June 2004 through April 2006 were retrospectively analysed.The SN metastasis were evaluated with regard to tumor size(≤2cm, 2.1cm~4cm)and C-erbB-2、p53、nm23、ER、PR status.Results Of the 115 patients SN was identified in 110(95.65%).An average of 1.97 SNs were examined per patient.Ninety-five(86.37%)of 110 patients were correctiy diagnosed in SN and AN.Thirty-six(37.89%)of 95 patients were SN positive,and 59(62.11%)were SN negative.Among the patients,SN metastasis rate in tumors 2.1cm~4cm((50.94)%) in diameter was highter compared with those ≤2cm(23.43%) in size(P0.05).Conclusions Tumor size and C-erbB-2 status were significantly associated with SN metastasis and may be used to predict SN metastasis in invasive breast cancer.
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Objecctive To study the expression and significance of CD44V6 and E-Cd in gallbladder carcinoma. Methods The expression of CD44V6 and E-Cd was detected by immunohistochemical technique in 48 cases of gallbladder carcinoma, 29 cases of gallbladder adenomal polypi and 25 cases of chronic calculous cholecytitis. The association of CD44V6 and E-Cd expression with the clinical and pathologic parameters was analyzed. Results E-Cd expressed in 21 of 48 cases of gallbladder carcinoma(43 75%), 21 of 29 cases of gallbladder adenomal polypi(72 42%) and 24 of 25 cases of chronic calculous cholecytitis(96 00%), while CD44V6 expressed in 31 of 48 cases of gallbladder carcinoma(64 58%), 9 of 29 cases of gallbladder adenomal polypi(31 03%) and 1 of 25 cases of chronic calculous cholecytitis(4 00%). The expression rates of CD44V6 and E-Cd in the three kinds of tissues were significantly different(P