OBJECTIVETo evaluate the clinical value of mutated p53 in the peripheral blood of breast cancer patients.

METHODSPlasma DNA of 126 breast cancer patients and 92 healthy women was examined. DNA extraction from the tumor and tissue samples was performed by a nonorganic method. Plasma DNA was purified on Qiagen columns. PCR-SSCP analysis was performed to examine the point mutations in the conserved exons 5, 6, 7 and 8 of TP53.

RESULTSThe mean concentration of plasma DNA was 21 ng/ml in healthy women and 211 ng/ml in patients with breast cancer (P < 0.01). p53 mutations in the primary tumor were detected in 46 of 126 (36.5%) breast cancer patients. Of these 46 patients, 30 (65.1%) were also found to have p53 mutations in their plasma DNA. p53 mutation in plasma DNA was closely correlated with clinical stage, tumor size, lymph node (LN) metastasis and estrogen receptor status (P < 0.05). Survival of the patients with both primary tumor and plasma p53 mutations was the worst. Thirteen of the 22 (59.0%) patients with recurrence and/or metastasis had detectable p53 mutations in their plasma DNA.

CONCLUSIONp53 mutations in plasma DNA may be a useful prognostic factor and an early marker of recurrence or distant metastasis in breast cancer.

Adult ; Aged ; Breast Neoplasms ; genetics ; mortality ; Carcinoembryonic Antigen ; blood ; DNA ; blood ; Female ; Humans ; Middle Aged ; Mucin-1 ; blood ; Mutation ; Prognosis ; Tumor Suppressor Protein p53 ; genetics

OBJECTIVETo evaluate the available surgical treatment modalities so as to explore the optimal strategy of managing early breast cancer.

METHODSThe clinical data of 2173 consecutive early-stage breast cancer patients treated by surgery treatments were retrospectively reviewed in order to clarify the indications and contraindications of different modalities. Therapeutic outcome of different surgical treatment modes were compared in terms of recurrence-free survival ( RFS) , disease-free survival ( DFS) , overall survival (OS). The cosmetic results of breast conservation and reconstruction were also evaluated .

RESULTSThe median age of these patients was 51 years ranging from 18 to 91. Of 2173 patients, 547 had stage 0- I lesions and 1626 stage II , and 1155 (53. 2% ) premenopausal. The proportion of patients who received radical surgery, breast conservation and reconstruction after mastectomy was 83. 6% (1817/2173), 10. 5% (229/2173) and 2. 5% (55/2173) , respectively. Younger and premenopausal patients prefer conservative and reconstructive surgeries, which are reasonable for stage 0-I and non-invasive breast cancer patients. Conservative surgery was not suitable for Paget's disease of breast (P = 0. 004) , mastectomy followed by reconstruction in this type of cancer was up to 38. 5%. The recurrence and metastasis rate of conservation or mastectomy were similar with a comparable 3-year RFS of 97. 4% and 95. 4% , respectively; there were also no significant differences in RFS(P =0. 2435) , DFS( P =0. 1395) and OS(P =0. 9406) after having been followed for 3 to 64 months. Similarly, immediate reconstruction did not show any negative effects with only 1 recurrence and 1 metastasis. Aesthetic outcomes were assessed as excellent or good in 90. 0% of breast conservation surgery, and the acceptability of reconstruction was 94. 5%.

CONCLUSIONBreast conserving surgery not only has comparable survival as mastectomy, but also has better cosmetic outcomes. Immediate breast reconstruction can be a suitable option without compromising survival. It is very important in the management for early breast cancer by selecting the most suitable surgery mode for every individual patient not only to cure her disease but also to satisfy the patient psychologically. Conservation should be preferred prior to reconstruction whenever possible.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms ; pathology ; surgery ; Carcinoma, Ductal, Breast ; pathology ; surgery ; Carcinoma, Intraductal, Noninfiltrating ; pathology ; surgery ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Lymphatic Metastasis ; Mastectomy ; methods ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Paget's Disease, Mammary ; pathology ; surgery ; Reconstructive Surgical Procedures ; Retrospective Studies

Adult ; Antiviral Agents ; therapeutic use ; Female ; Hepatitis C, Chronic ; drug therapy ; Humans ; Interferon-alpha ; therapeutic use ; Male ; Polyethylene Glycols ; therapeutic use ; Recombinant Proteins

To investigate the Fe2+ effects on root tips in rice plant, experiments were carried out using border cells in vitro. The border cells were pre-planted in aeroponic culture and detached from root tips. Most border cells have a long elliptical shape. The number and the viability of border cells in situ reached the maxima of 1600 and 97.5%, respectively, at 20-25 mm root length. This mortality was more pronounced at the first 1-12 h exposure to 250 mg/L Fe2+ than at the last 12-36 h. After 36 h, the cell viability exposed to 250 mg/L Fe2+ decreased to nought, whereas it was 46.5% at 0 mg/L Fe2+. Increased Fe2+ dosage stimulated the death of detached border cells from rice cultivars. After 4 h Fe2+ treatment, the cell viabilities were > or =80% at 0 and 50 mg/L Fe2+ treatment and were <62% at 150, 250 and 350 mg/L Fe2+ treatment; The viability of border cells decreased by 10% when the Fe2+ concentration increased by 100 mg/L. After 24 h Fe2+ treatment, the viabilities of border cells at all the Fe2+ levels were <65%; The viability of border cells decreased by 20% when the Fe2+ concentration increased by 100 mg/L. The decreased viabilities of border cells indicated that Fe2+ dosage and treatment time would cause deadly effect on the border cells. The increased cell death could protect the root tips from toxic harm. Therefore, it may protect root from the damage caused by harmful iron toxicity.
Iron ; toxicity ; Oryza ; cytology ; drug effects ; growth & development ; Plant Roots ; cytology ; drug effects ; growth & development ; Seedlings ; cytology ; drug effects ; growth & development

OBJECTIVETo provide scientific basis for the utilization and development of Valeriana jatamansi by setting up the quality control specification of V. jatamansi.

METHODThe pharmacognostical methods were applied. The extract of V. jatamansi was examined. Moisture and ash were determined. And the bioactive constituents were analyzed by TLC and HPLC.

RESULTThe morphological and histological characters of V. jatamansi were observed. Content of total ash, acid-insoluble ash, and moisture of 15 samples from different habitats and times were determined. The qualitative and quantitative analysis of valtrate and acevaltrate by TLC and HPLC were preformed respectively.

CONCLUSIONThe established method can be used for the quality control of V. jatamans.

Chromatography, High Pressure Liquid ; Chromatography, Thin Layer ; Iridoids ; analysis ; Pharmacognosy ; standards ; Plant Roots ; anatomy & histology ; chemistry ; Plants, Medicinal ; anatomy & histology ; chemistry ; Quality Control ; Rhizome ; anatomy & histology ; chemistry ; Valerian ; anatomy & histology ; chemistry

OBJECTIVETo investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment.

METHODSAudiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing.

RESULTSDirect sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss.

CONCLUSIONThe GJB2 mutations may be an aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.

Adolescent ; Adult ; Alleles ; Base Sequence ; Child ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Female ; Genotype ; Hearing Loss ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide

OBJECTIVETo evaluate the oncologic safety, indications and aesthetic results for skin-sparing mastectomy (SSM) and immediate breast reconstruction (IBR).

METHODOne hundred and twenty-nine breast cancer patients treated by SSM + IBR from October 1999 to May 2007 were reviewed. Reconstructive techniques included latissimus dorsi flaps (38 patients), implants only (2 patients), latissimus dorsi flaps plus implants (61 patients), pedicled transverse rectus abdominis myocutaneous (TRAM) flaps (25 patients) and deep inferior epigastric artery perforator (DIEP) flaps (3 patients). Aesthetic results were judged by patients' self-evaluation.

RESULTSMean duration of hospitalization was 18.6 days. Time of first chemotherapy was 5.2 days after operation. Eleven patients (11/63, 17.5%) developed capsular contracture and 24 patients (24/99, 24.2%) developed seroma in the donor site. Nine patients (9/28, 32.1%) developed partial fat necrosis in TRAM and DIEP flaps. The satisfaction with the aesthetic results of the reconstructive breast was significantly lower in irradiated patients than non-irradiated ones. Median follow-up time was 11 months. Five patients developed local recurrence and 7 patients with metastasis.

CONCLUSIONSSSM with IBR can be used for the 0 to II a stage breast cancer patients, with surgical oncologic and aesthetic satisfaction. Radiotherapy has an adverse effect on the reconstructive breast. Delayed or delayed-immediate reconstructions are recommended for patients indicated to postoperative radiotherapy.

Adult ; Breast Neoplasms ; surgery ; Female ; Follow-Up Studies ; Humans ; Mammaplasty ; methods ; Mastectomy, Subcutaneous ; Middle Aged ; Retrospective Studies ; Surgical Flaps ; Treatment Outcome

OBJECTIVETo investigate the prevalence of CHEK2 c.1100delC mutation among non-BRCA1/BRCA2 familial/early-onset breast cancer patients in Shanghai.

METHODSOne hundred and fourteen non-BRCA1/BRCA2 hereditary breast cancer patients were analyzed, among whom 76 cases had at least one first-degree relative affected with breast cancer and 38 cases were diagnosed as breast cancer below the age of 40 years without family history. The mutation genotyping of CHEK2 c.1100delC were carried out through long-range PCR amplifying of exons 10-14, and followed by amplification of exon 10 and then DNA direct sequencing.

RESULTSNo c.1100delC frame-shift mutation was identified in our studied population. One novel missense mutation 1111C>T (p.His371Tyr), located in kinase catalytic domain, was found in 3 familial breast cancer cases but no one in control group.

CONCLUSIONCHEK2 c.1100delC is rare variant for Chinese population and may not contribute to predisposition for hereditary breast cancer in Shanghai. Novel variant -1111C>T could be in association with genetic susceptibility to breast cancer. A further study is needed to confirm the results.

Adult ; Aged ; Apoptosis Regulatory Proteins ; Asian Continental Ancestry Group ; genetics ; BRCA1 Protein ; genetics ; BRCA2 Protein ; genetics ; Base Sequence ; Breast Neoplasms ; ethnology ; genetics ; Checkpoint Kinase 2 ; China ; DNA Mutational Analysis ; Female ; Frameshift Mutation ; Genetic Predisposition to Disease ; genetics ; Humans ; Middle Aged ; Mutation, Missense ; Protein-Serine-Threonine Kinases ; genetics ; Sequence Deletion ; Young Adult

OBJECTIVEAromatase, encoded by CYP19A1, play an important role in estrogens biosynthesis from androgens. The present study is to investigate effect of R264C single nucleotide polymorphism in CYP19A1 gene on genetic susceptibility for hereditary breast cancer without BRCA1/2 mutant.

METHODSOne hundred and fourteen BRCA1/2 -negative hereditary breast cancer patients from independent families and 121 age-matched healthy control subjects were analyzed. Genotype analysis was performed through polymerase chain reaction (PCR) and then DNA direct sequencing. The odd-ratios (OR) and 95% confidence intervals (CI) were calculated by unconditional Logistic regression model.

RESULTSThe frequency of R264C single nucleotide polymorphism CC, CT and TT genotype in case group and controls was 84(77.8%), 22(20.4%), 2(1.8%) and 87(77.7%), 24(21.4%), 1(0.9%), respectively. CT genotype (OR=1.16, 95%CI: 0.53-2.55) and TT genotype (OR=1.44, 95%CI: 0.12-17.15) did not confer a significantly increased risk for breast cancer. No significant association was found between T allele and susceptibility for breast cancer under analysis according to menopausal status and body mass index.

CONCLUSIONR264C polymorphism in CYP19A1 gene is not a candidate locus for low penetrance breast cancer susceptibility in Shanghai group of Chinese population and not recommended in clinical genetic test. Homozygous T allele of R264C is not common in Shanghai group of Chinese population.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; BRCA1 Protein ; genetics ; BRCA2 Protein ; genetics ; Base Sequence ; Breast Neoplasms ; genetics ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Molecular Sequence Data ; Mutation ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Steroid 17-alpha-Hydroxylase ; genetics ; Young Adult

OBJECTIVETo investigate the prevalence of BRCA1 and BRCA2 gene mutations among breast cancer patients with affected relatives in Shanghai of China.

METHODSThirty-five breast cancer patients who had at least one first-degree relative affected were analyzed, among whom 13 patients suffered from breast cancer at age of less than 40 years. A comprehensive BRCA1 and BRCA2 mutation analysis was performed through denaturing high-performance liquid chromatography (DHPLC) and subsequent DNA direct sequencing.

RESULTSFour mutations in BRCA1 gene, including 2 novel splice-site mutations (IVS17-1G>T, IVS21+1G>C) and 2 frameshift mutations (1100delAT; 5640delA) were identified. One frameshift mutation (5802delAATT) was detected in exon 11 of BRCA2. Additional 12 novel single nucleotide polymorphisms(SNPs) were detected, including a novel unclassified variant and 7 novel intronic variants in BRCA1, and 4 novel intronic variants in BRCA2, with which all caused no alteration of amino acid coding. The mutation frequency of BRCA1 and BRCA2 in patients with family history was 11.4% and 2.9%, respectively.

CONCLUSIONTwo novel mutations in BRCA1 may be mutations characterized to familial breast cancer of Chinese Shanghai population. The BRCA2 may contribute to mutation less than BRCA1 in familial breast cancer. Our data contribute to information on mutation spectrum of BRCA gene in Chinese population and also offer a recommended screening mode for clinical genetic testing policy in China.

Asian Continental Ancestry Group ; genetics ; BRCA1 Protein ; genetics ; BRCA2 Protein ; genetics ; Breast Neoplasms ; genetics ; China ; DNA, Neoplasm ; analysis ; Family Health ; Female ; Humans ; Point Mutation ; Polymorphism, Single Nucleotide