Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Appl Radiat Isot ; 200: 110949, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37582315

RESUMO

Activation and off-line γ-ray spectrometric methods were used to measure the ground and isomeric state (n,2n) reaction cross section for 103Rh at two different neutron energies. The standard 27Al (n,α)24Na reference reaction was used to normalise neutron flux. The proton beam from the 14UD BARC-TIFR Pelletron facility in Mumbai, India, was utilised to create high-energy quasi-monoenergetic neutrons via the 7Li (p,n) reaction. Statistical model calculations including the level density, pre-equilibrium and optical potential model were performed using the TALYS (ver. 1.95) and EMPIRE (ver. 3.2.3) reaction codes. In addition, because of considerable discrepancies in measured data, the literature (n,p) reaction cross section of 52Cr and 48Ti targets were examined theoretically in the present work. The measured cross sections are discussed and compared with the latest evaluated data of the FENDL-3.2b, CENDL-3.2, TENDL-2019, JENDL-5.0, and ENDF/B-VIII.0 libraries, and experimental data based on the EXFOR compilation. The theoretical investigation of the (n,2n) reaction cross section was performed for the ground and isomeric state for the first time from reaction threshold to 25 MeV energies. The experimental data corresponding to the ground, isomeric state and isomeric ratio were reproduced consistently by the theoretical calculations. The present experimental results are good with certain literature data and theoretical values.

2.
J Oral Maxillofac Pathol ; 26(2): 166-172, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35968185

RESUMO

Background: S100 proteins have been implicated in the tumorigenesis of different human cancers and in oral dysplasia, as they are keratinocytes. Materials and Methods: In the present study, we have attempted to compare the expression of S100-A7 within young-onset (age ≤45 years, Group 1) oral squamous cell carcinoma (OSCC), OSCC in older age groups (age >45 years Group 2), oral potentially malignant disorders (OPMDs, Group 3) and inflammatory lesions (Group 4). The tissue sections were scored based on the percentage of immunostained cells and staining intensity. Nuclear, cytoplasmic and membrane immunoreactivity were also scored. Results: The present study comprised 153 histopathologically diagnosed case subjects of OSCC >45 years (n = 41), OSCC <45 years (n = 36), OPMD (n = 40) and inflammatory lesions (n = 36). The present study revealed a statistically significant difference of distribution with regard to S100A7 staining (cytoplasmic and nuclear) between OPMDs and OSCC (P < 0.05). The nuclear, cytoplasmic and membrane staining as well as the staining intensity had significantly different scoring patterns among the OSCC group, OPMD group and the inflammatory lesions with the OSCC group having the highest scoring of the S100A7 staining (irrespective of the age). Conclusions: The present study concludes that S100A7 can be used as a diagnostic biomarker to differentiate between OPMDs and OSCC lesions. However, the marker is unable to distinguish between OSCCs in younger and older patients as the molecular pathogenesis of tumors in either of these age groups is probably similar.

3.
Front Public Health ; 10: 899171, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35692344

RESUMO

Background: Surgical smoke generated through energy devices may present detrimental effects on individuals present in the operating room (OR). Despite the concerns possibly associated with surgical smoke, there may be no mandatory policies that suggest protective measures and limited firm standards are committed yet to address the same. Aim: The aim of this paper is to present recommendations for surgeons and OR personnel by taking a consensus approach based on available literature and its interpretation by a multi-national panel of experts. Methods: The Asia-Pacific (APAC) group was established with the aims of reviewing literature evidence, discussing key issues regarding surgical smoke and its hazards, and offering a summary of statements in achieving a smoke-free OR environment. Eleven expert surgeons from the international APAC region were gathered with the purpose of coming to a consensus on engineering, best work-practices, and administrative controls in minimizing surgical smoke exposure. A two-phase consensus method was used to obtain opinions from the expert panel of specialists. Statements with an agreement of more than 80% were accepted. Findings: For twenty-one statements, the panel achieved consensus on 17 statements; another 5 were dropped due to lack of consensus. The consensus was obtained on statements that address the need for the implementation of administrative policies, training and awareness, standard procedure for the continued use of engineering controls, stringent work practice controls and preventive controls. Conclusion: The statements presented may guide surgeons and OR personnel in the practical management of surgical smoke safety, mitigating the risks associated with it. The consensus statement also provides a series of recommendations that can be used with other stakeholders, such as policymakers, hospital administrators and professional societies, to highlight and motivate the implementation of meaningful policies.


Assuntos
Salas Cirúrgicas , Ásia , Humanos
4.
Appl Radiat Isot ; 184: 110163, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35303629

RESUMO

Degradation of material properties under neutron irradiation generates a requirement for studying effects on materials in a fusion environment and optimizing radiation-resistant materials for future applications. In the present work, the durability of stainless steel (SS) alloy used in ITER-like fusion devices is studied. We have predicted the amount of radionuclides produced in the material upon neutron irradiation at various locations is determined using the ACTYS, neutron activation code, for a typical one-dimensional geometry of ITER-like fusion reactor. The ACTYS code is further used to determine the gas production from 55Fe, 59Ni, and other long-lived radionuclides in the material. To further stress the importance of gas production in fusion materials, a comparative study of gas production cross-sections as given in various standard data libraries is examined using TALYS-1.8 and is presented in the paper.


Assuntos
Radioatividade , Radioisótopos , Ligas , Nêutrons , Aço Inoxidável
5.
Appl Radiat Isot ; 182: 110142, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35176612

RESUMO

The activation cross-sections of 93Nb(n,2n)92Nbm and 88Sr(n,2n)87Srm reactions were measured using the activation and off-line γ-ray spectrometry technique in the neutron energy range 13.97-20.02 MeV. The present measurements have been done at the neutron energies where there are deficiencies and scarcity in the reaction cross-section data. The neutron flux was determined using the 27Al(n,α)24Na monitor reaction. The γ-ray self-attenuation effect and the low energy background neutron corrections were done in this experiment. The results of the present work were compared with the previously published data and evaluated nuclear data libraries. Theoretically, the cross-section for 93Nb(n,2n)92Nbm and 88Sr(n,2n)87Srm reactions was predicted by TALYS-1.9 nuclear code and compared with the present results.

6.
Future Oncol ; 17(27): 3607-3614, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34263662

RESUMO

In cases of ovarian carcinoma, primary cytoreductive surgery (CRS) is the standard treatment up to stage IIIB, but patient selection for neoadjuvant chemotherapy (NACT) in selected cases is controversial. A total of 200 patients with advanced ovarian cancer were analyzed retrospectively, according to specific selection criteria. Primary CRS was performed in 95 patients (47.5%) and interval CRS after 3-6 cycles of NACT was performed in 105 patients (52.5%). After median follow-up of 35 months, 5-year overall survival was 53.7% in the upfront CRS group and 42.2% in the NACT group. Primary CRS is the standard in advanced stages of ovarian carcinoma, but in certain subset of patients, NACT is preferred. Identifying that group is challenging but feasible. Proper selection of patients is key to successful outcomes.


Assuntos
Carcinoma Epitelial do Ovário/tratamento farmacológico , Carcinoma Epitelial do Ovário/cirurgia , Procedimentos Cirúrgicos de Citorredução , Terapia Neoadjuvante , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/cirurgia , Adulto , Idoso , Carcinoma Epitelial do Ovário/patologia , Feminino , Humanos , Índia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Ovarianas/patologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
7.
Appl Radiat Isot ; 174: 109739, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33930724

RESUMO

For the hafnium element, the cross sections of 179Hf(γ,γ')179mHf and natHf(γ,x)179mHf reactions were measured at 8 MeV and 15 MeV bremsstrahlung end point energies respectively using activation method and off-line gamma-ray spectroscopy. The bremsstrahlung radiation spectra were generated by bombarding a 0.1 mm tungsten target with 8 MeV and 15 MeV electrons at 5 µA beam current and also theoretically simulated by GEANT4 computer code. The flux weighted average cross sections of 179Hf (γ,γ')179mHf and natHf(γ,x)179mHf reactions were measured by using 115In(γ,γ')115mIn and 197Au(γ,n)196Au as flux monitor reactions at 8 MeV and 15 MeV bremsstrahlung radiation respectively. The measured cross sections are found close to the corresponding theoretical cross sections estimated by TALYS 1.95 and TENDL 2019 computer codes. These hafnium cross sections at 8 MeV and 15 MeV bremsstrahlung radiation will be new additions to the EXFOR library, as so far not reported in literature.

8.
Natl Med J India ; 33(5): 271-275, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-34213452

RESUMO

Background: . Tumours of the eyelid are a rare subgroup of neoplasms with varied histology and inherent differences in clinical behaviour. Surgery is the standard of care, and adjuvant radiation therapy (RT) is given in the presence of features suggesting a high risk of local recurrence. The treatment of lymph nodes in the neck is debatable. We reviewed the utility of RT for lymph nodes in the neck in patients with malignant tumours of the eyelid. Methods: . We reviewed medical records of all patients with tumours of the eyelid treated at our centre from July 2006 to December 2014 for their demographic, clinical profile, treatment details and outcome. Results: . The records of 37 patients were included for analysis, of these 34 underwent surgery and 21 received adjuvant RT. Their median age was 60 (range 30-85) years. Sebaceous cell carcinoma was the most common (50.4%). The median disease-free survival (DFS) was 35 months (95% CI 17.9-52.0). The 1- and 3-year DFS were 82.7% and 45%, respectively. Univariate analysis showed a superior outcome with early stage (T1) tumours (p=0.01), RT dose of ≥60 Gy and those underwent lymph node dissection (p=0.03). The presence of high-risk factors including close or positive margin had an inferior outcome with a trend towards statistical significance (p=0.06). Conclusion: . We found a favourable outcome with early T stage, RT dose of ≥60 Gy and lymph node dissection. High-risk histopathological features including close margins and positive lymph nodes merit adjuvant RT including regional lymph nodes.


Assuntos
Neoplasias Palpebrais , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Neoplasias Palpebrais/epidemiologia , Neoplasias Palpebrais/radioterapia , Neoplasias Palpebrais/cirurgia , Humanos , Excisão de Linfonodo , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/radioterapia , Radioterapia Adjuvante , Estudos Retrospectivos
9.
Appl Radiat Isot ; 154: 108866, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31445493

RESUMO

The cross-sections for 86Sr (n, 2n)85Sr reaction are measured at neutron energies 19.44 ±â€¯1.02 MeV and 16.81 ±â€¯0.85 MeV wherein there is scarcity of data. The standard neutron activation analysis technique and offline gamma ray spectroscopy have been employed for measurement and analysis of the data. The results are compared with experimental data available in EXFOR database, JEFF-3.3, JENDL-4.0, TENDL-2017 and ENDF/B-VIII.0 evaluated data. The theoretical prediction was incorporated using nuclear modular codes TALYS 1.8 and EMPIRE 3.2.2. A detailed comparative study of experimental results with the theoretical models and various major evaluations has been presented.

10.
J Fluoresc ; 29(4): 1007-1012, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31292811

RESUMO

Polystyrene polymer (PS)/Al2O3 nanocomposite films were synthesized from PS:Al2O3 (1-x):x mixtures (x = 3 wt%) via solution casting method. These nanocomposite films were exposed to 5 MeV proton beam of different fluences. The proton beam induced changes in optical and luminescence properties of PS and PS:Al2O3 films have been investigated using FTIR, UV-visible, Photoluminescence and thermoluminescence studies. FTIR studies concede reduction in the peak intensity due to doping of Al2O3 and proton irradiation. The UV-visible spectra show shifting of absorption edge with increasing fluence. This can be attributed to creation of conjugated system of bonds. The band gap of PS and 3 wt% Al2O3 doped PS is observed to be 4.38 eV and 4.34 eV, respectively, whereas the band gaps of proton irradiated 3 wt% Al2O3 doped PS films are found to be 4.28 eV and 4.23 eV at the fluences of 1 × 1012 ions/cm2 and 1 × 1013 ions/cm2, respectively. The photoluminescence emission spectra show three peaks, wavelength at 411 nm, 435 nm and 462 nm corresponding to the PS in violet-blue region when excited with near UV wavelength of 380 nm. The intensity of emission peaks was found to increase with increasing fluence. The thermoluminescence curves of PS/Al2O3 were analysed using glow curve deconvolution method (GCD). The increase in TL peak intensity of the glow curve was observed as fluence increase.

11.
Appl Radiat Isot ; 143: 72-78, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30390503

RESUMO

The neutron capture cross sections of 232Th and 238U at the average neutron energies of 5.08 ±â€¯0.17, 8.96 ±â€¯0.77, 12.47 ±â€¯0.83, and 16.63 ±â€¯0.95 MeV have been measured by using the activation technique and off-line γ-ray spectroscopy. The 232Th and 238U were irradiated with neutrons produced from the 7Li(p, n) reaction using the proton energies of 7, 11, 15 and 18.8 MeV from the 14UD BARC-TIFR Pelletron facility in Mumbai, India. Detailed covariance analysis was also performed to evaluate the uncertainties in the measured cross-sections. The excitation function of the 232Th(n, γ) and 238U(n, γ) reactions were calculated using the theoretical model code TALYS-1.9. The experimental and theoretical results from the present work were compared with the ENDF/B-VII-1 and JENDL-4.0 nuclear data libraries and were found to be in good agreement.

12.
Curr Probl Cancer ; 43(5): 438-442, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30559028

RESUMO

Alteration of biomarkers is well-documented in breast cancer at locoregional recurrence or metastasis attributed to tumor heterogeneity and change in biology. There is a lack of literature on alteration of biomarkers in metastatic breast cancer (MBC) at progression. We included 32 patients of upfront MBC. Estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2/neu documented at baseline and at progression. Median age was 46 (range 26-72) years. Estrogen receptor altered in 6 (18.75%) patients [4 (12.5%) positive to negative and 2 (6.25%) from negative to positive], progesterone receptor altered in 8 (25.3%) patients (6 [18.75%] positive to negative and 2 [6.25%] negative to positive) and human epidermal growth factor receptor 2/neu altered in 5 (15.6%) patients (all were positive to negative). Therapy was changed as per new receptor status. Documentation of change in receptor status may be justified to determine further therapy and prognosis in MBC at progression.


Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/diagnóstico , Tomada de Decisão Clínica/métodos , Reoperação/estatística & dados numéricos , Adulto , Idoso , Biomarcadores Tumorais/análise , Biópsia/estatística & dados numéricos , Mama/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/terapia , Carcinoma Ductal de Mama/secundário , Carcinoma Ductal de Mama/terapia , Progressão da Doença , Feminino , Humanos , Mastectomia , Pessoa de Meia-Idade , Prognóstico , Receptor ErbB-2/análise , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/análise , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/análise , Receptores de Progesterona/metabolismo , Estudos Retrospectivos
13.
Appl Radiat Isot ; 141: 10-14, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30144772

RESUMO

The neutron capture cross-sections have been measured for the 159Tb(n, γ)160Tb reaction at the spectrum average peak neutron energies of 5.08 ±â€¯0.165, 12.47 ±â€¯0.825, and 16.63 ±â€¯0.95 MeV respectively. The experiment has been carried out using the standard neutron activation technique and off-line γ-ray spectrometry. The present measurement has been done for the energies where very few measured results are available in the data library. The results have been compared with ENDF/B-VII.1 and JENDL-4.0 data libraries. The present results have also been supported by theoretical predictions of nuclear model code TALYS 1.9. Detailed covariance analysis was carried out to find the uncertainty and the correlations among the measured cross-sections.

14.
J Egypt Natl Canc Inst ; 29(3): 167-170, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28844593

RESUMO

OBJECTIVE: Alveolar soft part sarcoma (ASPS) is an aggressive, rare tumour with unique morphological and histopathological features. METHODS: We report a rare case of orbital ASPS and its management in a young male who presented with painless proptosis and progressive loss of vision. RESULT: Twenty-two year male presented with a history of gradually increasing proptosis with loss of vision since 12months. He underwent radical re-excision of mass with right orbital exenteration and reconstruction using temporalis muscle flap. Adjuvant radiotherapy to a dose of 64Gy in 32 fractions over 6.5weeks was planned in view of positive surgical margins. Patient is free of disease and currently under follow up in multidisciplinary clinic. CONCLUSION: Function preserving surgery remains the standard treatment approach in localised disease however the complex anatomy and locally aggressive nature makes it difficult to achieve clear surgical margin. Adjuvant radiotherapy has shown to improve local control in patients with positive surgical margins.


Assuntos
Neoplasias Orbitárias/diagnóstico , Sarcoma Alveolar de Partes Moles/diagnóstico , Terapia Combinada , Diagnóstico Diferencial , Exoftalmia/patologia , Seguimentos , Humanos , Aumento da Imagem , Masculino , Estadiamento de Neoplasias , Neoplasias Orbitárias/terapia , Sarcoma Alveolar de Partes Moles/terapia , Avaliação de Sintomas , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Adulto Jovem
15.
Springerplus ; 4: 265, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26090312

RESUMO

The aim of our study was to look for alternative predictive biomarkers for breast cancer management in limited resource setup. A comprehensive analysis of circulating cell-free DNA (CCFD) in serum at baseline was performed to assess its prognostic potential. Quantitative polymerase chain reaction (qPCR) of ALU sequences using ALU115 and ALU247 primers was carried out in patients (N: baseline 148, postoperative 47) and 51 healthy controls. Mean serum DNA integrity, levels of ALU 247 and levels of ALU 115 were significantly higher in patients than in healthy females. No significant differences were observed in the levels ALU 247 and ALU 115 between stage IV and earlier stages of the disease. The DNA integrity was significantly higher in stage IV than earlier stages. A significant decrease in DNA integrity was observed after surgery (pre: 0.55 ± 0.23 vs post: 0.43 ± 0.30; P = 0.002) while no such change could be observed for ALU 247 and ALU 115. Baseline DNA integrity was significantly higher in relapsed patients than in patients who were free of disease (P = 0.005). Higher baseline DNA integrity was also indicated, though statistically not significant, in patients who died (P = 0.14). In contrast, ALU 247 and ALU 115 levels were decreased in died patients as compared to survivors (24.8 ± 34.80 vs 73.5 ± 170.83, P = 0.02 for ALU 247 and 41.0 ± 47.99 vs 159.5 ± 299.54, P = 0.005 for ALU 115). Baseline levels of ALU 115 and ALU 247 were lower in relapsed patients, though statistically not significant. In univariate analysis, the only clinic-pathological parameter associated with disease prognosis was tumor size. The hazards of 5-year overall mortality was 3.60 (95 % CI: 1.03 12.53, P = 0.03) among patients with lower baseline serum levels of CCFD (ALU 247 < 21 and ALU 115 < 41). Similarly the 4 year hazards for recurrence was 2.30 (95 % CI: 0.96 5.52, P = 0.05) among patients with higher DNA integrity. Baseline serum levels of CCFD and its integrity were found to be potential prognostic biomarkers in patients of primary breast cancer at our centre.

16.
J Cancer Res Ther ; 10(3): 535-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25313734

RESUMO

BACKGROUND: Thirty to 40% of all extra thoracic cancers lead to secondary pulmonary lesions and approximately 20% of these cases feature metastases that are confined to the lungs. There is benefit of pulmonary metastasectomy in a select subset of patients. AIMS: The goal of this study was to evaluate the patient profile, treatment patterns, and outcomes following surgical treatment of lung metastasis and to identify prognostic factors for long-term survival. MATERIALS AND METHODS: Retrospective analysis of a prospectively maintained computerized database at a tertiary cancer care centre was done. 36 patients underwent curative resection for isolated pulmonary metastasis from January 1999 to December 2009. All metastasis were detected by non-contrast CT scan of the chest. Lung function tests were performed in all patients. Posterolateral thoracotomy was performed for resection of pulmonary metastasis by lung sparing procedures. A routine protocol of complete resection of all visible and palpable lung metastasis with a margin of 0.5 to 10 mm was followed in all patients. Staged thoracotomy was done for bilateral metastases. All palpable nodules were resected by wedge resection except in one case where pneumonectomy was done to achieve R0 resection. All patients underwent complete resection. CONCLUSIONS: Disease-free interval of more than 1 year along with less than 2 malignant nodules in patients with non-visceral pulmonary metastasis are variables identified in the present study which have enabled pulmonary metastasectomy to be offered as a safe therapeutic lifeline to patients.


Assuntos
Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/cirurgia , Metastasectomia , Adulto , Institutos de Câncer , Feminino , Seguimentos , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/mortalidade , Masculino , Metastasectomia/efeitos adversos , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Estudos Retrospectivos , Centros de Atenção Terciária , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
17.
Hum Mutat ; 23(2): 205, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14722926

RESUMO

The two major hereditary breast/ovarian cancer predisposition tumor suppressor genes, BRCA1 and BRCA2 that perform apparently generic cellular functions nonetheless cause tissue-specific syndromes in the human population when they are altered, or mutated in the germline. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast and/or ovarian cancers in the Indian population. We have screened for mutations the entire BRCA1 and BRCA2 coding sequences, and intron-exon boundaries, as well as their flanking intronic regions in sixteen breast or breast and ovarian cancer families of Indian origin. We have also analyzed 20 female patients with sporadic breast cancer regardless of age and family history, and 69 unrelated normal individuals as control. Thus a total of 154 samples were screened for BRCA1 and BRCA2 mutations using a combination of polymerase chain reaction-mediated site directed mutagenesis (PSM), polymerase chain reaction-single stranded conformation polymorphism assay (PCR-SSCP) and direct DNA sequencing of PCR products (DS). Twenty-one sequence variants including fifteen point mutations were identified. Five deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 2 (c.187_188delAG); and exon 11 (c.3672G>T) [p.Glu1185X] of BRCA1 and in exon 11 (c.5227dupT, c.5242dupT, c.6180dupA) of BRCA2 (putative mutations - four novel) as well as fourteen amino acid substitutions were identified. Twelve BRCA1 and BRCA2 missense variants were identified as unique and novel. In the cohort of 20 sporadic female patients no mutations were found.


Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa/genética , Neoplasias Ovarianas/genética , Adulto , Idoso , Processamento Alternativo/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Códon sem Sentido/genética , Feminino , Mutação da Fase de Leitura , Testes Genéticos , Humanos , Índia , Pessoa de Meia-Idade
18.
Hum Mutat ; 21(1): 98-9, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12497638

RESUMO

Germline mutation analysis of BRCA1 gene has demonstrated significant allelic heterogeneity. These differences represent historical influences of migration, population structure and geographic or cultural isolation. To date, there have been no reports of Indian families with mutations in BRCA1. We have screened for mutations in selected coding exons of BRCA1 and their flanking intron regions in three breast or breast and ovarian cancer families with family history of three or more cases of breast cancer under age 45 and/or ovarian cancer at any age. We have also analyzed 10 female patients with sporadic breast cancer regardless of age and family history, as well as 50 unrelated normal individuals as controls. Thus a total of 90 samples were analyzed for BRCA1 mutations using polymerase chain reaction-mediated site directed mutagenesis (PSM) and single stranded conformation polymorphism (SSCP) analysis for various selected exons followed by sequencing of variant bands. Eight point mutations were identified. Two deleterious pathogenic, protein truncating non-sense mutations were detected in exon 11 (E1250X) and exon 20 (E1754X) and six novel and unique amino acid substitutions (F1734S, D1739Y, V1741G, Q1747H, P1749A, R1753K). One complex missense mutation of exon 20 [V1741G; P1749A] was seen in two out of three families and another complex combination of missense and non-sense mutations of the same exon [V1741G; E1754X] was observed in only one family. These complex mutations exist only in breast cancer families but not in control populations of women. Three splice site variants (IVS20+3A>C, IVS20+4A>T, IVS20+5A>T) and two intronic variants (IVS20+21_22insG, IVS20+21T>G) were also detected. In the group of 10 sporadic female patients no mutations were found.


Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Mutação em Linhagem Germinativa , Adulto , Análise Mutacional de DNA , Feminino , Frequência do Gene , Humanos , Índia , Pessoa de Meia-Idade , Dados de Sequência Molecular , Neoplasias Ovarianas/genética , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA