يعرض 1 - 10 نتائج من 26 نتيجة بحث عن '"Shah, M.T."', وقت الاستعلام: 0.79s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المصدر: Cancers

    الوصف: Simple Summary Mutations in the FANCM gene may cause a particular type of breast cancer known as ER-negative. In this study, we describe the geographic distribution of 66 different FANCM mutations identified in 44,803 female breast cancer cases from Europe, USA, Canada and Australia. We found that the FANCM:p.Gln1701* mutation is most common in Northern Europe and has lower frequencies in Southern European countries. In contrast, the FANCM:p.Gly1906Alafs*12 mutation is most common in Southern Europe and rarer in Central and Northern Europe. We found that the FANCM:p.Arg658* mutation is most prevalent in Central Europe and that the FANCM:p.Gln498Thrfs*7 mutation originates from Lithuania. Finally, we showed that many and varied FANCM mutations are present in Southwestern and Central Europeans while a much more limited range of mutations is present in Northeastern Europeans. The knowledge of this geographic distribution of FANCM mutations is important to establish more efficient genetic testing strategies in specific populations. FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous ...

    وصف الملف: application/pdf

  2. 2
    دورية أكاديمية

    المؤلفون: Morra, A., Schreurs, M.A.C., Andrulis, I.L., Anton-Culver, H., Augustinsson, A., Beckmann, M.W., Behrens, S., Bojesen, S.E., Bolla, M.K., Brauch, H., Broeks, A., Buys, S.S., Camp, N.J., Castelao, J.E., Cessna, M., Chang-Claude, J., Chung, W.K., Colonna, S., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Dennis, J., Devilee, P., Dörk, T., Dunning, A.M., Dwek, M., Easton, D.F., Eccles, D.M., Eriksson, M., Evans, D.G., Fasching, P.A., Fehm, T.N., Figueroa, J.D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., García-Sáenz, J.A., Genkinger, J., Grassmann, F., Gündert, M., Hahnen, E., Haiman, C.A., Hamann, U., Harrington, P.A., Hartikainen, J.M., Hoppe, R., Hopper, J.L., Houlston, R.S., Howell, A., Jakubowska, A., Janni, W.G., Jernstroem, H., John, E.M., Johnson, N., Jones, M.E., Kristensen, V.N., Kurian, A.W., Lambrechts, D., Marchand, L. le, Lindblom, A., Lubinski, J., Lux, M.P., Mannermaa, A., Mavroudis, D., Mulligan, A.M., Muranen, T.A., Nevanlinna, H., Nevelsteen, I., Neven, P., Newman, W.G., Obi, N., Offit, K., Olshan, A.F., Park-Simon, T.W., Patel, A., Peterlongo, P., Phillips, K.A., Plaseska-Karanfilska, D., Polley, E.C., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rashid, M.U., Rhenius, V., Robson, M., Romero, A., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schuetze, S., Scott, C., Shah, M.T., Smichkoska, S., Southey, M.C., Tapper, W.J., Teras, L.R., Tollenaar, R.A.E.M., Tomczyk, K., Tomlinson, I., Troester, M.A., Vachon, C.M., Veen, E.M. van, Wang, Q., Wendt, C., Wildiers, H., Winqvist, R., Ziogas, A., Hall, P., Pharoah, P.D.P., Adank, M.A., Hollestelle, A., Schmidt, M.K., Hooning, M.J., Nbcs Collaborators, Abctb Investigators, KConFab Investigators

    المصدر: Cancer Medicine

    الوصف: Background: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers.Aim: To assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS.Methods: Analyses were based on 82,701 women diagnosed with a first primary invasive BC including 963 CHEK2 c.1100delC carriers; median follow-up was 9.1 years. Differential associations with treatment by CHEK2 c.1100delC status were tested by including interaction terms in a multivariable Cox regression model. A multi-state model was used for further insight into the relation between CHEK2 c.1100delC status, treatment, CBC risk and death. Results: There was no evidence for differential associations of therapy with CBC risk by CHEK2 c.1100delC status. The strongest association with reduced CBC risk was observed for the combination of chemotherapy and endocrine therapy [HR (95% CI): 0.66 (0.55-0.78)]. No association was observed with radiotherapy.Results from the multi-state model showed shorter BCSS for CHEK2 c.1100delC carriers versus non-carriers also after accounting for CBC occurrence [HR (95% CI): 1.30 (1.09-1.56)].Conclusion: Systemic therapy was associated with reduced CBC risk irrespective of CHEK2 c.1100delC status. Moreover, CHEK2 c.1100delC carriers had shorter BCSS, which appears not to be fully explained by their CBC risk. ; Surgical oncology

    وصف الملف: application/pdf

    العلاقة: lumc-id: 186077322; https://hdl.handle.net/1887/3722139Test

  3. 3

    المؤلفون: Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators

    المساهمون: Clinical Genetics, Medical Oncology, Apollo - University of Cambridge Repository, Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), University of Helsinki, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Wellcome Trust, WT: 633784, v203477/Z/16/Z, Horizon 2020 Framework Programme, H2020, Cancer Research UK, CRUK: C1287/A16563, The sequencing and analysis for this project was funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935) and the Wellcome Trust [grant no: v203477/Z/16/Z]. BCAC co-ordination was additionally funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935, BCAST: grant number 633784) and by Cancer Research UK [C1287/A16563]. Study specific funding is given in the Additional Note., HAL UVSQ, Équipe

    المصدر: Genome Medicine, 14(1). BMC
    Genome Medicine, 14(1):51. BioMed Central Ltd.
    Dorling, L, Carvalho, S, Allen, J, Parsons, M T, Fortuno, C, González-Neira, A, Heijl, S M, Adank, M A, Ahearn, T U, Andrulis, I L, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bremer, M, Briceno, I, Camp, N J, Campbell, A, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Collée, J M, Czene, K, Dennis, J, Dörk, T, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, E F, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, S-W, Ko, Y-D, Kristensen, V N, Lakeman, I M M, Li, J, Lindblom, A, Loizidou, M A, Lophatananon, A, Lubiński, J, Luccarini, C, Madsen, M J, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, R L, Taib, N A M, Muir, K, Nevanlinna, H, Newman, W G, Oosterwijk, J C, Park, S K, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Sim, X, Southey, M C, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, C J, Waltes, R, Wang, Q, Yang, X R, Pharoah, P D P, Schmidt, M K, Benitez, J, Vroling, B, Dunning, A M, Teo, S H, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, A B, Vreeswijk, M P G & Easton, D F 2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, 51 . https://doi.org/10.1186/s13073-022-01052-8Test
    Genome Med. 14:51 (2022)
    Genome medicine, 14:51. BMC
    2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, no. 1, 51, pp. 51 . https://doi.org/10.1186/s13073-022-01052-8Test
    Genome Medicine
    Genome Medicine, 2022, 14 (1), pp.51. ⟨10.1186/s13073-022-01052-8⟩

    الوصف: Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. Results The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1, and BRCA2, data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47–2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best fitting models were well calibrated in the validation set. Conclusions These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility.

    وصف الملف: application/pdf; text/xml; application/zip

  4. 4
    دورية أكاديمية

    المساهمون: Nirma University, Gujarat State Biotechnology Mission

    المصدر: Letters in Applied Microbiology ; volume 75, issue 4, page 785-795 ; ISSN 1472-765X 0266-8254

    مصطلحات موضوعية: Applied Microbiology and Biotechnology

    الوصف: Microbial fuel cell (MFC) is an emerging technology which has been immensely investigated for wastewater treatment along with electricity generation. In the present study, the treatment efficiency of MFC was investigated for hydrocarbon containing wastewater by optimizing various parameters of MFC. Mediator-less MFC (1·2 l) was constructed, and its performance was compared with mediated MFC with Escherichia coli as a biocatalyst. MFC with electrode having biofilm proved to be better compared with MFC inoculated with suspended cells. Analysis of increasing surface area of electrode by increasing their numbers indicated increase in COD reduction from 55 to 75%. Catholyte volume was optimized to be 750 ml. Sodium benzoate (0·721 g l–1) and actual common effluent treatment plant (CETP) wastewater as anolyte produced 0·8 and 0·6 V voltage and 89 and 50% COD reduction, respectively, when a novel consortium of four bacterial strains were used. Twenty MFC systems with the developed consortium when electrically connected in series-parallel connection were able to generate 2·3 V and 0·5 mA current. This is the first report demonstrating the application of CETP wastewater in the MFC system, which shows potential of the system towards degradation of complex organic components present in industrial wastewater.

  5. 5
    كتاب
  6. 6
    دورية أكاديمية

    المصدر: Cancers

    مصطلحات موضوعية: breast cancer, estrogen, gene-environment interaction

    الوصف: Simple Summary Breast cancer is the most common cancer in females worldwide. To date, many gene-environment interaction (GxE) studies have been conducted to better understand how genetic factors combine with environmental factors to influence risk. However, previous studies have not found or found only a few interactions by using SNPs which were discovered from genome-wide association studies and have been conducted, for the most part, within European populations. In this study, we focused on estrogen-related lifestyle factors that have been identified for breast cancer, including several well-established reproductive factors that are mediated by hormonal mechanisms. We aimed to examine whether there are any gene and environmental factor interactions related to estrogen exposure or metabolism using a candidate approach in Korean women. We found two interactions in this study, although they were not replicated in the independent large consortium data. These findings suggest specificity in Koreans for breast cancer risk.In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 x 10(-3)). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor ...

    وصف الملف: application/pdf

  7. 7
    دورية أكاديمية

    الوصف: The Mirpur area of Pakistan was severely damaged by extensive coseismic liquefaction following an earthquake of Mw 5.8 on 24 September 2019. Villages within 6 km of the epicenter were adversely affected due to extensive coseismic liquefaction-induced surface and shallow subsurface deformations. The earthquake affected all types of buildings and key infrastructure (e.g., the Upper Jhelum Canal and the main Jhelum–Jatlan road). Field observations and associated effects are presented, including horizontal-to-vertical spectral ratio (HVSR) data sets acquired from three sites to evaluate the site response characteristics of the liquefaction-affected soil profiles. As a result, rupture events strongly influenced spectral features (amplitude and frequency) and site-specific 1D shear-wave velocity profiles at sites S1 and S2. The dynamic behavior of HVSRs across ruptures at sites S1 and S2 corresponds to varied levels of seismic amplification, demonstrating the impact of liquefaction-induced ruptures of seismic origin on the site response that have not been reported previously in the literature. The consistent HVSR pattern of well-established high-frequency peaks at site S3 adjacent to partially damaged to completely collapsed buildings of different types further indicates the susceptibility of potential liquefaction hazard. These results agree with the surface liquefaction signatures in the field, revealed by inverted electrical resistivity tomography models in terms of liquified sand plugs, clay lenses and associated fractures, and increasing trends of radon concentration in the soil with decrease in the distance toward ruptures. Additionally, the successful application of HVSR as a cost-effective and speedy tool attests to the potential of the proposed approach in furnishing complementary information for better assessment of liquefaction hazards in the developing world, where financial constraints are a major issue. This can help with seismic hazard analysis and mitigation in the Mirpur area and may have applications ...

    العلاقة: Leading Edge; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1190/tle40080590.1Test; https://hdl.handle.net/20.500.12831/6982Test; 40; 590; 600; 2-s2.0-85112113804

  8. 8
    مؤتمر

    المؤلفون: Dubey, Kartika, Shah, M.T.

    المصدر: 2016 International Conference on Automatic Control and Dynamic Optimization Techniques (ICACDOT)

  9. 9
    مؤتمر
  10. 10
    مؤتمر