High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

<p>Abstract</p> <p>Background</p> <p>A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations constitute the vast majority of BRCA defects in Russia, however their impact in OC morbidity has not been yet systematically studied. Furthermore, Russian population is characterized by a relatively high frequency of CHEK2 and NBS1 (NBN) heterozygotes, but it remains unclear whether these two genes contribute to the OC risk.</p> <p>Methods</p> <p>The study included 354 OC patients from 2 distinct, geographically remote regions (290 from North-Western Russia (St.-Petersburg) and 64 from the south of the country (Krasnodar)). DNA samples were tested by allele-specific PCR for the presence of 8 founder mutations (BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT, CHEK2 1100delC, CHEK2 IVS2+1G>A, NBS1 657del5). In addition, literature data on the occurrence of BRCA1, BRCA2, CHEK2 and NBS1 mutations in non-selected ovarian cancer patients were reviewed.</p> <p>Results</p> <p>BRCA1 5382insC allele was detected in 28/290 (9.7%) OC cases from the North-West and 11/64 (17.2%) OC patients from the South of Russia. In addition, 4 BRCA1 185delAG, 2 BRCA1 4153delA, 1 BRCA2 6174delT, 2 CHEK2 1100delC and 1 NBS1 657del5 mutation were detected. 1 patient from Krasnodar was heterozygous for both BRCA1 5382insC and NBS1 657del5 variants.</p> <p>Conclusion</p> <p>Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin. Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.</p

Many Labs 5: Testing Pre-Data-Collection Peer Review as an Intervention to Increase Replicability

Replication studies in psychological science sometimes fail to reproduce prior findings. If these studies use methods that are unfaithful to the original study or ineffective in eliciting the phenomenon of interest, then a failure to replicate may be a failure of the protocol rather than a challenge to the original finding. Formal pre-data-collection peer review by experts may address shortcomings and increase replicability rates. We selected 10 replication studies from the Reproducibility Project: Psychology (RP:P; Open Science Collaboration, 2015) for which the original authors had expressed concerns about the replication designs before data collection; only one of these studies had yielded a statistically significant effect (p &lt;.05). Commenters suggested that lack of adherence to expert review and low-powered tests were the reasons that most of these RP:P studies failed to replicate the original effects. We revised the replication protocols and received formal peer review prior to conducting new replication studies. We administered the RP:P and revised protocols in multiple laboratories (median number of laboratories per original study = 6.5, range = 3–9; median total sample = 1,279.5, range = 276–3,512) for high-powered tests of each original finding with both protocols. Overall, following the preregistered analysis plan, we found that the revised protocols produced effect sizes similar to those of the RP:P protocols (Δr =.002 or.014, depending on analytic approach). The median effect size for the revised protocols (r =.05) was similar to that of the RP:P protocols (r =.04) and the original RP:P replications (r =.11), and smaller than that of the original studies (r =.37). Analysis of the cumulative evidence across the original studies and the corresponding three replication attempts provided very precise estimates of the 10 tested effects and indicated that their effect sizes (median r =.07, range =.00–.15) were 78% smaller, on average, than the original effect sizes (median r =.37, range =.19–.50)

Greening of production process in food processing enterprises in Poland

The article focuses on specific aspects of greening of production processes in food processing sector in Poland. It discusses relevant methods and techniques for managing the eco-friendly production process in the examined food processing enterprises in Poland, and compares the situation in the world. The purpose of the paper was also to present the results of the questionnaire on greening of producing process in food processing entities. The results of the questionnaire are preceded by a detailed analysis of different approaches to greening of production, along with an assessment of its future development according to the requirements of EU directives for food processing enterprises in Poland. The results showed that after Poland's accession to the European Union the majority of food processing enterprises implemented and intensified their efforts on water conservation, waste disposal, and reduction of energy consumption between 2010 and 2017. However, in practice, there was no considerable reduction of pollutants due to the setting of insufficient level of emission targets

Many Labs 5: Testing Pre-Data-Collection Peer Review as an Intervention to Increase Replicability

none172siReplication studies in psychological science sometimes fail to reproduce prior findings. If these studies use methods that are unfaithful to the original study or ineffective in eliciting the phenomenon of interest, then a failure to replicate may be a failure of the protocol rather than a challenge to the original finding. Formal pre-data-collection peer review by experts may address shortcomings and increase replicability rates. We selected 10 replication studies from the Reproducibility Project: Psychology (RP:P; Open Science Collaboration, 2015) for which the original authors had expressed concerns about the replication designs before data collection; only one of these studies had yielded a statistically significant effect (p &lt;.05). Commenters suggested that lack of adherence to expert review and low-powered tests were the reasons that most of these RP:P studies failed to replicate the original effects. We revised the replication protocols and received formal peer review prior to conducting new replication studies. We administered the RP:P and revised protocols in multiple laboratories (median number of laboratories per original study = 6.5, range = 3–9; median total sample = 1,279.5, range = 276–3,512) for high-powered tests of each original finding with both protocols. Overall, following the preregistered analysis plan, we found that the revised protocols produced effect sizes similar to those of the RP:P protocols (Δr =.002 or.014, depending on analytic approach). The median effect size for the revised protocols (r =.05) was similar to that of the RP:P protocols (r =.04) and the original RP:P replications (r =.11), and smaller than that of the original studies (r =.37). Analysis of the cumulative evidence across the original studies and the corresponding three replication attempts provided very precise estimates of the 10 tested effects and indicated that their effect sizes (median r =.07, range =.00–.15) were 78% smaller, on average, than the original effect sizes (median r =.37, range =.19–.50).mixedEbersole C.R.; Mathur M.B.; Baranski E.; Bart-Plange D.-J.; Buttrick N.R.; Chartier C.R.; Corker K.S.; Corley M.; Hartshorne J.K.; IJzerman H.; Lazarevic L.B.; Rabagliati H.; Ropovik I.; Aczel B.; Aeschbach L.F.; Andrighetto L.; Arnal J.D.; Arrow H.; Babincak P.; Bakos B.E.; Banik G.; Baskin E.; Belopavlovic R.; Bernstein M.H.; Bialek M.; Bloxsom N.G.; Bodroza B.; Bonfiglio D.B.V.; Boucher L.; Bruhlmann F.; Brumbaugh C.C.; Casini E.; Chen Y.; Chiorri C.; Chopik W.J.; Christ O.; Ciunci A.M.; Claypool H.M.; Coary S.; Colic M.V.; Collins W.M.; Curran P.G.; Day C.R.; Dering B.; Dreber A.; Edlund J.E.; Falcao F.; Fedor A.; Feinberg L.; Ferguson I.R.; Ford M.; Frank M.C.; Fryberger E.; Garinther A.; Gawryluk K.; Ashbaugh K.; Giacomantonio M.; Giessner S.R.; Grahe J.E.; Guadagno R.E.; Halasa E.; Hancock P.J.B.; Hilliard R.A.; Huffmeier J.; Hughes S.; Idzikowska K.; Inzlicht M.; Jern A.; Jimenez-Leal W.; Johannesson M.; Joy-Gaba J.A.; Kauff M.; Kellier D.J.; Kessinger G.; Kidwell M.C.; Kimbrough A.M.; King J.P.J.; Kolb V.S.; Kolodziej S.; Kovacs M.; Krasuska K.; Kraus S.; Krueger L.E.; Kuchno K.; Lage C.A.; Langford E.V.; Levitan C.A.; de Lima T.J.S.; Lin H.; Lins S.; Loy J.E.; Manfredi D.; Markiewicz L.; Menon M.; Mercier B.; Metzger M.; Meyet V.; Millen A.E.; Miller J.K.; Montealegre A.; Moore D.A.; Muda R.; Nave G.; Nichols A.L.; Novak S.A.; Nunnally C.; Orlic A.; Palinkas A.; Panno A.; Parks K.P.; Pedovic I.; Pekala E.; Penner M.R.; Pessers S.; Petrovic B.; Pfeiffer T.; Pienkosz D.; Preti E.; Puric D.; Ramos T.; Ravid J.; Razza T.S.; Rentzsch K.; Richetin J.; Rife S.C.; Rosa A.D.; Rudy K.H.; Salamon J.; Saunders B.; Sawicki P.; Schmidt K.; Schuepfer K.; Schultze T.; Schulz-Hardt S.; Schutz A.; Shabazian A.N.; Shubella R.L.; Siegel A.; Silva R.; Sioma B.; Skorb L.; de Souza L.E.C.; Steegen S.; Stein L.A.R.; Sternglanz R.W.; Stojilovic D.; Storage D.; Sullivan G.B.; Szaszi B.; Szecsi P.; Szoke O.; Szuts A.; Thomae M.; Tidwell N.D.; Tocco C.; Torka A.-K.; Tuerlinckx F.; Vanpaemel W.; Vaughn L.A.; Vianello M.; Viganola D.; Vlachou M.; Walker R.J.; Weissgerber S.C.; Wichman A.L.; Wiggins B.J.; Wolf D.; Wood M.J.; Zealley D.; Zezelj I.; Zrubka M.; Nosek B.A.Ebersole, C. R.; Mathur, M. B.; Baranski, E.; Bart-Plange, D. -J.; Buttrick, N. R.; Chartier, C. R.; Corker, K. S.; Corley, M.; Hartshorne, J. K.; Ijzerman, H.; Lazarevic, L. B.; Rabagliati, H.; Ropovik, I.; Aczel, B.; Aeschbach, L. F.; Andrighetto, L.; Arnal, J. D.; Arrow, H.; Babincak, P.; Bakos, B. E.; Banik, G.; Baskin, E.; Belopavlovic, R.; Bernstein, M. H.; Bialek, M.; Bloxsom, N. G.; Bodroza, B.; Bonfiglio, D. B. V.; Boucher, L.; Bruhlmann, F.; Brumbaugh, C. C.; Casini, E.; Chen, Y.; Chiorri, C.; Chopik, W. J.; Christ, O.; Ciunci, A. M.; Claypool, H. M.; Coary, S.; Colic, M. V.; Collins, W. M.; Curran, P. G.; Day, C. R.; Dering, B.; Dreber, A.; Edlund, J. E.; Falcao, F.; Fedor, A.; Feinberg, L.; Ferguson, I. R.; Ford, M.; Frank, M. C.; Fryberger, E.; Garinther, A.; Gawryluk, K.; Ashbaugh, K.; Giacomantonio, M.; Giessner, S. R.; Grahe, J. E.; Guadagno, R. E.; Halasa, E.; Hancock, P. J. B.; Hilliard, R. A.; Huffmeier, J.; Hughes, S.; Idzikowska, K.; Inzlicht, M.; Jern, A.; Jimenez-Leal, W.; Johannesson, M.; Joy-Gaba, J. A.; Kauff, M.; Kellier, D. J.; Kessinger, G.; Kidwell, M. C.; Kimbrough, A. M.; King, J. P. J.; Kolb, V. S.; Kolodziej, S.; Kovacs, M.; Krasuska, K.; Kraus, S.; Krueger, L. E.; Kuchno, K.; Lage, C. A.; Langford, E. V.; Levitan, C. A.; de Lima, T. J. S.; Lin, H.; Lins, S.; Loy, J. E.; Manfredi, D.; Markiewicz, L.; Menon, M.; Mercier, B.; Metzger, M.; Meyet, V.; Millen, A. E.; Miller, J. K.; Montealegre, A.; Moore, D. A.; Muda, R.; Nave, G.; Nichols, A. L.; Novak, S. A.; Nunnally, C.; Orlic, A.; Palinkas, A.; Panno, A.; Parks, K. P.; Pedovic, I.; Pekala, E.; Penner, M. R.; Pessers, S.; Petrovic, B.; Pfeiffer, T.; Pienkosz, D.; Preti, E.; Puric, D.; Ramos, T.; Ravid, J.; Razza, T. S.; Rentzsch, K.; Richetin, J.; Rife, S. C.; Rosa, A. D.; Rudy, K. H.; Salamon, J.; Saunders, B.; Sawicki, P.; Schmidt, K.; Schuepfer, K.; Schultze, T.; Schulz-Hardt, S.; Schutz, A.; Shabazian, A. N.; Shubella, R. L.; Siegel, A.; Silva, R.; Sioma, B.; Skorb, L.; de Souza, L. E. C.; Steegen, S.; Stein, L. A. R.; Sternglanz, R. W.; Stojilovic, D.; Storage, D.; Sullivan, G. B.; Szaszi, B.; Szecsi, P.; Szoke, O.; Szuts, A.; Thomae, M.; Tidwell, N. D.; Tocco, C.; Torka, A. -K.; Tuerlinckx, F.; Vanpaemel, W.; Vaughn, L. A.; Vianello, M.; Viganola, D.; Vlachou, M.; Walker, R. J.; Weissgerber, S. C.; Wichman, A. L.; Wiggins, B. J.; Wolf, D.; Wood, M. J.; Zealley, D.; Zezelj, I.; Zrubka, M.; Nosek, B. A

Many Labs 5: Testing Pre-Data-Collection Peer Review as an Intervention to Increase Replicability

Replication studies in psychological science sometimes fail to reproduce prior findings. If these studies use methods that are unfaithful to the original study or ineffective in eliciting the phenomenon of interest, then a failure to replicate may be a failure of the protocol rather than a challenge to the original finding. Formal pre-data-collection peer review by experts may address shortcomings and increase replicability rates. We selected 10 replication studies from the Reproducibility Project: Psychology (RP:P; Open Science Collaboration, 2015) for which the original authors had expressed concerns about the replication designs before data collection; only one of these studies had yielded a statistically significant effect (p lt .05). Commenters suggested that lack of adherence to expert review and low-powered tests were the reasons that most of these RP:P studies failed to replicate the original effects. We revised the replication protocols and received formal peer review prior to conducting new replication studies. We administered the RP:P and revised protocols in multiple laboratories (median number of laboratories per original study = 6.5, range = 3–9; median total sample = 1,279.5, range = 276–3,512) for high-powered tests of each original finding with both protocols. Overall, following the preregistered analysis plan, we found that the revised protocols produced effect sizes similar to those of the RP:P protocols (Δr =.002 or.014, depending on analytic approach). The median effect size for the revised protocols (r =.05) was similar to that of the RP:P protocols (r =.04) and the original RP:P replications (r =.11), and smaller than that of the original studies (r =.37). Analysis of the cumulative evidence across the original studies and the corresponding three replication attempts provided very precise estimates of the 10 tested effects and indicated that their effect sizes (median r =.07, range =.00–.15) were 78% smaller, on average, than the original effect sizes (median r =.37, range =.19–.50)