Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

BACKGROUND: The RNase III enzyme DICER1 plays a central role in maturation of microRNAs. Identification of neoplasia-associated germ-line and somatic mutations in DICER1 indicates that mis-expression of miRNAs in cancer may result from defects in their processing. As part of a recent study of DICER1 RNase III domains in 96 testicular germ cell tumors, a single RNase IIIb domain mutation was identified in a seminoma. To further explore the importance of DICER1 mutations in the etiology of testicular germ cell tumors (TGCT), we studied germ-line DNA samples from 43 probands diagnosed with familial TGCT. FINDINGS: We carried out High Resolution Melting Curve Analysis of DICER1 exons 2-12, 14-19, 21 and 24-27. All questionable melt curves were subjected to confirmatory Sanger sequencing.Sanger sequencing was used for exons 13, 20, 22 and 23. Intron-exon boundaries were included in all analyses. We identified 12 previously reported single nucleotide polymorphisms and two novel single nucleotide variants. No likely deleterious variants were identified; notably no mutations that were predicted to truncate the protein were identified. CONCLUSIONS: Taken together with previous studies, the findings reported here suggest a very limited role for either germ-line or somatic DICER1 mutations in the etiology of TGCT.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.

BACKGROUND: The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested. Although inherited PALB2 mutations are associated with increased risks of developing breast cancer, risk to ovarian cancer has not been fully explored in this demographically unique population. METHODS: We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. RESULTS: We identified a PALB2 p.Q775X carrier in a breast cancer family, who had invasive ductal breast carcinomas at 39 and 42 years of age. We also identified a PALB2 p.Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52. CONCLUSION: Our findings, taken together with previous reports, support adding PALB2 c.2323C>T p.Q775X to the list of cancer susceptibility genes for which founder mutations have been identified in the French Canadian population.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

Investigation of the Effect of Profitability, Institutional Ownership and Effective Tax Rate on Social Responsibility of Automobile Manufacturing Companies Listed in Tehran Stock Exchange

Today, the impact of social responsibility on financial situation of companies has been proven. This effect varies depending on the community where the company is located and how the company looks at it. In the meantime, the community's viewpoint of the company is of great importance, because companies that do not observe the principles and social rights of the shareholders (such as no harm to the environment, employee salaries, and government rights, such as tax payments) may have problems with investors’ willingness to invest. This issue among automobile companies can be of great importance due to the large number of employees and the possibility of environment pollution of the industry. Accordingly, the purpose of this study is to investigate the effect of profitability, institutional ownership and effective tax rate on social responsibility of car manufacturing companies in the Tehran Stock Exchange.The statistical population of the study consisted of a sample of 20 active companies in the automobile industry and automotive parts manufacturing in Tehran Stock Exchange during the period of 1385(2006) to 1394(2015). To assess social responsibility, Carroll model and voluntary responsibility, ethical responsibility, and economic responsibility indicators were used and the final score of each company's liability was calculated using the data envelopment analysis method. Data analysis was performed using panel regression and the econometric software Eviews 10.The results showed that institutional ownership has no significant effect on corporate social responsibility. The effective tax rate has a positive and significant impact on corporate social responsibility. Profitability has a positive and significant impact on corporate social responsibility. Keywords: China Effective Tax Rate, Social Responsibility, Profitability, Automotive Industry

DRAG FORCE ,RELATED TO BODY OIMENSIONS IN BUITERFLY SWIMMING

During four last decades, a great deal of attention has been given to the presupposed relationship between body dimensions and hydrodynamic resistance related drag for actively swimming subjects to anthropometrical variables. The development of a new indirect method of determining active drag (IMAD) warranted a reevaluation of this relationship, which was the aim of present study. Twenty female swimmers with different body shape and experience ranging from 13 to 19 years and in mass from 42 to 68 kg have volunteered in this study. They were requested to swim a 10-m distance as fast as they could and three trials with enough rest in between. They have also been instructed to glide at the end of 10-m swim, by whistling. until still position. The time of 10-m swim and the glide distance were measured with reasonable precision. The variables were mass, height. upper limit length, arm, forearm, hand lengths, and torso, arm, and head circumferences. Very high and significant correlations were found between active drag and anthropometric variables. The drag force for advanced swimmers was ranging from 26 to 36 N, while for other swimmers was ranging from 16 to 32 N. The results achieved from this study agreed well with the results obtained by other researchers using direct measurement systems