15 research outputs found
International practices, beliefs and values in not-for-profit financial reporting
Financial reporting is an important aspect of not-for-profit organisationsâ (NPOsâ) discharge of accountability, particularly for donations and funding. Nevertheless, NPO financial reporting lacks a global approach. Drawing on a multi-national survey attracting more than 600 respondents, this paper utilises a pattern-matching methodology to capturing institutional logics. We uncover tension between NPO financial reporting practice (underpinned by symbolic and material carriers of a local financial reporting logic), and a majority belief that NPO international financial reporting standards should be developed and followed. Conflict between local practice and stakeholder beliefs is evident. Significant belief differences across key stakeholder groups will likely impact NPO financial reporting development
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in FrenchâCanadian families with high risk of breast and ovarian cancer
Background and objective:
In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported.
Methods:
A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study.
Results:
8 of the 15 distinct mutations found in 62 BRCA1/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in > or =2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores > or =18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p or =18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population.
Conclusion:
In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores > or =18, represents an efficient test in terms of overall cost and sensitivity
Parole d'historiens
L'histoire est-elle une science exacte ou le grand rĂ©cit d'une Ă©popĂ©e, la description mĂ©thodique du passĂ© ou le roman vrai des origines ? L'historien doit-il se montrer attentif aux questions du prĂ©sent ou, au contraire, s'en -mĂ©fier ? Est-il, avant tout, un antiquaire censĂ© prĂ©server avec prĂ©caution les belles choses du passĂ©, un chercheur mĂ©ticuleux en quĂȘte de vĂ©ritĂ©s, un intellectuel engagĂ© chargĂ© de critiquer ou de reformuler les grands mythes de la nation ? Autant de questions que se sont posĂ©es les historiens quĂ©bĂ©cois et auxquelles ils ont rĂ©pondu, chacun Ă leur maniĂšre, depuis trois siĂšcles. Cette anthologie rĂ©unit pour la premiĂšre fois les noms qui ont marquĂ© la maniĂšre d'Ă©crire et d'enseigner l'histoire du QuĂ©bec : de Pierre-François-Xavier de Charlevoix Ă Jocelyn LĂ©tourneau, en passant par François-Xavier Garneau, Thomas Chapais, Lionel Groulx, Marcel Trudel, Guy FrĂ©gault, Jean Hamelin, Louise DechĂȘne, Micheline Dumont, Paul-AndrĂ© Linteau, RenĂ© Durocher, GĂ©rard Bouchard et tant d'autres. Voici les rĂ©fĂ©rences essentielles pour alimenter les dĂ©bats actuels sur la fonction sociale de l'histoire
Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers
Item does not contain fulltextBACKGROUND: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. METHODS: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. RESULTS: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. CONCLUSION: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. IMPACT: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk