41 research outputs found

    The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

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    Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States (2). Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report

    A phenomenological exploration of coping responses associated with choking in sport

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    The likelihood of choking in sport is moderated by the athlete’s choice of coping strategy. Yet a lack of consensus exists with regards to which strategies encourage or prevent the choke. Accordingly, the aim of this study was to explore, through qualitative methods, the coping responses perceived to be associated with choking episodes. Semi-structured interviews were completed with six elite golfers who had experienced both choking and clutch performances under pressure. It was revealed that avoidance coping strategies (e.g. rushing and denial) were considered to precede and/or accompany their choking episodes, whilst approach coping strategies (e.g. pre- and post-shot routines, cognitive restructuring and simulated practice) were associated with their clutch performances. Such findings are discussed within the context of the extant choking literature, and used to inform recommendations for practitioners working with choking-susceptible performers
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