BackgroundGermline mutations in the BRCA1 and BRCA2 genes account for 20–25 % of inherited breast cancers and about 10 % of all breast cancer cases. Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorectomy, hormonal prevention therapy, improved screening, and targeted therapies such as PARP-inhibition. We estimate that African Americans and Hispanics are 4–5 times less likely to receive BRCA screening, despite having similar mutation frequencies as non-Jewish Caucasians, who have higher breast cancer mortality. To begin addressing this health disparity, we initiated a nationwide trial of BRCA testing of Latin American women with breast cancer. Patients were recruited through community organizations, clinics, public events, and by mail and Internet. Subjects completed the consent process and questionnaire, and provided a saliva sample by mail or in person. DNA from 120 subjects was used to sequence the entirety of BRCA1 and BRCA2 coding regions and splice sites, and validate pathogenic mutations, with a total material cost of $85/subject. Subjects ranged in age from 23 to 81 years (mean age, 51 years), 6 % had bilateral disease, 57 % were ER/PR+, 23 % HER2+, and 17 % had triple-negative disease.ResultsA total of seven different predicted deleterious mutations were identified, one newly described and the rest rare. In addition, four variants of unknown effect were found.ConclusionsApplication of this strategy on a larger scale could lead to improved cancer care of minority and underserved populations.Electronic supplementary materialThe online version of this article (doi:10.1186/s13742-015-0088-z) contains supplementary material, which is available to authorized users.

The public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing the collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing the burden, Increasing worldwide concern over the effects of moderate altitude exposure on aircrew performance in unpressurized aircraft recently prompted efforts to formulate international standards for the use of supplementary oxygen. The purpose of this study was to assess the impact of low to moderate levels of hypoxic hypoxia on the performance of aircrew personnel. Fifty subjects were exposed in a randomized controlled fashion to 45-min exposures at each altitude (sea level, 8000, 10,000, 12,000 and 14,000 ft) simulated by the ROBD. During the latter part of the exposure the subjects completed the CogScreen®-HE to measure their cognitive performance. Saturation of Peripheral Oxygen (SpO2) analysis showed that although the subjects did become hypoxic (p<001), there was not statistically significant change in reaction time (p=.781), accuracy (p=.152), or throughout (p=.967) with increasing altitude. The results indicate that healthy individuals aged 19 to 45 years do not experience significant cognitive deficit, as measured by the CogScreen®-HE, when exposed to moderate levels of hypoxia for exposure times of 45 min at various altitudes.hypoxia, cognitive deficit, ROBD, CogScreen®-HE UNCLAS UNCLAS UNCLAS SAR 27

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The results support the efficacy of the tactile system in providing directional cues for maintaining pilot performance during a hover maneuver over a moving target.