The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease‐associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population‐specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad‐based oncogenetic testing in some populations.

Aim: Knowledge of the spectrum and frequencies of paediatric emergencies presenting to an emergency department (ED) of individual developing countries is vital in optimizing the quality of care delivered locally. Methods: A prospective 6 wk review of all paediatric (< 18y) attendees to an urban ED was done, with patient age, presenting complaints, diagnoses, time of arrival and disposition recorded. Results: Complete data were available on 1172 patients, with an age range of 4 d to 18 y (mean ± SD 6.9 ± 5.6 y); 43% were aged ≤4 y. The main presenting complaints were injuries (26.9%), fever (24%) and breathing difficulties (16.6%). The most common diagnosis was minor trauma (24.2%), with soft‐tissue injuries predominating (80.6%). The other diagnoses were asthma (12.6%), upper respiratory infections (12.1%), other infections (12.1%) and gastroenteritis (11.8%). Equal proportions of patients were seen throughout the day. 25% of patients were admitted. Young age (<1 y); presence of past medical history, general practitioner referrals, diagnosis of bronchiolitis and pneumonia were significantly associated with risk of admission. Conclusion: A wide spectrum of paediatric illnesses was seen in the ED, with an overrepresentation of young children. This supports the decision to have either a separate paediatric ED or paediatric residents on the staff. The training curricula should emphasize the management of paediatric trauma, infections and asthma. Alternatively, developing guidelines for the five most common presenting complaints would account for 82% of all attendees and could be directed towards all staff on the ED.

The results suggest a distinctly different mutation spectrum of MMR genes between northern and southern Chinese populations and call for a systematic, nationwide study to facilitate the design of a MMR gene mutation detection strategy tailored for individual populations in China.