New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.

Founder mutations have been reported in BRCA1 and BCRA2 in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mutations in inherited breast cancer. The pathogenic variant c.815_824dup of BRCA1 has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade.

[Issues involving breast cancer management in Senegal: a cross-sectional study]. / Problématique de la prise en charge des cancers du sein au Sénégal: une approche transversale.

At a time when innovative therapies in breast cancer multiply, poorer countries such as Senegal are still lag far behind in the overall management of this type of cancer. In Senegal, although the treatment of advanced breast cancer is now well codified, survival and morbidity outcomes are still mediocre in view of diagnostic delays and of sometimes expensive and poorly tolerated mutilating treatments become necessary. With respect to advanced cancers, the challenges will lie in building of palliative care centres and in developing multidisciplinary approaches to improve quality of life and to support patients. On the other hand, with respect to preclinical or potentially curable cancers, the challenges are immense given the importance of early detection, localisation and diagnosis (stereotactic or ultrasound guided biopsy) but also of precision surgery and of complete resection (indexing - excision ensuring a margin of healthy tissue and specimen radiograph) while minimizing complications such as those of classic dissection (sentinel lymph node biopsy). Our health structures are not always prepared to achieve these goals. This is a situational analysis of the contextual obstacles that still exist and add a burden on the overall management of breast cancer in Senegal.

[Impact of AQUASOU: a practice-based research program at the Rufisque Health Centre, Senegal]. / Impact d'AQUASOU: un programme de recherche-action au Centre de Santé de Rufisque, Sénégal.

INTRODUCTION: Due to the inadequacy of preventive strategies to reduce maternal and neonatal mortality, the current priority concerns emergency obstetric and neonatal care, as defined in the Improvement of the Quality and Access to Emergency Obstetric Healthcare programme (AQUASOU). The objective of this study was to assess the impact of the AQUASOU programme on improved availability and quality of healthcare in the Rufisque Health District in Senegal. METHODOLOGY: We conducted a qualitative and operational descriptive study evaluating the activities of the AQUASOU programme between May 2004 and December 2007: observation of Prenatal Consultations, supervision of emergency care, organization of "mirror meetings" and medical evacuation audits. The periods before and after setting-up of the programme were compared. RESULTS: These various activities had a real impact on indicators of accessibility and availability of healthcare. A consultation framework based on the principle of feedback control and a "practice review" approach allowed an improvement of the quality of care. The number of deliveries increased by 60%. The annual surgical activity was increased sevenfold and the number of evacuations to more specialised structures was decreased (0.4% versus 9.6%), while evacuations admitted to the local structure increased. The maternal mortality rate decreased from 656 to 435 per 100,000 live births. The stillbirth rate decreased from 51 to 56 per thousand. The leading causes of death were bleeding complications (mortality of 3.7%) and paroxysmal complications of hypertension (mortality of 2.7%).