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Keywords: Cancer syndromes; Genetic testing; Mutation detection; Targeted sequencing

M. Biancolella 1; NLM. Ouedraogo 2; B. Testa 3; N. Zongo 4; O.M. Lompo 5; F. Djigma 6; C. Conte 7; I. Bagni 7; F. Sangiuolo 3; J. Simpore 2,6; G. Novelli 3,8

1) Department of Biology , University of Rome "Tor Vergata ," , Rome, Italy; 2) Université Saint Thomas d’Aquin/ Hôpital Saint Camille de Ouagadougou -06 BP 10212 Ouagadougou, Burkina Faso,; 3) Department of Biomedicine and Prevention, University of Rome "Tor Vergata ," Rome, Italy; 4) Service of General Surgery and Digestive, University Hospital Yalgado Ouédraogo, Burkina Faso,; 5) Yalgado Ouédraogo University Hospital (CHU/YO), 03 BP 7022, Burkina Faso; 6) Laboratory of Molecular Biology and Genetics/ Pietro Annigoni Biomolecular Research Centre (CERBA), (LABIOGENE/CERBA), Joseph Ky-Zerbo University, 03 BP 7021 Ouagadougou 03, Burkina Faso; 7) Laboratory of Medical Genetics, Tor Vergata Hospital , Rome, Italy; 8) Neuromed, I.R.C.C.S, Pozzilli, Italy

Breast cancer is the most commonly diagnosed cancer in Africa, including sub-Saharan Africa (SSA) and the leading cause of cancer mortality in women. To date, knowledge of the etiological factors of breast cancer in Africa has been poorly studied.
The early-onset and the aggressive clinical features of breast cancer in patients of African ancestry suggest that the hereditary predisposition may have an important function, but the absence of extensive studies, specially for Sub-Saharan Africa (SSA), greatly reduces the understanding of the impact of germline mutations in breast cancer patients and its effects in terms of prevention, diagnosis and patient management.
The aim of this study is to define the impact of germline mutations in BRCA1 and BRCA2 genes in breast cancer among young women in Burkina Faso and determine their implication in clinics perspectives.
Fifty-two women with early-onset breast cancer (≤ 40 years), eleven of them with a family history were analyzed by Next Generation Sequencing (NGS).
Six different pathogenic mutations (3 in BRCA1, 3 in BRCA2), two of which recurrent in more than one patient, were identified in eight unrelated patients.
Moreover, three variants of uncertain clinical significance (VUS) and three novel unclassified variants were identified in six other patients with no family history of the disease.
The present study is the first one in which the entire coding sequence of both BRCA genes is analyzed in Burkinabe women with breast cancer. Our data suggest that hereditary predisposition is responsible for a significant proportion of breast cancer in Burkina Faso women that should undergo genetic cancer risk assessment. The identification of the most common mutations of BRCA1 and BRCA 2 genes in the Burkina Faso population will allow the development of a cost-effective genetic test for the early detection of these mutations contributing to the medical treatment of women with breast cancer, with important consequences in society and economy of this country.