Abstract
Background: Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths, after cervical cancer, among women in Africa. Even if the epidemiological data are now aligned with those relating to industrialized countries, the knowledge concerning breast cancer in Africa, in particularly in Western Africa still lack clinical data, medical treatments, and the evaluation of genetic and non-genetic factors implicated in the etiology of the disease.The early onset and the aggressiveness of diagnosed breast cancers in patients of African ancestry strongly suggest that the genetic risk factor may play an important role but up to date very few studies have been done concerning the impact of germ line mutations in breast cancer in Africa, with a negative impact on prevention, awareness and patient management.We have performed by Next Generation sequencing (NGS) the analysis of all coding regions and the exon-intron junctions of BRCA1 and BRCA2 genes, the two most important genes in hereditary breast cancer, in fifty-one women from Burkina Faso with early onset of breast cancer and or without a family history.Results: We identified six different pathogenic mutations (3 in BRCA1, 3 in BRCA2), two of which have been found to be recurrent , in 8 unrelated women.In addition, we identified, in 4 other patients, two variants of uncertain clinical significance (VUS) and two variants never previously described in literature, although one of which is present in the dbSNP database.Conclusions: The present study is the first in which the entire coding sequence of BRCA genes have been analyzed by Next Generation Sequencing in Burkinabe young women with breast cancer. Our data support the importance of genetic risk factors in the etiology of breast cancer in this population and suggests the necessity to improve the genetic cancer risk assessment. Furthermore, the identification of the most frequent mutations of BRCA1 and BRCA2 in the population of Burkina Faso will allow the development of an inexpensive genetic test for the identification of subjects at high genetic cancer risk, which could be used to design personalized therapeutic protocols.
Next Generation Sequencing-based Genetic Screening in Breast Cancer Risk for Relatives of BRCA Positive Index Cases - A Subcontinent Experience
