Abstract
Breast cancer is a major cause of morbidity and mortality in women worldwide. In Sudan, it is the most commonly diagnosed cancer. This study assesses the prevalence of BRCA1 and BRCA2 mutations among female students with a family history of breast cancer, in secondary schools of Marawi Locality, Northern State, Sudan. From a survey of 2370 students, 67 cases (47 with family history and 20 controls) were analyzed for BRCA1 and BRCA2 mutations with a single-stranded conformation polymorphism (SSCP) mutation detection method applied to peripheral blood. Eighteen subjects knew of first degree female relatives with breast cancer, 23 with second degree female family members affected and 6 with related male sufferers. Twenty randomly selected girls from the remainder of the survey population with no known family history were also tested. The breast cancer susceptibility genes BRCA1 and BRCA2 accounted, respectively, for 1.21% of responders or 51% of those claiming a family history. Mutations were found in 20% of the group selected with no family history. Only 2 BRCA 2 mutations were found, both in girls with no known afflicted relatives. Six girls knew of male relatives with breast cancer; five of these girls carried mutant BRCA 1. Most of the BRCA1- mutations located to exon 11 fragments 11.9 and 11.1. The study indicates a high prevalence of genetically associated breast cancer in the Marawi locality suggesting a need to focus on the two mutation sites in developing screening protocols for at least this area of Sudan.
Highlights
Mutations in BRCA1 and BRCA2 have been reported in African-American women, but the extent of the contribution of BRCA1 and BRCA2 to breast cancer burden in Africa is uncertain
(6) the current study is aimed to detect the prevalence of BRCA1 and BRCA2 mutations among female in secondary schools at Marawi Locality Northern State Sudan
Variants detected included 5 truncating mutations, one of which was in the sole male patient. This result suggests that in Central Sudan BRCA1/2 represents an important etiological factor of breast cancer in young women and possibly males.[7]In this study, school girls were taken to represent a cross section of their community and were offered a questionnaire relating to breast cancer in their families
Summary
Mutations in BRCA1 and BRCA2 have been reported in African-American women, but the extent of the contribution of BRCA1 and BRCA2 to breast cancer burden in Africa is uncertain. Variants detected included 5 truncating mutations, one of which (in BRCA2) was in the sole male patient This result suggests that in Central Sudan BRCA1/2 represents an important etiological factor of breast cancer in young women and possibly males.[7]In this study, school girls were taken to represent a cross section of their community and were offered a questionnaire relating to breast cancer in their families. All those who knew of afflicted relatives, plus a sample of the majority who did not have a known family history, were subjected to genetic analysis as described below
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