Article
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.
BMC medical genetics - 16 Aug 2017
Elimam Alsmawal A, Aabdein Mohamed Elmogtba Mouaweia Mohamed, Eldeen Mohamed El-Fatih Moly, Altayb Hisham N, Taha Mohamed Adel, Nimir Mohammed N, Dafaalla Mohamed D, Alfaki Musaab M, Abdelrahim Mohamed A, Abdalla Abdelmohaymin A, Mohammed Musab I, Ellaithi Mona, Hamid Muzamil Mahdi Abdel, Hassan Mohamed Ahmed Salih
Abstract excerpt
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single...
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