Abstract
BackgroundBreast 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.MethodsThe study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing.ResultsEarly onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA.ConclusionThis study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC.
Highlights
Breast cancer (BC) is the most common type of cancer in women
Breast cancer (BC) is the most commonly diagnosed type of cancer in women, accounting for 25% of all cancer cases in the world; with much more cases recorded in developing countries than developed ones
The incidence rate of gene mutation in Breast Cancer type2 (BRCA2) is low, it is associated with a high lifetime risk of BC [5, 6]
Summary
Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. Most of the reported BRCA2 mutations are protein truncating mutations. The incidence rate of gene mutation in BRCA2 is low, it is associated with a high lifetime risk of BC [5, 6]. This lifetime risk is variable among different population [7,8,9,10]. BRCA2 is believed to be the primary cause of 5 to 10% of all cases of BC [11]. Mean age at onset of BC for BRCA2 mutation carriers is reported to be 42.8 years [14]
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