BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant

Ouédraogo, Serge Yannick; Zoure, Abdou Azaque; Zeye, Moutanou Modeste Judes; Kiendrebeogo, Isabelle Touwendpoulimdé; Zhou, Xi; Sawadogo, Alphonse; Simporé, Jacques; Chen, Hanchun

doi:10.1007/s00438-022-01914-1

Cited by 9 publications

(7 citation statements)

References 60 publications

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“…Almost similar modalities of treatment were reported among Patients in Burkina Faso where 72.9% and 74.4% had chemotherapy and surgery, respectively. However, a lower proportion (28.6%) of these patients had radiotherapy [23]. Similar reports were observed in Addis Ababa-Ethiopia, where 83.9% had chemotherapy, and 88.1% had had surgery; with 7.9% and 11.4%, having had radiotherapy and hormonal therapy, respectively [22].…”

Section: Common Modalities Of Treatmentsupporting

confidence: 74%

“…Similar report was observed among breast cancer patients in Adis Ababa Ethiopia with 63.1% at the same peak range [22]. Almost two-thirds of breast cancer patients are below 50 years old in Burkina Faso [23]. Gabretsadik A et al, in a seven-year (2013-2019) review, reported a median age of 38 years among patients in Southern Ethiopia [21].…”

Section: The Distribution Of Breast Cancer In Sub-saharan Africasupporting

confidence: 64%

“…Gabretsadik A et al, in a seven-year (2013-2019) review, reported a median age of 38 years among patients in Southern Ethiopia [21]. Ouedraogo [9,18,19,23]. Fatiregun reported a mean age of 49.6 (±11.2) years among breast cancer patients in Lagos, Nigeria [20].…”

Section: The Distribution Of Breast Cancer In Sub-saharan Africamentioning

confidence: 99%

“…Novel variants of these genes have been reported to predominate in certain sub-Saharan African regions. This includes the PIK3CA genes and the TP53 genes; which account for 39.09% and 12.78%, respectively in Burkina Faso [23].…”

Section: Types Of Breast Cancermentioning

confidence: 99%

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Epidemiology of Breast Cancer in Sub-Saharan Africa

Adeoye¹

2023

Breast Cancer Updates

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Breast cancer has increasingly become a disease of high morbidity and mortality globally, and in the sub-Saharan African region in particular. Therefore, there is a need to review the current status of breast cancer in the region in the last decade. Though Africa has one of the lowest incidence rates, it has the highest mortality rate globally. There have been reported inter- and intra-country variations in breast cancer morbidity and mortality in the region, with East Africa having the largest incidence rate increase, while southern Africa experiences the lowest increase between 2008 and 2012. Histology remains the commonest modality of diagnosis in sub-Saharan Africa; with invasive ductal cancers being the commonest among patients. Novel genes have also been popular among certain populations, in the presence of the more popular BRACA genes. Adverse outcomes reported include physical and mental health outcomes, which have been linked to some health behaviours. There has been varying modalities of treatments across the region. Therefore, there is a need for better organized and improved screening/diagnostics service accessibility in resource-constrained settings in sub-Saharan Africa. There should also be increased awareness creation among African populations about the availability of treatment facilities and modalities in their communities.

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Section: Common Modalities Of Treatmentsupporting

confidence: 74%

Section: The Distribution Of Breast Cancer In Sub-saharan Africasupporting

confidence: 64%

Section: The Distribution Of Breast Cancer In Sub-saharan Africamentioning

confidence: 99%

Section: Types Of Breast Cancermentioning

confidence: 99%

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Epidemiology of Breast Cancer in Sub-Saharan Africa

Adeoye¹

2023

Breast Cancer Updates

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“…Initially, 21 confirmed ICD genes were studied, and 7 were found to be significantly associated with the survival and prognosis of patients with BC. Among them, the oncogenic genes were PIK3CA ( Hou et al, 2022 ; Ouedraogo et al, 2022 ), EIF2AK3 ( Chen et al, 2019 ), and MYD88 ( Chen et al, 2015 ), and the immune-related genes were ATG5 ( Park et al, 2022 ), HSP90AA1 ( Lin et al, 2020 ; Liu et al, 2021 ), IL1R1 ( Dagenais et al, 2017 ; Tulotta et al, 2021 ), and CD8A ( Hu et al, 2021 ), all of which have been found to be related to the occurrence and development of BC. Cho et al (2022) found using immunohistochemistry that PIK3CA mutations in patients with BC receiving adjuvant chemotherapy could cause poor survival and prognosis.…”

Section: Discussionmentioning

confidence: 99%

Immunogenic cell death-related classifications in breast cancer identify precise immunotherapy biomarkers and enable prognostic stratification

et al. 2022

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Background: Immunogenic cell death (ICD) remodels the tumor immune microenvironment, plays an inherent role in tumor cell apoptosis, and promotes durable protective antitumor immunity. Currently, appropriate biomarker-based ICD immunotherapy for breast cancer (BC) is under active exploration.Methods: To determine the potential link between ICD genes and the clinical risk of BC, TCGA-BC was used as the training set and GSE58812 was used as the validation set. Gene expression, consistent clustering, enrichment analysis, and mutation omics analyses were performed to analyze the potential biological pathways of ICD genes involved in BC. Furthermore, a risk and prognosis model of ICD was constructed to evaluate the correlation between risk grade and immune infiltration, clinical stage, and survival prognosis.Results: We identified two ICD-related subtypes by consistent clustering and found that the C2 subtype was associated with good survival prognosis, abundant immune cell infiltration, and high activity of immune biological processes. Based on this, we constructed and validated an ICD risk and prognosis model of BC, including ATG5, HSP90AA1, PIK3CA, EIF2AK3, MYD88, IL1R1, and CD8A. This model can effectively predict the survival rate of patients with BC and is negatively correlated with the immune microenvironment and clinical stage.Conclusion: This study provides new insights into the role of ICD in BC. The novel classification risk model based on ICD in BC established in this study can aid in estimating the potential prognosis of patients with BC and the clinical outcomes of immunotherapy and postulates targets that are more useful in comprehensive treatment strategies.

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