Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients

Hagag, E.; Shwaireb, Mohamed; Coffa, Jordy; Wakil, Abeer El

doi:10.26719/2013.19.3.255

Cited by 6 publications

(4 citation statements)

References 25 publications

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“…Additional studies on BRCA genes have expanded to identifying the population-based mutation frequency and screening/genetic testing in the Democratic Republic of the Congo ( 80 ), Morocco ( 81 ), Tunisia ( 82 , 83 ), Algeria ( 84 , 85 ), familial studies in Morocco ( 86 , 87 ), and large genomic rearrangement in Egypt ( 88 , 89 ). Of these, the contribution of BRCA mutations to male breast cancer was reported only in the Moroccan study by Guaoua et al ( 86 ).…”

Section: Resultsmentioning

confidence: 99%

A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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Cancer is the second leading cause of death globally and is projected to overtake infectious disease as the leading cause of mortality in Africa within the next two decades. Cancer is a group of genomic diseases that presents with intra- and inter-population unique phenotypes, with Black populations having the burden of morbidity and mortality for most types. At large, the prevention and treatment of cancers have been propelled by the understanding of the genetic make-up of the disease of mostly non-African populations. By the same token, there is a wide knowledge gap in understanding the underlying genetic causes of, and genomic alterations associated with, cancer among black Africans. Accordingly, we performed a review of the literature to survey existing studies on cancer genetics/genomics and curated findings pertaining to publications across multiple cancer types conducted on African populations. We used PubMed MeSH terms to retrieve the relevant publications from 1990 to December 2019. The metadata of these publications were extracted using R text mining packages: RISmed and Pubmed.mineR. The data showed that only 0.329% of cancer publications globally were on Africa, and only 0.016% were on cancer genetics/genomics from Africa. Although the most prevalent cancers in Africa are cancers of the breast, cervix, uterus, and prostate, publications representing breast, colorectal, liver, and blood cancers were the most frequent in our review. The most frequently reported cancer genes were BRCA1, BRCA2, and TP53. Next, the genes reported in the reviewed publications’ abstracts were extracted and annotated into three gene ontology classes. Genes in the cellular component class were mostly associated with cell part and organelle part, while those in biological process and molecular function classes were mainly associated with cell process, biological regulation, and binding, and catalytic activity, respectively. Overall, this review highlights the paucity of research on cancer genomics on African populations, identified gaps, and discussed the need for concerted efforts to encourage more research on cancer genomics in Africa.

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Section: Resultsmentioning

confidence: 99%

A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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“…Genetic testing of BC and OC has gained research momentum recently in the Middle East (Amemiya et al, ; Hagag, Shwaireb, Coffa, & El Wakil, ). In their review of BRCA1 mutations in the Middle East and North Africa (MENA) region, Laraqui et al concluded that the high prevalence of BC and the presence of frequent mutations of the BRCA1 gene emphasizes the need to improve screening programs and individual counseling (Laraqui et al, ).…”

Section: Discussionmentioning

confidence: 99%

Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie

Al‐Hussaini

Ammar

Kasasbeh

et al. 2019

Journal of Genetic Counseling

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Celebrities' health decisions have long been associated with heightened awareness and health trend changes. This is the first study conducted in an Arab population investigating the impact of international celebrity news on local communities using the case of Angelia Jolie's (AJ) prophylactic mastectomy and oophorectomy surgeries. The objective was to measure the effect of publicized medical information on cancer genetic testing knowledge, attitudes, and practices (KAP). This is a cross‐sectional study using a semi‐structured, self‐administered questionnaire for clinic visitors at the King Hussein Cancer Center (KHCC). We had predominantly female (n = 262, 66.3%) and healthy participants (n = 248, 66.5%). Approximately 80.7% (n = 330) recognized AJ, the actress, and of these, 71% (n = 232) were aware of her recent diagnosis and prophylactic surgeries. Males reported a higher knowledge score (p < .001). However, females had more initiative to seek information (18.3% vs. 10.1%; p = .04). People aware of Angelina's prophylactic procedures were inclined to seek information regarding cancer genetics (20.8% vs. 9.6% p = .003). Breast and ovarian cancer patients were more likely than other cancer patients to encourage family members to undergo prophylactic surgery in case of BRCA1/2 mutations (39.2% vs. 17.1% p = .03). Ninety‐three percent of the sample lacked knowledge regarding the availability of cancer genetic testing in Jordan. Results highlight a clear effect of celebrity medical news on our population, as well as openness to consider genetic testing as an early detection tool for women with a family history of breast and/or ovarian cancer. Generalization of these results to the population of Jordan requires further studies.

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“…Although pockets in the North and South of the continent have initiated genetic testing for BRCA mutations, genetic and genomic testing remains a philosophical discussion for most of the African continent. 75,76 The testing of genomics and transcriptomics largely lies beyond the scope of most laboratory facilities in developing countries.…”

Section: Application Of Breast Cancer Genomics In Developing Countriesmentioning

confidence: 99%

Gene-Expression-Based Predictors for Breast Cancer

2015

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An important and often complicated management decision in early stage hormone receptor (HR)-positive breast cancer relates to the use of adjuvant systemic chemotherapy. Although traditional clinicopathologic markers exist, tremendous progress has been achieved in the field of predictive biomarkers and genomics with both prognostic and predictive capabilities to identify patients who will potentially benefit from additional therapy. The use of these genomic tests in the neoadjuvant setting is also being studied and may lead to these tests providing clinical benefit even earlier in the disease course. Landmark articles published in the last few years have expanded our knowledge of breast cancer genomics to an unprecedented level, and mutational analysis via next-generation sequencing methods allows the identification of molecular targets for novel targeted therapeutic agents and clinical trials testing efficacy of targeted therapies, such as PI3K inhibitors, in addition to endocrine therapy for HR-positive breast cancer, are ongoing. We provide an in-depth review on the role of gene expression-based predictors in early stage breast cancer and an overview of future directions, including next-generation sequencing. Over the coming years, we anticipate a significant increase in utilization of genomic-based predictors for individualized selection and duration of endocrine therapy with and without genotype-driven targeted therapy, and a major decrease in the use of chemotherapy, possibly even leading to a chemotherapy-free road for early stage HR-positive breast cancer.

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Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients

Cited by 6 publications

References 25 publications

A Review of Cancer Genetics and Genomics Studies in Africa

A Review of Cancer Genetics and Genomics Studies in Africa

Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie

Gene-Expression-Based Predictors for Breast Cancer

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