ArticleJournal of experimental & clinical cancer research : CR2010
Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection.
Article in Journal of experimental & clinical cancer research : CR, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Pooled it
- Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.BMC cancer · 2019Pooled it
- BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.Disease markers · 2015Pooled it
- Identification of BRCA1 and BRCA2 Germline Mutations in Female Breast Cancer Patients Using Next Generation Sequencing.Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Cost-effectiveness and budget impact of breast cancer genetic profiling in Egypt.Ecancermedicalscience · 2026Review
- Machine learning techniques to identify risk factors of breast cancer among women in Mashhad, Iran.Journal of preventive medicine and hygiene · 2024Article
- The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer.Oncology and therapy · 2023Review
- New Insights Into c.815_824dup Pathogenic Variant ofFrontiers in oncology · 2021Review
- PioneeringFrontiers in oncology · 2021Article
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.BMC cancer · 2020Article
- Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Evidence for an ancientNPJ genomic medicine · 2020Article
- Patterns and Prevalence of GermlineJournal of oncology · 2020Article
- Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.Journal of Cancer · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- Article
- BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.The oncologist · 2015Article
- Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.European journal of human genetics : EJHG · 2013Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBreast cancer is one of the most common diseases affecting women. Inherited susceptibility genes, BRCA1 and BRCA2, are considered in breast, ovarian and other common cancers etiology. BRCA1 and BRCA2 genes have been identified that confer a high degree of breast cancer risk.
objectiveOur study was performed to identify germline mutations in some exons of BRCA1 and BRCA2 genes for the early detection of presymptomatic breast cancer in females.
methodsThis study was applied on Egyptian healthy females who first degree relatives to those, with or without a family history, infected with breast cancer. Sixty breast cancer patients, derived from 60 families, were selected for molecular genetic testing of BRCA1 and BRCA2 genes. The study also included 120 healthy first degree female relatives of the patients, either sisters and/or daughters, for early detection of presymptomatic breast cancer mutation carriers. Genomic DNA was extracted from peripheral blood lymphocytes of all the studied subjects. Universal primers were used to amplify four regions of the BRCA1 gene (exons 2,8,13 and 22) and one region (exon 9) of BRCA2 gene using specific PCR. The polymerase chain reaction was carried out. Single strand conformation polymorphism assay and heteroduplex analysis were used to screen for mutations in the studied exons. In addition, DNA sequencing of the normal and mutated exons were performed.
resultsMutations in both BRCA1 and BRCA2 genes were detected in 86.7% of the families. Current study indicates that 60% of these families were attributable to BRCA1 mutations, while 26.7% of them were attributable to BRCA2 mutations. Results showed that four mutations were detected in the BRCA1 gene, while one mutation was detected in the BRCA2 gene. Asymptomatic relatives, 80 (67%) out of total 120, were mutation carriers.
conclusionsBRCA1 and BRCA2 genes mutations are responsible for a significant proportion of breast cancer. BRCA mutations were found in individuals with and without family history.
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