ArticleInternational journal of medical sciences2013
Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
Article in International journal of medical sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 65 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
- 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
- Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya.The Libyan journal of medicine · 2024Article
- Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS).American journal of translational research · 2024Article
- Double Heterozygosity for Rare Deleterious Variants in theInternational journal of molecular sciences · 2023Article
- Immunohistochemical Detection of the Expressed BRCA1 and BRCA2 Proteins in Microenvironment of Malignant Breast Cancerous Tissues Infected with Human Mammary Tumor Virus.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- Article
- Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.Breast cancer (Dove Medical Press) · 2023Article
- Screening of BRCA1/2 variants in Mauritanian breast cancer patients.BMC cancer · 2022Article
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.Breast cancer research and treatment · 2022Article
- Mutations in exon 11 (11.1 and 11.2) of theJournal of public health in Africa · 2022Article
- Prevalence of Clinically Relevant GermlineFrontiers in genetics · 2022Article
- Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.Frontiers in oncology · 2022Article
- Tracing ovarian cancer research in Morocco: A bibliometric analysis.Gynecologic oncology reports · 2021Article
- Identification of a novel pathogenic variant inJournal of genomics · 2021Article
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.BMC cancer · 2020Article
- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).BMC cancer · 2020Article
- Patterns and Prevalence of GermlineJournal of oncology · 2020Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Worldwide variation in the distribution of BRCA mutations is well recognised, and for the Moroccan population no comprehensive studies about BRCA mutation spectra or frequencies have been published. We therefore performed mutation analysis of the BRCA1 gene in 121 Moroccan women diagnosed with breast cancer. All cases completed epidemiology and family history questionnaires and provided a DNA sample for BRCA testing. Mutation analysis was performed by direct DNA sequencing of all coding exons and flanking intron sequences of the BRCA1 gene. 31.6 % (6/19) of familial cases and 1 % (1/102) of early-onset sporadic (< 45 years)were found to be associated with BRCA1 mutations. The pathogenic mutations included two frame-shift mutations (c.798_799delTT, c.1016dupA), one missense mutation (c.5095C>T),and one nonsense mutation (c.4942A>T). The c.798_799delTT mutation was also observed in Algerian and Tunisian BC families, suggesting the first non-Jewish founder mutation to be described in Northern Africa. In addition, ten different unclassified variants were detected in BRCA1, none of which were predicted to affect splicing. Most unclassified variants were placed in Align-GVGD classes suggesting neutrality. c.5117G>C involves a highly conserved amino acid suggestive of interfering with function (Align-GVGD class C55), but has been observed in conjunction with a deleterious mutation in a Tunisian family. These findings reflect the genetic heterogeneity of the Moroccan population and are relevant to genetic counselling and clinical management. The role of BRCA2 in BC is also under study.
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