ArticleBMC cancer2020
Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.Scientific reports · 2026Article
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.Breast cancer research and treatment · 2025Article
- Reproductive Risk Factor Patterns in Caribbean Women With Breast Cancer Across 4 Generations.JAMA network open · 2024Observational
- Smartphone-based imaging colorimetric assay for monitoring the quality of curcumin in turmeric powder.Analytical sciences : the international journal of the Japan Society for Analytical Chemistry · 2024Article
- A nomogram for predicting overall survival of breast cancer with regional lymph node metastasis in young women.Translational cancer research · 2024Article
- Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients.Breast cancer research and treatment · 2023Article
- Article
- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.Diagnostics (Basel, Switzerland) · 2022Article
- Article
- 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
- Prevalence of Clinically Relevant GermlineFrontiers in genetics · 2022Article
- Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.Journal of translational medicine · 2021Article
- Clinicopathological characteristics and treatment of young women with breast cancer in China: a nationwide multicenter 10-year retrospective study.Gland surgery · 2021Article
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10 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundTo date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco.
methodsThirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform.
resultsOverall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer.
conclusionOur data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.
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