ArticleMolecular genetics & genomic medicine2020
Screening of germline mutations in young Rwandan patients with breast cancers.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Article
- Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.NPJ genomic medicine · 2024Article
- The spectrum of TP53 mutations in Rwandan patients with gastric cancer.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2024Article
- Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.Seminars in oncology · 2023Review
- Breast Cancer Germline Genetic Counseling and Testing for Populations of African Heritage Globally: A Scoping Review on Research, Practice, and Bioethical Considerations.JCO global oncology · 2023Article
- Clinicopathological Characteristics and Mutational Landscape ofCurrent issues in molecular biology · 2023Article
- Screening of germline mutations in young Rwandan patients with breast cancers.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
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Abstract
backgroundIn Sub-Saharan Africa breast cancer is commonly detected at younger age and the profile is more aggressive with a high mortality rate compared to the European countries. It is suggested that African-specific genetic background plays a key role in this matter. The present study aimed at understanding the role of genetic factors in breast cancer development in young Rwandan.
methodsWe performed a massive parallel sequencing on Illumina MiSeq NGS system for the screening of 26 genes associated with hereditary breast cancer from 40 patients under 35 years old from two University Teaching Hospitals in Kigali, Rwanda. Sanger sequencing was used to confirm pathogenic and likely pathogenic mutations.
resultsFive patients out of 40 (12.5%) presented with pathogenic mutations including four patients (10%) carrying BRCA1 or BRCA2 pathogenic variants. One patient showed a missense likely pathogenic TP53 variant. We have also detected additional missense, intronic, and 3'UTR variants of unknown significance in all study participants.
conclusionThis preliminary study suggests that the frequency of germline mutations in young Rwandan patients with breast cancer is similar to the observations made in Caucasians. However, further large studies including patients and controls are needed to better understand the impact of genetic factors as well as the environmental risk factors in the development of breast cancer in young Rwandans.
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