PDF(Pubmed)
Abstract：
UNASSIGNED: triple-negative breast cancer (TNBC) is a heterogeneous breast cancer type with a poor prognosis. About 25% of TNBC patients carry breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations. Screening for BRCA mutations would facilitate early detection and initiation of personalized therapy, thus improving prognosis. However, this has not been explored in our population. We aimed at identifying BRCA1 and BRCA2 gene mutations and their clinical relevance among selected women with TNBC in Kenya.
UNASSIGNED: six participants enrolled in a larger descriptive cross-sectional study who met the inclusion criteria were selected. Structured questionnaires were used to obtain qualitative data. Deoxyribonucleic acid (DNA) was extracted from saliva. Whole exome sequencing of BRCA1 and BRCA2 genes using a next-generation sequencer was done.
UNASSIGNED: overall, 83.3% of BRCA1 and BRCA2 gene mutations with clinical relevance were detected. Most of the variants (63%) were found in BRCA1 whereas 37% were found in BRCA2. Pathogenic mutations in BRCA1 gene included c.5513T>A, c.5291T>C, c.5297T>G, c.110C>A, c.5212G>C, c.122A>C, c.5117G>A, c.5095C>T, c.5054C>T, c.5053A>G, c.115T>A, c.5143A>G, and c.130T>G. Those in BRCA2 gene were c.7878G>A, c.9154C>T, c.8243G>A, c.7976G>A, c.8165C>G, c.8167G>C, and c.8168A>T. One variant (c.5352delG: p. Leu1785Terfs) not matching any in the BRCA Exchange and ClinVar databases was detected.
UNASSIGNED: our study revealed BRCA mutations that could be common among our population. Further, it has shown that BRCA1 and BRCA2 genetic mutations identified are of clinical relevance and there is a need to screen for these mutations in breast cancer patients to understand their implication in patient management outcomes.
UNASSIGNED: six participants enrolled in a larger descriptive cross-sectional study who met the inclusion criteria were selected. Structured questionnaires were used to obtain qualitative data. Deoxyribonucleic acid (DNA) was extracted from saliva. Whole exome sequencing of BRCA1 and BRCA2 genes using a next-generation sequencer was done.
UNASSIGNED: overall, 83.3% of BRCA1 and BRCA2 gene mutations with clinical relevance were detected. Most of the variants (63%) were found in BRCA1 whereas 37% were found in BRCA2. Pathogenic mutations in BRCA1 gene included c.5513T>A, c.5291T>C, c.5297T>G, c.110C>A, c.5212G>C, c.122A>C, c.5117G>A, c.5095C>T, c.5054C>T, c.5053A>G, c.115T>A, c.5143A>G, and c.130T>G. Those in BRCA2 gene were c.7878G>A, c.9154C>T, c.8243G>A, c.7976G>A, c.8165C>G, c.8167G>C, and c.8168A>T. One variant (c.5352delG: p. Leu1785Terfs) not matching any in the BRCA Exchange and ClinVar databases was detected.
UNASSIGNED: our study revealed BRCA mutations that could be common among our population. Further, it has shown that BRCA1 and BRCA2 genetic mutations identified are of clinical relevance and there is a need to screen for these mutations in breast cancer patients to understand their implication in patient management outcomes.
摘要：
■三阴性乳腺癌（TNBC）是一种异质性乳腺癌类型，预后不良。约25%的TNBC患者携带乳腺癌易感基因1和2(BRCA1和BRCA2)突变。筛查BRCA突变将有助于早期发现和启动个性化治疗。从而改善预后。然而,这还没有在我们的人口中探索过。我们旨在确定BRCA1和BRCA2基因突变及其在肯尼亚TNBC患者中的临床相关性。
■选择了符合纳入标准的6名参加大型描述性横断面研究的参与者。采用结构化问卷获取定性数据。从唾液中提取脱氧核糖核酸(DNA)。使用下一代测序仪完成BRCA1和BRCA2基因的全外显子组测序。
■总体上，83.3%的BRCA1和BRCA2基因突变与临床相关。大多数变体（63％）在BRCA1中发现，而37％在BRCA2中发现。BRCA1基因的致病突变包括c.5513T>A，c.5291T>C，c.5297T>G，c.110C>A，c.5212G>C，c.122A>C，c.5117G>A，c.5095C>T，c.5054C>T，c.5053A>G，c.115T>A，c.5143A>G，c.130T>GBRCA2基因的c.7878G>A，c.9154C>T，c.8243G>A，c.7976G>A，c.8165C>G，c.8167G>C，c.8168A>T.检测到一个变体(c.5352delG:p.Leu1785Terfs)与BRCAExchange和ClinVar数据库中的任何变体不匹配。
■我们的研究揭示了BRCA突变可能在我们的人群中很常见。Further,研究表明,鉴定出的BRCA1和BRCA2基因突变具有临床相关性,因此需要在乳腺癌患者中筛查这些突变,以了解其在患者治疗结局中的意义.
■选择了符合纳入标准的6名参加大型描述性横断面研究的参与者。采用结构化问卷获取定性数据。从唾液中提取脱氧核糖核酸(DNA)。使用下一代测序仪完成BRCA1和BRCA2基因的全外显子组测序。
■总体上，83.3%的BRCA1和BRCA2基因突变与临床相关。大多数变体（63％）在BRCA1中发现，而37％在BRCA2中发现。BRCA1基因的致病突变包括c.5513T>A，c.5291T>C，c.5297T>G，c.110C>A，c.5212G>C，c.122A>C，c.5117G>A，c.5095C>T，c.5054C>T，c.5053A>G，c.115T>A，c.5143A>G，c.130T>GBRCA2基因的c.7878G>A，c.9154C>T，c.8243G>A，c.7976G>A，c.8165C>G，c.8167G>C，c.8168A>T.检测到一个变体(c.5352delG:p.Leu1785Terfs)与BRCAExchange和ClinVar数据库中的任何变体不匹配。
■我们的研究揭示了BRCA突变可能在我们的人群中很常见。Further,研究表明,鉴定出的BRCA1和BRCA2基因突变具有临床相关性,因此需要在乳腺癌患者中筛查这些突变,以了解其在患者治疗结局中的意义.
