阿尔及利亚东部首次筛选外显子5 PTEN基因的种系变异及其对三阴性乳腺癌的贡献

Q2 Medicine

Asian Pacific Journal of Cancer Prevention Pub Date : 2025-06-01 DOI:10.31557/APJCP.2025.26.6.1977

Souad Haddad, Karim Chekroud, Housna Zidoune, Ali Boumegoura, Abdelhak Lakehal, Djalila Chellat-Rezgoune, Dalila Satta, Noureddine Abadi

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引用次数: 0

摘要

目的：三阴性乳腺癌（Triple negative breast cancer， TNBC）是最具侵袭性的乳腺癌亚型，具有年龄小、肿瘤大小大、肿瘤分级高、肿瘤复发及死亡风险高的特点。PTEN是一种肿瘤抑制基因，已被分析其在TNBC易感性中的作用。本研究的目的是筛选阿尔及利亚TNBC患者PTEN基因外显子5的种系变异，并评估其与TNBC临床特征的关系。方法：对来自阿尔及利亚东部不同地区的69例TNBC患者进行PTEN基因外显子5种系变异分析，其中6例（8.69%）有乳腺癌家族史。取外周血标本，用盐饱和法从白细胞中提取基因组DNA。PCR扩增外显子5并测序。结果序列与GenBank中可用的参考序列比对。所有检测到的变异都使用Ensembl数据库进行注释，并根据其REVEL评分预测其致病性。结果：69例患者中27例（39.13%）发现30种不同的变异。预测6个错义变异可能是良性的，24个变异可能是致病性的。其中错义变异19个，无义变异2个，移码变异3个，其中缺失1个，新插入2个。17例患者存在1 ~ 4种致病性变异。在有乳腺癌家族史的患者中未发现致病性变异。致病变异与TNBC患者临床特征的相关性无统计学意义。结论：阿尔及利亚人群中发现的致病性变异频率高于其他人群；然而，它们与TNBC易感性无关。

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First Screening For Germline Variations In Exon 5 PTEN Gene and Their Contribution to Triple Negative Breast Cancer in Eastern Algeria.

Objective: Triple negative breast cancer (TNBC) is the most aggressive breast cancer subtype associated with younger age, bigger tumor size, high grade tumor, high risk of tumor recurrence and death. PTEN is one of the tumor suppressor genes that have been analyzed to provide its role in predisposition to TNBC. The aim of this study was to screen germline variants in exon 5 of the PTEN gene in Algerian TNBC patients and to assess their association with the clinical characteristics of TNBC.

Methods: 69 TNBC patients coming from different regions of eastern Algeria were analyzed for germline variants in exon 5 of the PTEN gene, among them 6 patients (8.69%) had a family history of breast cancer. Peripheral blood samples were obtained and genomic DNA was extracted from leukocytes using the salt-saturation method. Exon 5 was amplified by PCR and then sequenced. The resulted sequences were aligned against the reference sequence available in GenBank. All detected variants were annotated using the Ensembl database and their pathogenicity was predicted according to their REVEL scores.

Results: 30 different variants in 27 (39.13%) of the 69 patients were identified. 6 missense variants were predicted to be likely benign and 24 variants were predicted to be pathogenic. Among them, 19 were missense variants, 2 were nonsense variants and 3 were frameshift variants, including 1 deletion and 2 novel insertions. The pathogenic variants occurred in 17 patients, who harbored between 1 and 4 pathogenic variants. No pathogenic variants were found in patients with a family history of breast cancer. The correlation between pathogenic variants and the clinical characteristics of TNBC patients was statistically insignificant. Conclusion: The frequency of pathogenic variants identified in the Algerian population is higher than that in other populations; however, they are not associated with susceptibility to TNBC.

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来源期刊

Asian Pacific Journal of Cancer Prevention 医学-肿瘤学

CiteScore

2.80

自引率

0.00%

发文量

779

审稿时长

3 months

期刊介绍： Cancer is a very complex disease. While many aspects of carcinoge-nesis and oncogenesis are known, cancer control and prevention at the community level is however still in its infancy. Much more work needs to be done and many more steps need to be taken before effective strategies are developed. The multidisciplinary approaches and efforts to understand and control cancer in an effective and efficient manner, require highly trained scientists in all branches of the cancer sciences, from cellular and molecular aspects to patient care and palliation. The Asia Pacific Organization for Cancer Prevention (APOCP) and its official publication, the Asia Pacific Journal of Cancer Prevention (APJCP), have served the community of cancer scientists very well and intends to continue to serve in this capacity to the best of its abilities. One of the objectives of the APOCP is to provide all relevant and current scientific information on the whole spectrum of cancer sciences. They aim to do this by providing a forum for communication and propagation of original and innovative research findings that have relevance to understanding the etiology, progression, treatment, and survival of patients, through their journal. The APJCP with its distinguished, diverse, and Asia-wide team of editors, reviewers, and readers, ensure the highest standards of research communication within the cancer sciences community across Asia as well as globally. The APJCP publishes original research results under the following categories: -Epidemiology, detection and screening. -Cellular research and bio-markers. -Identification of bio-targets and agents with novel mechanisms of action. -Optimal clinical use of existing anti-cancer agents, including combination therapies. -Radiation and surgery. -Palliative care. -Patient adherence, quality of life, satisfaction. -Health economic evaluations.