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布基纳法索乳腺癌相关基因第11外显子(11.1和11.2)的突变及危险因素

Mutations in exon 11 (11.1 and 11.2) of the gene and risk factors for breast cancer in Burkina Faso.

作者信息

Kiendrebeogo Isabelle Touwendpoulimdé, Zoure Abdou Azaque, Zongo Fabienne Ingrid, Ouattara Abdoul Karim, Ouedraogo Marie N L, Amegnona Jospin, Yonli Albert Théophane, Bayala Bagora, Zongo Nayi, Bambara Aboubacar Hierrhum, Sawadogo Alexis Yobi, Zohoncon Theodora M, Obiri-Yeboah Dorcas, Simpore Jacques

机构信息

Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, Ouagadougou, Burkina Faso.

Pietro Annigoni Biomolecular Research Center (CERBA), Ouagadougou, Burkina Faso.

出版信息

J Public Health Afr. 2022 May 25;13(1):1921. doi: 10.4081/jphia.2022.1921. eCollection 2022 May 24.

Abstract

Breast cancer is the leading cause of death among women in both developed and developing countries. It is multifactorial, including genetic predispositions such as oncogenic mutations on and 2 genes. The objectives of the present study were to identify oncogenic mutations in exon 11 of the gene and to determine the risk factors for breast cancer among women population in Burkina Faso. This study involved 100 women, including 50 cases of breast cancer and 50 controls (no clinical signs and no family history of breast cancer or other cancers). Mutations in the gene were detected by PCR using sequence primers specific for exon 11 fragments (11.1 and 11.2). In our study population, age (OR=22.40; CI: 4.33-115.82; p<0.001) and obesity (OR=4.23; CI: 1.64-10.92; p=0.003) were risk factors while multiparity was a protective factor for breast cancer (OR=0.35; CI: 0.15-0.81; p=0.02). A mutation was found on both fragments 11.1 and 11.2 of the gene exon 11 in 04/50 (8.0 %) of patients. No mutations were observed in controls. The present study revealed high frequency of oncogenic mutations in exon 11 fragments (11.1 and 11.2) of the gene. These mutations on exon 11 are and involved in the occurrence of breast cancer in our population. Age and obesity were also risk factors for breast cancer among women population in Burkina Faso.

摘要

乳腺癌是发达国家和发展中国家女性死亡的主要原因。它是多因素的,包括遗传易感性,如17号和2号基因上的致癌突变。本研究的目的是鉴定17号基因外显子11中的致癌突变,并确定布基纳法索女性人群中乳腺癌的危险因素。本研究涉及100名女性,包括50例乳腺癌患者和50名对照(无临床症状且无乳腺癌或其他癌症家族史)。使用针对外显子11片段(11.1和11.2)的序列引物通过PCR检测17号基因中的突变。在我们的研究人群中,年龄(OR=22.40;CI:4.33-115.82;p<0.001)和肥胖(OR=4.23;CI:1.64-10.92;p=0.003)是危险因素,而多产是乳腺癌的保护因素(OR=0.35;CI:0.15-0.81;p=0.02)。在50名患者中的4名(8.0%)患者的17号基因外显子11的11.1和11.2片段上均发现了突变。在对照中未观察到突变。本研究揭示了17号基因外显子11片段(11.1和11.2)中致癌突变的高频率。外显子11上的这些突变与我们人群中乳腺癌的发生有关。年龄和肥胖也是布基纳法索女性人群中乳腺癌的危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db65/9202467/8016ddbdd2dd/jpha-13-1-1921-g001.jpg

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