Sirisena Nirmala Dushyanthi, Samaranayake Nilakshi, Dissanayake Vajira H W
Human Genetics Unit, Faculty of Medicine, University of Colombo, No. 25 Kynsey Road, Colombo 8, Sri Lanka.
Department of Parasitology, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.
BMC Res Notes. 2019 Jul 19;12(1):435. doi: 10.1186/s13104-019-4472-0.
The data presented herein represents the raw genotype data of a recently conducted larger study which investigated the association of single nucleotide polymorphisms (SNPs) in breast cancer related genes with the risk and clinicopathological profiles of sporadic breast cancer among Sri Lankan women. A case-control study design was adopted to conduct SNP marker disease association testing in an existing blood resource obtained from a cohort of Sri Lankan postmenopausal women with clinically phenotyped sporadic breast cancer and healthy postmenopausal women. The list of haplotype-tagging SNP markers for genotyping was selected based on information available in the published literature and use of bioinformatics tools and databases. Genotyping of 57 selected SNPs in 36 breast cancer related genes was performed using the iPLEX Sequenom Mass-Array platform.
The raw genotype data for the 57 SNPs genotyped in 350 women with breast cancer and 350 healthy women are presented in this article. This data might be relevant to other researchers involved in investigating the role of SNPs in breast cancer related genes with the risk of sporadic breast cancer in South Asian populations.
本文所呈现的数据代表了近期一项规模更大研究的原始基因型数据，该研究调查了乳腺癌相关基因中的单核苷酸多态性（SNP）与斯里兰卡女性散发性乳腺癌风险及临床病理特征之间的关联。采用病例对照研究设计，在从一组具有临床表型的散发性乳腺癌斯里兰卡绝经后女性和健康绝经后女性获取的现有血液资源中进行SNP标记物疾病关联测试。用于基因分型的单倍型标签SNP标记物列表是根据已发表文献中的信息以及生物信息学工具和数据库的使用情况选定的。使用iPLEX Sequenom Mass-Array平台对36个乳腺癌相关基因中的57个选定SNP进行基因分型。
本文展示了对350名乳腺癌女性和350名健康女性进行基因分型的57个SNP的原始基因型数据。该数据可能与其他研究人员相关，这些研究人员致力于调查南亚人群中SNP在乳腺癌相关基因中对散发性乳腺癌风险的作用。
