乳腺癌是最常见的癌症，也是全世界女性癌症死亡的主要原因。全面了解乳腺癌危险因素及其发病率对于制定乳腺癌预防和控制规划是有用的信息。本研究旨在提供乳腺癌中单核苷酸多态性（SNP）和拷贝数变异（CNV）的信息、乳腺癌相关基因BRCA1 DNA修复相关（BRCA1；rs799917）和ATP结合盒中两个SNP的等位基因频率。 G 亚科成员 2（ABCG2；rs2231142），以及居住在泰国北部帕夭府正常人群中人乳头瘤病毒 (HPV) 感染的流行情况。通过全外显子组测序 (WES) 对 1 例乳腺癌样本和 10 例健康样本进行了研究，并比较了遗传变异。 WES 数据包含先前与乳腺癌有关的基因中的 S​​NP，并提供了 CNV 数据。还检查了 SNP rs799917 和 rs2231142 的等位基因频率。 rs799917 的 SNP 基因型频率为 35.88% CC、46.54% CT 和 17.58% TT，rs2231142 的 SNP 基因型频率为 33.20% CC、46.88% CA 和 19.92% AA。通过 PCR 检查了总共 825 份人类全血样本的 HPV 感染情况，并使用宏基因组测序对汇集的 DNA 进行了 HPV 感染检测。在所有 825 个样本或合并的血液样本中均未检测到 HPV 感染。根据可接受的乳腺癌危险因素和人口统计数据估计测试样本中乳腺癌的发病率为1.47%。本研究提供了乳腺癌相关基因中的 S​​NP 和 CNV 数据。由于杂合子和纯合子变异更为常见，因此应在病例对照研究中进一步研究 SNP rs2231142 和 rs799917 与乳腺癌之间的关联。根据血液样本中 HPV 感染的检测，HPV 可能与乳腺癌无关，至少在泰国北部人群中是如此。版权所有：© 2024 Bumrungthai 等人。

Breast cancer is the most prevalent cancer and also the leading cause of cancer death in women worldwide. A comprehensive understanding of breast cancer risk factors and their incidences is useful information for breast cancer prevention and control planning. The present study aimed to provide information on single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in breast cancer, the allele frequency of two SNPs in breast cancer-related genes BRCA1 DNA repair associated (BRCA1; rs799917) and ATP binding cassette subfamily G member 2 (ABCG2; rs2231142), and the prevalence of human papillomavirus (HPV) infections in a normal population living in Phayao Province, Northern Thailand. One breast cancer and 10 healthy samples were investigated by whole exome sequencing (WES) and compared for genetic variation. The WES data contained SNPs in genes previously implicated in breast cancer and provided data on CNVs. The allele frequencies for SNPs rs799917 and rs2231142 were also examined. The SNP genotype frequencies were 35.88% CC, 46.54% CT, and 17.58% TT for rs799917 and 33.20% CC, 46.88% CA, and 19.92% AA for rs2231142. A total of 825 human whole blood samples were examined for HPV infection by PCR, and the pooled DNA was tested for HPV infection using metagenomic sequencing. No HPV infections were detected among all 825 samples or the pooled blood samples. The incidence of breast cancer among the tested samples was estimated based on acceptable breast cancer risk factors and demographic data and was 1.47%. The present study provided data on SNPs and CNVs in breast cancer-related genes. The associations between SNPs rs2231142 and rs799917 and breast cancer should be further investigated in a case-control study since heterozygous and homozygous variants are more common. Based on the detection of HPV infection in the blood samples, HPV may not be associated with breast cancer, at least in the Northern Thai population.Copyright: © 2024 Bumrungthai et al.