Benign polymorphisms in the BRCA genes with linkage disequilibrium is associated with cancer characteristics.

IF 5.7 2区 医学 Q1 Medicine Cancer Science Pub Date : 2024-10-12 DOI:10.1111/cas.16364
Kuo-Ting Lee, Dao-Peng Chen, Zhu-Jun Loh, Wei-Pang Chung, Chih-Yang Wang, Pai-Sheng Chen, Chun Hei Antonio Cheung, Chih-Peng Chang, Hui-Ping Hsu
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Abstract

Germline pathogenic mutation of the BRCA gene increases the prevalence of breast cancer. Reports on the benign variants of BRCA genes are limited. However, the definition of these variants might be altered with the accumulation of clinical evidence. Therefore, in the present study, we focused on benign single nucleotide polymorphisms (SNPs) of BRCA genes. Linkage disequilibrium was calculated from whole genome sequencing of the BRCA genes obtained from 500 healthy controls and 49 breast cancer patients. Sanger sequencing was used to confirm the mutation. The linkage disequilibrium was noted for seven and three SNPs in the BRCA1 and BRCA2 genes, respectively. Breast cancer with BRCA1/2 linkage disequilibrium was not correlated with a personal history of benign diseases or family history of cancer. Nevertheless, breast cancer with BRCA1 linkage disequilibrium was correlated with high tumor-infiltrating lymphocytes and positive extensive intraductal components. The patients with BRCA1 linkage disequilibrium tended to have worse disease-specific survival. Cancers with BRCA2 linkage disequilibrium are associated with a lower ratio of grade III cancer. Moreover, patients with BRCA2 linkage disequilibrium tended to have better overall survival. In conclusion, linkage disequilibrium from benign SNPs of the BRCA genes potentially affects cancer characteristics.

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具有连锁不平衡的 BRCA 基因中的良性多态性与癌症特征相关。
BRCA 基因的种系致病突变会增加乳腺癌的发病率。有关 BRCA 基因良性变异的报道很有限。然而,随着临床证据的积累,这些变异的定义可能会发生变化。因此,在本研究中,我们重点研究了 BRCA 基因的良性单核苷酸多态性(SNPs)。通过对 500 名健康对照者和 49 名乳腺癌患者的 BRCA 基因进行全基因组测序,计算出连锁不平衡。桑格测序用于确认突变。发现 BRCA1 和 BRCA2 基因中分别有 7 个和 3 个 SNP 存在连锁不平衡。带有 BRCA1/2 连接不平衡的乳腺癌与个人良性疾病史或癌症家族史无关。然而,BRCA1连锁不平衡的乳腺癌与高肿瘤浸润淋巴细胞和广泛导管内成分阳性有关。具有 BRCA1 连接不平衡的患者的疾病特异性生存率往往较低。具有 BRCA2 连接不平衡的癌症与 III 级癌症比例较低有关。此外,具有 BRCA2 连接不平衡的患者的总生存率往往更高。总之,BRCA 基因良性 SNP 的连锁不平衡可能会影响癌症的特征。
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来源期刊
Cancer Science
Cancer Science ONCOLOGY-
CiteScore
9.90
自引率
3.50%
发文量
406
审稿时长
17 weeks
期刊介绍: Cancer Science (formerly Japanese Journal of Cancer Research) is a monthly publication of the Japanese Cancer Association. First published in 1907, the Journal continues to publish original articles, editorials, and letters to the editor, describing original research in the fields of basic, translational and clinical cancer research. The Journal also accepts reports and case reports. Cancer Science aims to present highly significant and timely findings that have a significant clinical impact on oncologists or that may alter the disease concept of a tumor. The Journal will not publish case reports that describe a rare tumor or condition without new findings to be added to previous reports; combination of different tumors without new suggestive findings for oncological research; remarkable effect of already known treatments without suggestive data to explain the exceptional result. Review articles may also be published.
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