Data from 19p13.1 is a Triple-Negative–Specific Breast Cancer Susceptibility Locus

Kristen N. Stevens,Zachary Fredericksen，Douglas F. Easton,Fergus J. Couch

crossref（2023）

Cited 0|Views59

Abstract

AbstractThe 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05–1.15; P = 3.49 × 10−5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13–1.31; P = 2.22 × 10−7). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89–1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18–1.33; P = 3.31 × 10−13]. Thus, 19p13.1 is the first triple-negative–specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways. Cancer Res; 72(7); 1795–803. ©2012 AACR.

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【要点】：研究发现19p13.1区域是第一个特异于三阴性乳腺癌的风险位点，该位点的变异与三阴性乳腺癌风险显著相关，为乳腺癌的遗传易感性分型提供了新的证据。

【方法】：研究利用了 Breast Cancer Association Consortium (BCAC) 中的48,869例乳腺癌病例和49,787例对照进行基因关联分析。

【实验】：通过分析BCAC和Triple Negative Breast Cancer Consortium (TNBCC)的数据，发现rs8170与三阴性乳腺癌风险存在显著关联（OR, 1.25；95% CI, 1.18–1.33；P = 3.31 × 10^-13）。当排除三阴性乳腺癌病例后，rs8170与ER阴性乳腺癌风险无显著关联。