Muranen Taru A, Khan Sofia, Fagerholm Rainer, Aittomäki Kristiina, Cunningham Julie M, Dennis Joe, Leslie Goska, McGuffog Lesley, Parsons Michael T, Simard Jacques, Slager Susan, Soucy Penny, Easton Douglas F, Tischkowitz Marc, Spurdle Amanda B, Schmutzler Rita K, Wappenschmidt Barbara, Hahnen Eric, Hooning Maartje J, Singer Christian F, Wagner Gabriel, Thomassen Mads, Pedersen Inge Sokilde, Domchek Susan M, Nathanson Katherine L, Lazaro Conxi, Rossing Caroline Maria, Andrulis Irene L, Teixeira Manuel R, James Paul, Garber Judy, Weitzel Jeffrey N, Jakubowska Anna, Yannoukakos Drakoulis, John Esther M, Southey Melissa C, Schmidt Marjanka K, Antoniou Antonis C, Chenevix-Trench Georgia, Blomqvist Carl, Nevanlinna Heli
University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
University of Turku and Åbo Akademi University, Turku Bioscience Centre, Turku, Finland.
NPJ Breast Cancer. 2020 Sep 10;6:44. doi: 10.1038/s41523-020-00185-6. eCollection 2020.
Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants in or genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, = 3.1 × 10). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.
种系基因变异已被认为可独立于肿瘤病理影响乳腺癌患者的生存。我们研究了两组病因独特的乳腺癌患者的基因变异与生存的关联，即携带BRCA1或BRCA2基因种系致病变异的患者。我们发现，rs57025206与总生存显著相关，预测雌激素受体阴性乳腺癌的BRCA2携带者患者死亡率更高，风险比为4.37（95%置信区间3.03 - 6.30，P = 3.1×10⁻⁵）。针对肿瘤特征进行调整的多变量分析表明，rs57025206是一个独立的生存标志物。此外，我们的探索性分析表明，基因变异与乳腺癌患者生存之间的关联可能取决于肿瘤生物学亚组和临床患者特征。
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