Academic Journal

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

التفاصيل البيبلوغرافية
العنوان: Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
المؤلفون: Lázaro García, Conxi, SWE-BRCA Group
المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
بيانات النشر: Nature Publishing Group
سنة النشر: 2020
المجموعة: Dipòsit Digital de la Universitat de Barcelona
مصطلحات موضوعية: Càncer de mama, Etiologia, Breast cancer, Etiology
الوصف: 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 BRCA1 or BRCA2 genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of BRCA1 carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, P=3.1x10(-9)). 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.
نوع الوثيقة: article in journal/newspaper
وصف الملف: 13 p.; application/pdf
اللغة: English
Relation: Reproducció del document publicat a: https://doi.org/10.1038/s41523-020-00185-6; npj Breast Cancer, 2020, vol. 6; https://doi.org/10.1038/s41523-020-00185-6; http://hdl.handle.net/2445/173408
الاتاحة: http://hdl.handle.net/2445/173408
Rights: cc by (c) Muranen et al., 2020 ; http://creativecommons.org/licenses/by/3.0/es/ ; info:eu-repo/semantics/openAccess
رقم الانضمام: edsbas.571487D7
قاعدة البيانات: BASE