Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
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Published:2020-09-10
Issue:1
Volume:6
Page:
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ISSN:2374-4677
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Container-title:npj Breast Cancer
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language:en
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Short-container-title:npj Breast Cancer
Author:
Muranen Taru A.ORCID, Khan Sofia, Fagerholm Rainer, Aittomäki Kristiina, Cunningham Julie M.ORCID, Dennis JoeORCID, Leslie GoskaORCID, McGuffog Lesley, Parsons Michael T.ORCID, Simard JacquesORCID, Slager Susan, Soucy Penny, Easton Douglas F.ORCID, Tischkowitz Marc, Spurdle Amanda B.ORCID, Schmutzler Rita K., Wappenschmidt Barbara, Hahnen Eric, Hooning Maartje J., Singer Christian F., Wagner Gabriel, Thomassen Mads, Pedersen Inge SokildeORCID, Domchek Susan M., Nathanson Katherine L.ORCID, Lazaro ConxiORCID, Rossing Caroline Maria, Andrulis Irene L.ORCID, Teixeira Manuel R.ORCID, James PaulORCID, Garber Judy, Weitzel Jeffrey N.ORCID, Jakubowska AnnaORCID, Yannoukakos DrakoulisORCID, John Esther M., Southey Melissa C., Schmidt Marjanka K.ORCID, Antoniou Antonis C., Chenevix-Trench Georgia, Blomqvist Carl, Nevanlinna HeliORCID, , ,
Abstract
AbstractGermline 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 = 3.1 × 10−9). 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.
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Radiology Nuclear Medicine and imaging,Oncology
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