A1 Refereed original research article in a scientific journal
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
Authors: Taru A. Muranen, Sofia Khan, Rainer Fagerholm, Kristiina Aittomäki, Julie M. Cunningham, Joe Dennis, Goska Leslie, Lesley McGuffog, Michael T. Parsons, Jacques Simard, Susan Slager, Penny Soucy, Douglas F. Easton, Marc Tischkowitz, Amanda B. Spurdle; kConFab Investigators, Rita K. Schmutzler, Barbara Wappenschmidt, Eric Hahnen, Maartje J. Hooning; HEBON Investigators, Christian F. Singer, Gabriel Wagner, Mads Thomassen, Inge Sokilde Pedersen, Susan M. Domchek, Katherine L. Nathanson, Conxi Lazaro, Caroline Maria Rossing, Irene L. Andrulis, Manuel R. Teixeira, Paul James, Judy Garber, Jeffrey N. Weitzel; SWE-BRCA Investigators, Anna Jakubowska, Drakoulis Yannoukakos, Esther M. John, Melissa C. Southey, Marjanka K. Schmidt, Antonis C. Antoniou, Georgia Chenevix-Trench, Carl Blomqvist, Heli Nevanlinna
Publisher: NATURE PUBLISHING GROUP
Publication year: 2020
Journal: npj breast cancer
Journal name in source: NPJ BREAST CANCER
Journal acronym: NPJ BREAST CANCER
Article number: ARTN 44
Volume: 6
Issue: 1
Number of pages: 13
eISSN: 2374-4677
DOI: https://doi.org/10.1038/s41523-020-00185-6
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/50247166
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.
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