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

Taru Muranen(University of Helsinki), Sofia Khan(Åbo Akademi University), Rainer Fagerholm(University of Helsinki), Kristiina Aittomäki(University of Helsinki), Julie M. Cunningham(Mayo Clinic in Arizona), Joe Dennis(University of Cambridge), Goska Leslie(University of Cambridge), Lesley McGuffog(University of Cambridge), Michael T. Parsons(QIMR Berghofer Medical Research Institute), Jacques Simard(Centre hospitalier universitaire de Québec), Susan Slager(Mayo Clinic in Florida), Penny Soucy(Centre hospitalier universitaire de Québec), Douglas F. Easton(University of Cambridge), Marc Tischkowitz(University of Cambridge), Amanda B. Spurdle(QIMR Berghofer Medical Research Institute), kConFab Investigators(University of Cologne), Rita K. Schmutzler(University of Cologne), Barbara Wappenschmidt(University of Cologne), Eric Hahnen(University of Cologne), Maartje J. Hooning(Comprehensive Cancer Center Vienna), HEBON Investigators(Comprehensive Cancer Center Vienna), Christian F. Singer(Odense University Hospital), Gabriel Wagner(Aalborg University Hospital), Mads Thomassen(Odense University Hospital), Inge Søkilde Pedersen(Aalborg University Hospital), Susan M. Domchek(Institut d'Investigació Biomédica de Bellvitge), Katherine L. Nathanson(Copenhagen University Hospital), Conxi Lázaro(Mount Sinai Hospital), Caroline Maria Rossing(Universidade do Porto), Irene L. Andrulis(The University of Melbourne), Manuel R. Teixeira(Universidade do Porto), Paul A. James(Peter MacCallum Cancer Centre), Judy E. Garber(Dana-Farber Cancer Institute), Jeffrey N. Weitzel(National Centre of Scientific Research "Demokritos"), SWE-BRCA Investigators(Stanford University), Anna Jakubowska(The University of Melbourne), Drakoulis Yannoukakos(National Centre of Scientific Research "Demokritos"), Esther M. John(University of Cambridge), Melissa C. Southey(The University of Melbourne), Marjanka K. Schmidt(University of Helsinki), Antonis C. Antoniou(University of Helsinki), Georgia Chenevix‐Trench(QIMR Berghofer Medical Research Institute), Carl Blomqvist(University of Helsinki), Heli Nevanlinna(University of Helsinki)
npj Breast Cancer
September 10, 2020
10.1038/s41523-020-00185-6
Cited by 10Open Access
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Abstract

Abstract 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 = 3.1 × 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.

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