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


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Authors
Khan, Sofia 
Fagerholm, Rainer 
Aittomäki, Kristiina 
Cunningham, Julie M.  ORCID logo  https://orcid.org/0000-0002-8159-3025
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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Keywords
Article, /692/4028/67/1347, /631/67/68, /631/208/205/2138, article
Journal Title
npj Breast Cancer
Conference Name
Journal ISSN
2374-4677
Volume Title
6
Publisher
Nature Publishing Group UK