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

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http://hdl.handle.net/10138/319704

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kConFab Investigators , HEBON Investigators , SWE BRCA Investigators , Muranen , T A , Khan , S , Fagerholm , R , Aittomäki , K , Cunningham , J M , Blomqvist , C & Nevanlinna , H 2020 , ' Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer ' , Npj breast cancer , vol. 6 , no. 1 , 44 . https://doi.org/10.1038/s41523-020-00185-6

Title: Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
Author: kConFab Investigators; HEBON Investigators; SWE BRCA Investigators; Muranen, Taru A.; Khan, Sofia; Fagerholm, Rainer; Aittomäki, Kristiina; Cunningham, Julie M.; Blomqvist, Carl; Nevanlinna, Heli
Contributor: University of Helsinki, HUS Gynecology and Obstetrics
University of Helsinki, HUS Gynecology and Obstetrics
University of Helsinki, HUS Gynecology and Obstetrics
University of Helsinki, Medicum
University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, HUS Gynecology and Obstetrics
Date: 2020-09-10
Language: eng
Number of pages: 13
Belongs to series: Npj breast cancer
URI: http://hdl.handle.net/10138/319704
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=3.1x10(-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.
Subject: INTERNATIONAL EXPERT CONSENSUS
FALSE DISCOVERY
PRIMARY THERAPY
CELLS
EXPRESSION
REVEALS
OVARIAN
GENES
RISK
IDENTIFICATION
3122 Cancers
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