TY - JOUR
T1 - Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
AU - Muranen, Taru A
AU - Khan, Sofia
AU - Fagerholm, Rainer
AU - Aittomäki, Kristiina
AU - Cunningham, Julie M
AU - Dennis, Joe
AU - Leslie, Goska
AU - McGuffog, Lesley
AU - Parsons, Michael T
AU - Simard, Jacques
AU - Slager, Susan
AU - Soucy, Penny
AU - Easton, Douglas F
AU - Tischkowitz, Marc
AU - Spurdle, Amanda B
AU - Schmutzler, Rita K
AU - Wappenschmidt, Barbara
AU - Hahnen, Eric
AU - Hooning, Maartje J
AU - Singer, Christian F
AU - Wagner, Gabriel
AU - Thomassen, Mads
AU - Pedersen, Inge Sokilde
AU - Domchek, Susan M
AU - Nathanson, Katherine L
AU - Lazaro, Conxi
AU - Rossing, Caroline Maria
AU - Andrulis, Irene L
AU - Teixeira, Manuel R
AU - James, Paul
AU - Garber, Judy
AU - Weitzel, Jeffrey N
AU - Jakubowska, Anna
AU - Yannoukakos, Drakoulis
AU - John, Esther M
AU - Southey, Melissa C
AU - Schmidt, Marjanka K
AU - Antoniou, Antonis C
AU - Chenevix-Trench, Georgia
AU - Blomqvist, Carl
AU - Nevanlinna, Heli
AU - kConFab investigators
N1 - © The Author(s) 2020.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
U2 - 10.1038/s41523-020-00185-6
DO - 10.1038/s41523-020-00185-6
M3 - Journal article
C2 - 32964118
SN - 2374-4677
VL - 6
SP - 44
JO - Current Medical Literature. Breast Cancer
JF - Current Medical Literature. Breast Cancer
ER -