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Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
- Source :
- Muranen, T A, Khan, S, Fagerholm, R, Aittomäki, K, Cunningham, J M, Dennis, J, Leslie, G, McGuffog, L, Parsons, M T, Simard, J, Slager, S, Soucy, P, Easton, D F, Tischkowitz, M, Spurdle, A B, kConFab Investigators, Schmutzler, R K, Wappenschmidt, B, Hahnen, E, Hooning, M J, HEBON Investigators, Singer, C F, Wagner, G, Thomassen, M, Pedersen, I S, Domchek, S M, Nathanson, K L, Lazaro, C, Rossing, C M, Andrulis, I L, Teixeira, M R, James, P, Garber, J, Weitzel, J N, SWE-BRCA Investigators, Jakubowska, A, Yannoukakos, D, John, E M, Southey, M C, Schmidt, M K, Antoniou, A C, Chenevix-Trench, G, 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, Muranen, T A, Khan, S, Fagerholm, R, Aittomäki, K, Cunningham, J M, Dennis, J, Leslie, G, McGuffog, L, Parsons, M T, Simard, J, Slager, S, Soucy, P, Easton, D F, Tischkowitz, M, Spurdle, A B, Schmutzler, R K, Wappenschmidt, B, Hahnen, E, Hooning, M J, Singer, C F, Wagner, G, Thomassen, M, Pedersen, I S, Domchek, S M, Nathanson, K L, Lazaro, C, Rossing, C M, Andrulis, I L, Teixeira, M R, James, P, Garber, J, Weitzel, J N, Jakubowska, A, Yannoukakos, D, John, E M, Southey, M C, Schmidt, M K, Antoniou, A C, Chenevix-Trench, G, Blomqvist, C, Nevanlinna, H, kConFab Investigators, HEBON Investigators & SWE-BRCA Investigators 2020, ' Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer ', npj Breast Cancer, vol. 6, 44 . https://doi.org/10.1038/s41523-020-00185-6, npj Breast Cancer, 6(1):44. Nature Publishing Group, Dipòsit Digital de la UB, Universidad de Barcelona, npj Breast Cancer, Vol 6, Iss 1, Pp 1-13 (2020), NPJ Breast Cancer
- Publication Year :
- 2020
-
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.
- Subjects :
- 0301 basic medicine
Oncology
Etiology
Genome-wide association study
Genome-wide association studies
Germline
0302 clinical medicine
Breast cancer
PRIMARY THERAPY
Pharmacology (medical)
skin and connective tissue diseases
Cancer genetics
RISK
medicine.diagnostic_test
Hazard ratio
article
INTERNATIONAL EXPERT CONSENSUS
Tumor Pathology
OVARIAN
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
3. Good health
030220 oncology & carcinogenesis
Etiologia
EXPRESSION
medicine.medical_specialty
GENES
3122 Cancers
631/208/205/2138
lcsh:RC254-282
Càncer de mama
03 medical and health sciences
SDG 3 - Good Health and Well-being
Internal medicine
631/67/68
Genetic variation
REVEALS
medicine
Radiology, Nuclear Medicine and imaging
Genetic testing
IDENTIFICATION
business.industry
FALSE DISCOVERY
Cancer
medicine.disease
030104 developmental biology
CELLS
692/4028/67/1347
business
Subjects
Details
- Language :
- English
- ISSN :
- 23744677
- Database :
- OpenAIRE
- Journal :
- Muranen, T A, Khan, S, Fagerholm, R, Aittomäki, K, Cunningham, J M, Dennis, J, Leslie, G, McGuffog, L, Parsons, M T, Simard, J, Slager, S, Soucy, P, Easton, D F, Tischkowitz, M, Spurdle, A B, kConFab Investigators, Schmutzler, R K, Wappenschmidt, B, Hahnen, E, Hooning, M J, HEBON Investigators, Singer, C F, Wagner, G, Thomassen, M, Pedersen, I S, Domchek, S M, Nathanson, K L, Lazaro, C, Rossing, C M, Andrulis, I L, Teixeira, M R, James, P, Garber, J, Weitzel, J N, SWE-BRCA Investigators, Jakubowska, A, Yannoukakos, D, John, E M, Southey, M C, Schmidt, M K, Antoniou, A C, Chenevix-Trench, G, 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, Muranen, T A, Khan, S, Fagerholm, R, Aittomäki, K, Cunningham, J M, Dennis, J, Leslie, G, McGuffog, L, Parsons, M T, Simard, J, Slager, S, Soucy, P, Easton, D F, Tischkowitz, M, Spurdle, A B, Schmutzler, R K, Wappenschmidt, B, Hahnen, E, Hooning, M J, Singer, C F, Wagner, G, Thomassen, M, Pedersen, I S, Domchek, S M, Nathanson, K L, Lazaro, C, Rossing, C M, Andrulis, I L, Teixeira, M R, James, P, Garber, J, Weitzel, J N, Jakubowska, A, Yannoukakos, D, John, E M, Southey, M C, Schmidt, M K, Antoniou, A C, Chenevix-Trench, G, Blomqvist, C, Nevanlinna, H, kConFab Investigators, HEBON Investigators & SWE-BRCA Investigators 2020, ' Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer ', npj Breast Cancer, vol. 6, 44 . https://doi.org/10.1038/s41523-020-00185-6, npj Breast Cancer, 6(1):44. Nature Publishing Group, Dipòsit Digital de la UB, Universidad de Barcelona, npj Breast Cancer, Vol 6, Iss 1, Pp 1-13 (2020), NPJ Breast Cancer
- Accession number :
- edsair.doi.dedup.....a4a9b318f5e628e5474d4bbd4fbfbf67