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

التفاصيل البيبلوغرافية
العنوان: Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
بيانات النشر: Nature Research (E-mail: subscriptions@nature.com) United Kingdom 2020-09-26
تفاصيل مُضافة: Simard J.
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.
Muranen T.A.
Khan S.
Fagerholm R.
Aittomaki K.
Cunningham J.M.
Dennis J.
Leslie G.
McGuffog L.
Parsons M.T.
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.
نوع الوثيقة: Electronic Resource
مستخلص: 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 x 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.Copyright © 2020, The Author(s).
مصطلحات الفهرس: BRCA1 protein/ec [Endogenous Compound], aged, article, breast cancer, cancer staging, cancer survival, copy number variation, epigenetics, estrogen receptor negative breast cancer, female, follow up, gene cluster, gene expression, gene frequency, gene identification, genetic analysis, genetic association, genetic susceptibility, genetic variation, genome-wide association study, genotype, human, human tissue, overall survival, priority journal, protein expression, sensitivity analysis, signal transduction, single nucleotide polymorphism, survival analysis, tumor suppressor gene, tumor volume, BRCA2 protein/ec [Endogenous Compound], estrogen receptor/ec [Endogenous Compound], messenger RNA/ec [Endogenous Compound], progesterone receptor/ec [Endogenous Compound], transcription factor GATA 3/ec [Endogenous Compound], Article
URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/29081
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الإتاحة: Open access content. Open access content
Copyright 2020 Elsevier B.V., All rights reserved.
أرقام أخرى: AUSHL oai:repository.monashhealth.org:1/29081
npj Breast Cancer. 6 (1) (no pagination), 2020. Article Number: 44. Date of Publication: 01 Dec 2020.
2374-4677 (electronic)
https://repository.monashhealth.org/monashhealthjspui/handle/1/29081
Muranen, Taru A.; ORCID: http://orcid.org/0000-0002-5895-1808 Nevanlinna, Heli; ORCID: http://orcid.org/0000-0002-0916-2976 Cunningham, Julie M.; ORCID: http://orcid.org/0000-0002-8159-3025 Dennis, Joe; ORCID: http://orcid.org/0000-0003-4591-1214 Leslie, Goska; ORCID: http://orcid.org/0000-0001-5756-6222 Easton, Douglas F.; ORCID: http://orcid.org/0000-0003-2444-3247 Parsons, Michael T.; ORCID: http://orcid.org/0000-0003-3242-8477 Spurdle, Amanda B.; ORCID: http://orcid.org/0000-0003-1337-7897 Simard, Jacques; ORCID: http://orcid.org/0000-0001-6906-3390 Pedersen, Inge Sokilde; ORCID: http://orcid.org/0000-0002-9902-8040 Nathanson, Katherine L.; ORCID: http://orcid.org/0000-0002-6740-0901 Lazaro, Conxi; ORCID: http://orcid.org/0000-0002-7198-5906 Andrulis, Irene L.; ORCID: http://orcid.org/0000-0002-4226-6435 Teixeira, Manuel R.; ORCID: http://orcid.org/0000-0002-4896-5982 James, Paul; ORCID: http://orcid.org/0000-0002-4361-4657 Weitzel, Jeffrey N.; ORCID: http://orcid.org/0000-0001-6714-092X Jakubowska, Anna; ORCID: http://orcid.org/0000-0002-5650-0501 Yannoukakos, Drakoulis; ORCID: http://orcid.org/0000-0001-7509-3510 Schmidt, Marjanka K.; ORCID: http://orcid.org/0000-0002-2228-429X
2006125768
(Muranen, Khan, Fagerholm, Nevanlinna) University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland (Khan) University of Turku and Abo Akademi University, Turku Bioscience Centre, Turku, Finland (Aittomaki) University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland (Cunningham) Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, United States (Dennis, Leslie, McGuffog, Easton, Antoniou) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, United Kingdom (Parsons, Spurdle, Chenevix-Trench) QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia (Simard, Soucy) CHU de Quebec Research Center, Genomics Center, Quebec City, QC, Canada (Slager) Mayo Clinic, Department of Health Sciences Research, Rochester, MN, United States (Easton) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, United Kingdom (Tischkowitz) McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montreal, QC, Canada (Tischkowitz) University of Cambridge, Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom (Schmutzler, Wappenschmidt, Hahnen) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany (Schmutzler, Wappenschmidt, Hahnen) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany (Hooning) Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, Netherlands (Singer, Wagner) Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria (Thomassen) O
Muranen T.A.; taru.a.muranen@helsinki.fi
1305123219
المصدر المساهم: MONASH HEALTH LIBRS
From OAIster®, provided by the OCLC Cooperative.
رقم الأكسشن: edsoai.on1305123219
قاعدة البيانات: OAIster
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