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

被引：3

作者：

Muranen, Taru A. ^{[1
]}

Khan, Sofia ^{[1
,2
,3
]}

Fagerholm, Rainer ^{[1
]}

Aittomaeki, Kristiina ^{[4
]}

Cunningham, Julie M. ^{[5
]}

Dennis, Joe ^{[6
]}

Leslie, Goska ^{[6
]}

McGuffog, Lesley ^{[6
]}

Parsons, Michael T. ^{[7
]}

Simard, Jacques ^{[8
]}

Slager, Susan ^{[9
]}

Soucy, Penny ^{[8
]}

Easton, Douglas F. ^{[6
,10
]}

Tischkowitz, Marc ^{[11
,12
,13
]}

Spurdle, Amanda B. ^{[7
]}

Schmutzler, Rita K. ^{[14
,15
,16
,17
]}

Wappenschmidt, Barbara ^{[14
,15
,16
,17
]}

Hahnen, Eric ^{[14
,15
,16
,17
]}

Hooning, Maartje J. ^{[18
]}

Singer, Christian F. ^{[19
]}

Wagner, Gabriel ^{[19
]}

Thomassen, Mads ^{[20
]}

Pedersen, Inge Sokilde ^{[21
,22
]}

Domchek, Susan M. ^{[23
]}

Nathanson, Katherine L. ^{[23
]}

Lazaro, Conxi ^{[24
]}

Rossing, Caroline Maria ^{[25
]}

Andrulis, Irene L. ^{[26
,27
]}

Teixeira, Manuel R. ^{[28
,29
]}

James, Paul ^{[30
,31
]}

Garber, Judy ^{[32
]}

Weitzel, Jeffrey N. ^{[33
]}

Jakubowska, Anna ^{[34
,35
]}

Yannoukakos, Drakoulis ^{[36
]}

John, Esther M. ^{[37
]}

Southey, Melissa C. ^{[38
,39
]}

Schmidt, Marjanka K. ^{[40
,41
]}

Antoniou, Antonis C. ^{[6
]}

Chenevix-Trench, Georgia ^{[7
]}

Blomqvist, Carl ^{[42
,43
]}

Nevanlinna, Heli ^{[1
]}

机构：

[1] Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland

[2] Univ Turku, Turku, Finland

[3] Abo Akad Univ, Turku Biosci Ctr, Turku, Finland

[4] Univ Helsinki, Dept Clin Genet, Helsinki Univ Hosp, Helsinki, Finland

[5] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[6] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[7] QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld, Australia

[8] CHU Quebec Res Ctr, Genom Ctr, Quebec City, PQ, Canada

[9] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

[10] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[11] McGill Univ, Program Canc Genet, Dept Human Genet, Montreal, PQ, Canada

[12] McGill Univ, Program Canc Genet, Dept Oncol, Montreal, PQ, Canada

[13] Univ Cambridge, Dept Med Genet, Natl Inst Hlth Res, Cambridge Biomed Res Ctr, Cambridge, England

[14] Univ Cologne, Ctr Hereditary Breast & Ovarian Canc, Fac Med, Cologne, Germany

[15] Univ Cologne, Ctr Hereditary Breast & Ovarian Canc, Univ Hosp Cologne, Cologne, Germany

[16] Univ Cologne, Ctr Mol Med Cologne CMMC, Fac Med, Cologne, Germany

[17] Univ Cologne, Ctr Mol Med Cologne CMMC, Univ Hosp Cologne, Cologne, Germany

[18] Erasmus MC Canc Inst, Dept Med Oncol, Family Canc Clin, Rotterdam, Netherlands

[19] Med Univ Vienna, Dept OB GYN & Comprehens Canc Ctr, Vienna, Austria

[20] Odense Univ Hosp, Dept Clin Genet, Odence C, Denmark

[21] Aalborg Univ Hosp, Mol Diagnost, Aalborg, Denmark

[22] Aalborg Univ, Dept Clin Med, Aalborg, Denmark

[23] Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

[24] CIBERONC, Mol Diagnost Unit, Hereditary Canc Program, ICOI DIBELL Bellvitge Biomed Res Inst,Catalan Ins, Barcelona, Spain

[25] Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark

[26] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada

[27] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[28] Portuguese Oncol Inst, Dept Genet, Porto, Portugal

[29] Univ Porto, Biomed Sci Inst ICBAS, Porto, Portugal

[30] Parkville Familial Canc Ctr, Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[31] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic, Australia

[32] Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02115 USA

[33] City Hope Natl Med Ctr, Clin Canc Gen, Duarte, CA USA

[34] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

[35] Pomeranian Med Univ, Independent Lab Mol Biol & Genet Diagnost, Szczecin, Poland

[36] INRASTES, Mol Diagnost Lab, Natl Ctr Sci Res Demokritos, Athens, Greece

[37] Stanford Univ, Stanford Canc Inst, Sch Med, Dept Med,Div Oncol, Stanford, CA 94305 USA

[38] Monash Univ, Precis Med, Sch Clin Sci, Monash Hlth, Clayton, Vic, Australia

[39] Univ Melbourne, Dept Clin Pathol, Melbourne, Vic, Australia

[40] Netherlands Canc Inst Antoni van Leeuwenhoek Hosp, Div Mol Pathol, Amsterdam, Netherlands

[41] Netherlands Canc Inst Antoni van Leeuwenhoek Hosp, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands

[42] Univ Helsinki, Dept Oncol, Helsinki Univ Hosp, Helsinki, Finland

[43] Orebro Univ Hosp, Dept Oncol, Orebro, Sweden

来源：

NPJ BREAST CANCER | 2020年 / 6卷 / 01期

基金：

美国国家卫生研究院; 英国医学研究理事会; 加拿大健康研究院;

关键词：

INTERNATIONAL EXPERT CONSENSUS; FALSE DISCOVERY; PRIMARY THERAPY; CELLS; EXPRESSION; REVEALS; OVARIAN; GENES; RISK; IDENTIFICATION;

D O I：

10.1038/s41523-020-00185-6

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：13

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