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

共 50 条

[21] Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
Jasmine Sukumar
Mahmoud Kassem
Doreen Agnese
Robert Pilarski
Bhuvaneswari Ramaswamy
Kevin Sweet
Sagar Sardesai
Breast Cancer Research and Treatment, 2021, 186 : 569 - 575
[22] Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
Sukumar, Jasmine
Kassem, Mahmoud
Agnese, Doreen
Pilarski, Robert
Ramaswamy, Bhuvaneswari
Sweet, Kevin
Sardesai, Sagar
BREAST CANCER RESEARCH AND TREATMENT, 2021, 186 (02) : 569 - 575
[23] The Clinical, Pathological and Molecular Features of Breast Cancer with Pathogenic Germline Variants Other Than BRCA1/2
Wang, Xi
Cole, Kimberly
Harigopal, Malini
Finberg, Karin
Walther, Zenta
Zhong, Minghao
MODERN PATHOLOGY, 2021, 34 (SUPPL 2) : 163 - 164
[24] Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru
Ferreyra, Yomali
Rosas, Gina
Cock-Rada, Alicia M.
Araujo, Jhajaira
Bravo, Leny
Doimi, Franco
Casas, Jhoysi
Clavo, Maria de los Angeles
Pinto, Joseph A.
Belmar-Lopez, Carolina
FRONTIERS IN ONCOLOGY, 2023, 13
[25] Germline Pathogenic Variants in BRCA1 and BRCA2: Malignancies Beyond Female Breast and Ovarian Cancers
Lieberman, Sari
Goldvaser, Hadar
Levy-Lahad, Ephrat
JOURNAL OF CLINICAL ONCOLOGY, 2022, 40 (14) : 1590 - +
[26] Survival in breast cancer associated with germline mutations of BRCA1
Verhooq, LC
Seynaeve, C
vanderBosch, LMC
Brekelmans, CTM
vanGeel, AN
Wagner, A
MeijersHeijboer, EJ
vanderOuweland, A
Devilee, P
Klijn, JGM
EUROPEAN JOURNAL OF CANCER, 1997, 33 : 11 - 11
[27] Association of Risk-Reducing Salpingo-Oophorectomy With Breast Cancer Risk in Women With BRCA1 and BRCA2 Pathogenic Variants
Choi, Yun-Hee
Terry, Mary Beth
Daly, Mary B.
MacInnis, Robert J.
Hopper, John L.
Colonna, Sarah
Buys, Saundra S.
Andrulis, Irene L.
John, Esther M.
Kurian, Allison W.
Briollais, Laurent
JAMA ONCOLOGY, 2021, 7 (04) : 585 - 592
[28] Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed
Conduit, Ciara
Milne, Roger L.
Phillips, Kelly-Anne
JAMA ONCOLOGY, 2021, 7 (09) : 1401 - 1401
[29] Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants
Walker, Melissa
Jacobson, Michelle
Sobel, Mara
CANADIAN MEDICAL ASSOCIATION JOURNAL, 2019, 191 (32) : E886 - E893
[30] CLINICOPATHOLOGICAL CHARACTERISTICS AND BRCA1 /BRCA2 PATHOGENIC VARIANTS OF PATIENTS WITH BREAST CANCER
Eras, Nazan
Tuncel, Ferah
Altintas, Zuhal
Erden, Sema
POLISH JOURNAL OF PATHOLOGY, 2024, 75 (01) : 1 - 7

← 1 2 3 4 5 →