Homologous recombination deficiency in triple negative breast cancer

被引：61

作者：

Belli, Carmen ^{[1
]}

Duso, Bruno Achutti ^{[1
]}

Ferraro, Emanuela ^{[1
]}

Curigliano, Giuseppe ^{[1
,2
]}

机构：

[1] IRCCS, European Inst Oncol, Div Early Drug Dev Innovat Therapies, Via Ripamonti 435, I-20141 Milan, Italy

[2] Univ Milan, Dept Oncol & Hematooncol, Via Festa del Perdono 7, I-20122 Milan, Italy

来源：

BREAST | 2019年 / 45卷

关键词：

Homologous recombination deficiency; BRCA mutations; Triple negative breast cancer; Platinum agent; PARP inhibitors; STANDARD NEOADJUVANT CHEMOTHERAPY; PREDICTS RESPONSE; CTLA-4; BLOCKADE; PD-1; PHASE-II; INSTABILITY; REPAIR; CARBOPLATIN; BRCA1; MULTICENTER;

D O I：

10.1016/j.breast.2019.02.007

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Triple negative breast cancer (TNBC) represents a heterogeneous subtype of breast cancer characterized by an unfavorable prognosis due to its aggressive biology. The median overall survival (OS) for patients with metastatic TNBC is around 9-12 months with conventional cytotoxic agents. Considering this suboptimal outcome, which is induced despite of medical treatment, new therapeutic strategies would be urgently needed. The ultimate goal of precision medicine is to identify specific molecular alterations that permit considering effective targeted drug(s). Germline BRCA mutations occur in 10-20% of TNBC patients while somatic mutations occur in 3-5% of them. Alterations in the homologous recombination (HR) system are typical of BRCA mutant tumors, but can also be identified in tumors that do not carry this mutation, defining a subgroup of patients referred to as BRCAness. In this review, we focus on the role of homologous recombination deficiency (HRD) as both predictive and prognostic factor in different settings of TNBC patients treated with DNA damaging drugs and poly ADP ribose polymerase (PARP) inhibitors. (C) 2019 Elsevier Ltd. All rights reserved.

引用

页码：15 / 21

页数：7

共 52 条

[1] Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer [J].

Abkevich, V. ;

Timms, K. M. ;

Hennessy, B. T. ;

Potter, J. ;

Carey, M. S. ;

Meyer, L. A. ;

Smith-McCune, K. ;

Broaddus, R. ;

Lu, K. H. ;

Chen, J. ;

Tran, T. V. ;

Williams, D. ;

Iliev, D. ;

Jammulapati, S. ;

FitzGerald, L. M. ;

Krivak, T. ;

DeLoia, J. A. ;

Gutin, A. ;

Mills, G. B. ;

Lanchbury, J. S. .

BRITISH JOURNAL OF CANCER, 2012, 107 (10) :1776-1782

[2]

[Anonymous], J CLIN ONCOL S

[3] Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents [J].

Birkbak, Nicolai J. ;

Wang, Zhigang C. ;

Kim, Ji-Young ;

Eklund, Aron C. ;

Li, Qiyuan ;

Tian, Ruiyang ;

Bowman-Colin, Christian ;

Li, Yang ;

Greene-Colozzi, April ;

Iglehart, J. Dirk ;

Tung, Nadine ;

Ryan, Paula D. ;

Garber, Judy E. ;

Silver, Daniel P. ;

Szallasi, Zoltan ;

Richardson, Andrea L. .

CANCER DISCOVERY, 2012, 2 (04) :366-375

[4] Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden [J].

Chalmers, Zachary R. ;

Connelly, Caitlin F. ;

Fabrizio, David ;

Gay, Laurie ;

Ali, Siraj M. ;

Ennis, Riley ;

Schrock, Alexa ;

Campbell, Brittany ;

Shlien, Adam ;

Chmielecki, Juliann ;

Huang, Franklin ;

He, Yuting ;

Sun, James ;

Tabori, Uri ;

Kennedy, Mark ;

Lieber, Daniel S. ;

Roels, Steven ;

White, Jared ;

Otto, Geoffrey A. ;

Ross, Jeffrey S. ;

Garraway, Levi ;

Miller, Vincent A. ;

Stephens, Phillip J. ;

Frampton, Garrett M. .

GENOME MEDICINE, 2017, 9

[5] BRCA1 promoter methylation predicts adverse ovarian cancer prognosis [J].

Chiang, Jing Wang ;

Karlan, Beth Y. ;

Cass, Ilana ;

Baldwin, Rae Lynn .

GYNECOLOGIC ONCOLOGY, 2006, 101 (03) :403-410

[6] Homologous recombination deficiency (HRD) as a predictive biomarker of response to preoperative systemic therapy (PST) in TBCRC008 comprising a platinum in HER2-negative primary operable breast cancer [J].

Connolly, R. ;

Elkin, E. ;

Timms, K. ;

Goetz, M. ;

Boughey, J. ;

Zhang, Z. ;

Walsh, B. ;

Carpenter, J. ;

Storniolo, A. ;

Watkins, S. ;

Gabrielson, E. ;

Hartman, A-R ;

Stearns, V. .

CANCER RESEARCH, 2016, 76

[7] HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures [J].

Davies, Helen ;

Glodzik, Dominik ;

Morganella, Sandro ;

Yates, Lucy R. ;

Staaf, Johan ;

Zou, Xueqing ;

Ramakrishna, Manasa ;

Martin, Sancha ;

Boyault, Sandrine ;

Sieuwerts, Anieta M. ;

Simpson, Peter T. ;

King, Tari A. ;

Raine, Keiran ;

Eyfjord, Jorunn E. ;

Kong, Gu ;

Borg, Ake ;

Birney, Ewan ;

Stunnenberg, Hendrik G. ;

van de Vijver, Marc J. ;

Borresen-Dale, Anne-Lise ;

Martens, John W. M. ;

Span, Paul N. ;

Lakhani, Sunil R. ;

Vincent-Salomon, Anne ;

Sotiriou, Christos ;

Tutt, Andrew ;

Thompson, Alastair M. ;

Van Laere, Steven ;

Richardson, Andrea L. ;

Viari, Alain ;

Campbell, Peter J. ;

Stratton, Michael R. ;

Nik-Zainal, Serena .

NATURE MEDICINE, 2017, 23 (04) :517-+

[8] Molecular alterations in triple-negative breast cancer-the road to new treatment strategies [J].

Denkert, Carsten ;

Liedtke, Cornelia ;

Tutt, Andrew ;

von Minckwitz, Gunter .

LANCET, 2017, 389 (10087) :2430-2442

[9] Triple-negative breast cancer: Clinical features and patterns of recurrence [J].

Dent, Rebecca ;

Trudeau, Maureen ;

Pritchard, Kathleen I. ;

Hanna, Wedad M. ;

Kahn, Harriet K. ;

Sawka, Carol A. ;

Lickley, Lavina A. ;

Rawlinson, Ellen ;

Sun, Ping ;

Narod, Steven A. .

CLINICAL CANCER RESEARCH, 2007, 13 (15) :4429-4434

[10] Microsatellite Instability as a Biomarker for PD-1 Blockade [J].

Dudley, Jonathan C. ;

Lin, Ming-Tseh ;

Le, Dung T. ;

Eshleman, James R. .

CLINICAL CANCER RESEARCH, 2016, 22 (04) :813-820

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