. 2009 Sep;13(10).
doi: 10.1111/j.1582-4934.2009.00906.x.

Genetic characterization of breast cancer and implications for clinical management

Felipe C Geyer 1 Maria A Lopez-Garcia  Maryou B Lambros  Jorge S Reis-Filho  
  • PMID: 19754664
  •     172 References
  •     7 citations


Breast cancer is a genetic disease caused by the accumulation of mutations in neoplastic cells. In the last few years, high-throughput microarray-based molecular analysis has provided increasingly more coherent information about the genetic aberrations in breast cancer. New biomarkers and molecular techniques are slowly becoming part of the diagnostic and prognostic armamentarium available for pathologists and oncologists to tailor the therapy for breast cancer patients. In this review, we will focus on the contribution of breast cancer somatic genetics to our understanding of breast cancer biology and its impact on breast cancer patient management.

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The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.
Sunil R Lakhani, Marc J Van De Vijver, +4 authors, Douglas F Easton.
J Clin Oncol, 2002 May 01; 20(9). PMID: 11981002
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BRCA1, a potential predictive biomarker in the treatment of breast cancer.
Colin R James, Jennifer E Quinn, +2 authors, D Paul Harkin.
Oncologist, 2007 Feb 14; 12(2). PMID: 17296808
Somatic loss of BRCA1 and p53 in mice induces mammary tumors with features of human BRCA1-mutated basal-like breast cancer.
Xiaoling Liu, Henne Holstege, +9 authors, Jos Jonkers.
Proc Natl Acad Sci U S A, 2007 Jul 13; 104(29). PMID: 17626182    Free PMC article.
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Bringing DNA repair in tumors into focus.
Christopher J Lord, Alan Ashworth.
Clin Cancer Res, 2009 May 19; 15(10). PMID: 19447863
Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2.
D J Slamon, B Leyland-Jones, +9 authors, L Norton.
N Engl J Med, 2001 Mar 15; 344(11). PMID: 11248153
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Gene-expression signatures in breast cancer.
Christos Sotiriou, Lajos Pusztai.
N Engl J Med, 2009 Feb 21; 360(8). PMID: 19228622
Highly Cited. Review.
A robust classifier of high predictive value to identify good prognosis patients in ER-negative breast cancer.
Andrew E Teschendorff, Carlos Caldas.
Breast Cancer Res, 2008 Aug 30; 10(4). PMID: 18755024    Free PMC article.
DNA copy number alterations and expression of relevant genes in triple-negative breast cancer.
Wonshik Han, Eun-Mi Jung, +10 authors, Dong-Young Noh.
Genes Chromosomes Cancer, 2008 Mar 05; 47(6). PMID: 18314908
Introducing molecular subtyping of breast cancer into the clinic?
Therese Sørlie.
J Clin Oncol, 2009 Feb 11; 27(8). PMID: 19204193
Multiple interacting oncogenes on the 8p11-p12 amplicon in human breast cancer.
Zeng Quan Yang, Katie L Streicher, +2 authors, Stephen P Ethier.
Cancer Res, 2006 Dec 21; 66(24). PMID: 17178857
An integrative genomic and transcriptomic analysis reveals molecular pathways and networks regulated by copy number aberrations in basal-like, HER2 and luminal cancers.
Rachael Natrajan, Britta Weigelt, +10 authors, Jorge S Reis-Filho.
Breast Cancer Res Treat, 2009 Aug 19; 121(3). PMID: 19688261
Augmented cancer resistance and DNA damage response phenotypes in PPM1D null mice.
Bonnie Nannenga, Xiongbin Lu, +5 authors, Lawrence A Donehower.
Mol Carcinog, 2006 May 03; 45(8). PMID: 16652371
Topoisomerase II alpha and responsiveness of breast cancer to adjuvant chemotherapy.
F P O'Malley, S Chia, +5 authors, K I Pritchard.
J Natl Cancer Inst, 2009 Apr 30; 101(9). PMID: 19401546    Free PMC article.
Dual roles for the phosphatase PPM1D in regulating progesterone receptor function.
David A Proia, Bonnie W Nannenga, Lawrence A Donehower, Nancy L Weigel.
J Biol Chem, 2005 Dec 15; 281(11). PMID: 16352595
Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.
Alison M Hosey, Julia J Gorski, +15 authors, D Paul Harkin.
J Natl Cancer Inst, 2007 Nov 15; 99(22). PMID: 18000219    Free PMC article.
A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer.
Xiao-Jun Ma, Ranelle Salunga, +8 authors, Dennis Sgroi.
Clin Cancer Res, 2008 May 03; 14(9). PMID: 18451222
Targeted therapy for cancer using PARP inhibitors.
Christopher J Lord, Alan Ashworth.
Curr Opin Pharmacol, 2008 Jul 23; 8(4). PMID: 18644251
Highly Cited. Review.
Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis.
Christos Sotiriou, Pratyaksha Wirapati, +17 authors, Mauro Delorenzi.
J Natl Cancer Inst, 2006 Feb 16; 98(4). PMID: 16478745
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Molecular classification of breast cancer: implications for selection of adjuvant chemotherapy.
Fabrice Andre, Lajos Pusztai.
Nat Clin Pract Oncol, 2006 Nov 03; 3(11). PMID: 17080180
Topoisomerase II{alpha} amplification does not predict benefit from dose-intense cyclophosphamide, doxorubicin, and fluorouracil therapy in HER2-amplified early breast cancer: results of CALGB 8541/150013.
Lyndsay N Harris, Gloria Broadwater, +11 authors, Lynn Dressler.
J Clin Oncol, 2009 May 28; 27(21). PMID: 19470942    Free PMC article.
A gene-expression signature as a predictor of survival in breast cancer.
Marc J van de Vijver, Yudong D He, +18 authors, René Bernards.
N Engl J Med, 2002 Dec 20; 347(25). PMID: 12490681
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Topoisomerase II alpha amplification may predict benefit from adjuvant anthracyclines in HER2 positive early breast cancer.
Edurne Arriola, Socorro Maria Rodriguez-Pinilla, +6 authors, Jorge S Reis-Filho.
Breast Cancer Res Treat, 2007 Jan 30; 106(2). PMID: 17260090
Infiltrating lobular carcinoma of the breast: tumor characteristics and clinical outcome.
Grazia Arpino, Valerie J Bardou, Gary M Clark, Richard M Elledge.
Breast Cancer Res, 2004 Apr 16; 6(3). PMID: 15084238    Free PMC article.
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High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors.
Elodie Manié, Anne Vincent-Salomon, +13 authors, Marc-Henri Stern.
Cancer Res, 2009 Jan 17; 69(2). PMID: 19147582
Somatic inactivation of E-cadherin and p53 in mice leads to metastatic lobular mammary carcinoma through induction of anoikis resistance and angiogenesis.
Patrick W B Derksen, Xiaoling Liu, +11 authors, Jos Jonkers.
Cancer Cell, 2006 Nov 14; 10(5). PMID: 17097565
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Predicting prognosis using molecular profiling in estrogen receptor-positive breast cancer treated with tamoxifen.
Sherene Loi, Benjamin Haibe-Kains, +16 authors, Christos Sotiriou.
BMC Genomics, 2008 May 24; 9. PMID: 18498629    Free PMC article.
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High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.
Suet F Chin, Andrew E Teschendorff, +13 authors, Carlos Caldas.
Genome Biol, 2007 Oct 11; 8(10). PMID: 17925008    Free PMC article.
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gammaH2AX expression in tumors exposed to cisplatin and fractionated irradiation.
C Adriana Bañuelos, Judit P Banáth, +2 authors, Peggy L Olive.
Clin Cancer Res, 2009 Apr 30; 15(10). PMID: 19401347
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy.
Hannah Farmer, Nuala McCabe, +11 authors, Alan Ashworth.
Nature, 2005 Apr 15; 434(7035). PMID: 15829967
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BRCA1 dysfunction in sporadic basal-like breast cancer.
N C Turner, J S Reis-Filho, +8 authors, A N Tutt.
Oncogene, 2006 Oct 04; 26(14). PMID: 17016441
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Lapatinib plus capecitabine for HER2-positive advanced breast cancer.
Charles E Geyer, John Forster, +15 authors, David Cameron.
N Engl J Med, 2006 Dec 29; 355(26). PMID: 17192538
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Mixed micropapillary-ductal carcinomas of the breast: a genomic and immunohistochemical analysis of morphologically distinct components.
Caterina Marchiò, Marjan Iravani, +13 authors, Jorge S Reis-Filho.
J Pathol, 2009 May 30; 218(3). PMID: 19479727
Breast cancer molecular subtypes respond differently to preoperative chemotherapy.
Roman Rouzier, Charles M Perou, +13 authors, Lajos Pusztai.
Clin Cancer Res, 2005 Aug 24; 11(16). PMID: 16115903
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Biological processes associated with breast cancer clinical outcome depend on the molecular subtypes.
Christine Desmedt, Benjamin Haibe-Kains, +6 authors, Christos Sotiriou.
Clin Cancer Res, 2008 Aug 14; 14(16). PMID: 18698033
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Nestin is expressed in basal-like and triple negative breast cancers.
S Parry, K Savage, C Marchiò, J S Reis-Filho.
J Clin Pathol, 2008 Jul 22; 61(9). PMID: 18641405
Predictors of resistance to preoperative trastuzumab and vinorelbine for HER2-positive early breast cancer.
Lyndsay N Harris, Fanglei You, +12 authors, Eric P Winer.
Clin Cancer Res, 2007 Feb 24; 13(4). PMID: 17317830
Genetic reclassification of histologic grade delineates new clinical subtypes of breast cancer.
Anna V Ivshina, Joshy George, +12 authors, Lance D Miller.
Cancer Res, 2006 Nov 03; 66(21). PMID: 17079448
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Characterization of topoisomerase II alpha gene amplification and deletion in breast cancer.
T A Järvinen, M Tanner, +2 authors, J Isola.
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Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication.
M B K Lambros, D S P Tan, +7 authors, J S Reis-Filho.
J Clin Pathol, 2009 Jun 30; 62(7). PMID: 19561229
Technology Insight: tuning into the genetic orchestra using microarrays--limitations of DNA microarrays in clinical practice.
Ambreen Abdullah-Sayani, Jolien M Bueno-de-Mesquita, Marc J van de Vijver.
Nat Clin Pract Oncol, 2006 Sep 07; 3(9). PMID: 16955089
Specific morphological features predictive for the basal phenotype in grade 3 invasive ductal carcinoma of breast.
L G Fulford, D F Easton, +4 authors, A Hanby.
Histopathology, 2006 Jul 18; 49(1). PMID: 16842243
Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications.
T Sørlie, C M Perou, +14 authors, A L Børresen-Dale.
Proc Natl Acad Sci U S A, 2001 Sep 13; 98(19). PMID: 11553815    Free PMC article.
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Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast.
S Droufakou, V Deshmane, +3 authors, I R Hart.
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A comparative study of survival models for breast cancer prognostication based on microarray data: does a single gene beat them all?
B Haibe-Kains, C Desmedt, C Sotiriou, G Bontempi.
Bioinformatics, 2008 Jul 19; 24(19). PMID: 18635567    Free PMC article.
HER2 and responsiveness of breast cancer to adjuvant chemotherapy.
Kathleen I Pritchard, Lois E Shepherd, +5 authors, National Cancer Institute of Canada Clinical Trials Group.
N Engl J Med, 2006 May 19; 354(20). PMID: 16707747
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Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype.
Maggie C U Cheang, David Voduc, +5 authors, Torsten O Nielsen.
Clin Cancer Res, 2008 Mar 05; 14(5). PMID: 18316557
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Caveolin 1 is overexpressed and amplified in a subset of basal-like and metaplastic breast carcinomas: a morphologic, ultrastructural, immunohistochemical, and in situ hybridization analysis.
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Clin Cancer Res, 2007 Jan 04; 13(1). PMID: 17200343
How basal are triple-negative breast cancers?
François Bertucci, Pascal Finetti, +4 authors, Daniel Birnbaum.
Int J Cancer, 2008 Apr 10; 123(1). PMID: 18398844
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Adjuvant docetaxel or vinorelbine with or without trastuzumab for breast cancer.
Heikki Joensuu, Pirkko-Liisa Kellokumpu-Lehtinen, +22 authors, FinHer Study Investigators.
N Engl J Med, 2006 Feb 24; 354(8). PMID: 16495393
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The genomic profile of HER2-amplified breast cancers: the influence of ER status.
C Marchiò, R Natrajan, +13 authors, J S Reis-Filho.
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Expression analysis of candidate breast tumour suppressor genes on chromosome 16q.
Tom van Wezel, Marcel Lombaerts, +5 authors, Anne-Marie Cleton-Jansen.
Breast Cancer Res, 2005 Nov 11; 7(6). PMID: 16280054    Free PMC article.
Microarray-based gene expression profiling as a clinical tool for breast cancer management: are we there yet?
Felipe Correa Geyer, Jorge Sergio Reis-Filho.
Int J Surg Pathol, 2008 Dec 24; 17(4). PMID: 19103611
Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study.
Lisa A Carey, Charles M Perou, +14 authors, Robert C Millikan.
JAMA, 2006 Jun 08; 295(21). PMID: 16757721
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Distribution and significance of caveolin 2 expression in normal breast and invasive breast cancer: an immunofluorescence and immunohistochemical analysis.
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PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints.
Xiongbin Lu, Bonnie Nannenga, Lawrence A Donehower.
Genes Dev, 2005 May 05; 19(10). PMID: 15870257    Free PMC article.
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The molecular genetics of breast cancer: the contribution of comparative genomic hybridization.
Jorge S Reis-Filho, Peter T Simpson, Theodora Gale, Sunil R Lakhani.
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Next-generation sequencing.
Jorge S Reis-Filho.
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Transcriptomic landscape of breast cancers through mRNA sequencing.
Jeyanthy Eswaran, Dinesh Cyanam, +7 authors, Rakesh Kumar.
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Involving disparate populations in clinical trials and biobanking protocols: experiences from the community network program centers.
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Breast cancer classification and prognostication through diverse systems along with recent emerging findings in this respect; the dawn of new perspectives in the clinical applications.
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The Predictive Value of PITX2 DNA Methylation for High-Risk Breast Cancer Therapy: Current Guidelines, Medical Needs, and Challenges.
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The Complex Interaction between the Tumor Micro-Environment and Immune Checkpoints in Breast Cancer.
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