Mutational analysis of breast cancer: Guiding personalized treatments

Breast

Volumn 22, Issue S2, 2013, Pages

  Ellis, Matthew J ^a  

^a USA   (United States)

Author keywords

Breast cancer; Genomics; Somatic mutation; Therapeutic road map; Whole genome sequencing

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; PROTEIN MDM2; PROTEIN P53; TRANSCRIPTION FACTOR GATA 3;

AKT1 GENE; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER PROGNOSIS; COPY NUMBER VARIATION; GATA 3 GENE; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HER2 GENE; HUMAN; MAP3K1 GENE; MDM2 GENE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; PERSONALIZED MEDICINE; PIK3CA GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; TP53 GENE;

BREAST CANCER; GENOMICS; SOMATIC MUTATION; THERAPEUTIC ROAD MAP; WHOLE GENOME SEQUENCING;

ADULT; AGED; ANTINEOPLASTIC AGENTS, HORMONAL; BREAST NEOPLASMS; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENES, ERBB-2; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HUMANS; INDIVIDUALIZED MEDICINE; MASTECTOMY; MIDDLE AGED; PROGNOSIS; RISK ASSESSMENT; SEQUENCE ANALYSIS, DNA; SURVIVAL ANALYSIS; TREATMENT OUTCOME;

EID: 84884712563     PISSN: 09609776     EISSN: 15323080     Source Type: Journal    
DOI: 10.1016/j.breast.2013.07.003     Document Type: Article

References (26)

1. Shah S.P., Roth A., Goya R., Oloumi A., Ha G., Zhao Y., et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature 2012, 486:395-399.
2. Stephens P.J., Tarpey P.S., Davies H., Van Loo P., Greenman C., Wedge D.C., et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012, 486:400-404.
3. Banerji S., Cibulskis K., Rangel-Escareno C., Brown K.K., Carter S.L., Frederick A.M., et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature 2012, 486:405-409.
4. Ellis M.J., Ding L., Shen D., Luo J., Suman V.J., Wallis J.W., et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 2012, 486:353-360.
5. Curtis C., Shah S.P., Chin S.F., Turashvili G., Rueda O.M., Dunning M.J., et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 2012, 486:346-352.
6. Koboldt D.C., Fulton R.S., McLellan M.D., Schmidt H., Kalicki-Veizer J., McMichael J.F., et al. Comprehensive molecular portraits of human breast tumours. Nature 2012.
7. Walter M.J., Graubert T.A., Dipersio J.F., Mardis E.R., Wilson R.K., Ley T.J. Next-generation sequencing of cancer genomes: back to the future. Per Med 2009, 6:653.
8. Dunham I., Kundaje A., Aldred S.F., Collins P.J., Davis C.A., Doyle F., et al. An integrated encyclopedia of DNA elements in the human genome. Nature 2012, 489:57-74.
9. Samuels Y., Wang Z., Bardelli A., Silliman N., Ptak J., Szabo S., et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004, 304:554.
10. Sanchez C.G., Ma C.X., Crowder R.J., Guintoli T., Phommaly C., Gao F., et al. Preclinical modeling of combined phosphatidylinositol-3-kinase inhibition with endocrine therapy for estrogen receptor-positive breast cancer. Breast Cancer Res 2011, 13:R21.
11. Bose R., Kavuri S.M., Searleman A.C., Shen W., Shen D., Koboldt D.C., et al. Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer. Cancer Discov 2012.
12. Stephens P.J., Greenman C.D., Fu B., Yang F., Bignell G.R., Mudie L.J., et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011, 144:27-40.
13. Ding L., Ellis M.J., Li S., Larson D.E., Chen K., Wallis J.W., et al. Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature 2010, 464:999-1005.
14. Ellis M.J., Suman V.J., Hoog J., Lin L., Snider J., Prat A., et al. Randomized phase II neoadjuvant comparison between letrozole, anastrozole, and exemestane for postmenopausal women with estrogen receptor-rich stage 2 to 3 breast cancer: clinical and biomarker outcomes and predictive value of the baseline PAM50-based intrinsic subtype-ACOSOG Z1031. J Clin Oncol 2011, 29:2342-2349.
15. Ellis M.J., Perou C.M. The genomic landscape of breast cancer as a therapeutic roadmap. Cancer Discov 2013, 3:27-34.
16. Turner N., Pearson A., Sharpe R., Lambros M., Geyer F., Lopez-Garcia M.A., et al. FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer. Cancer Res 2010, 70:2085-2094.
17. Baselga J., Campone M., Piccart M., Burris H.A., Rugo H.S., Sahmoud T., et al. Everolimus in postmenopausal hormone-receptor-positive advanced breast cancer. N Engl J Med 2012, 366:520-529.
18. Comprehensive molecular portraits of human breast tumours. Nature 2012, 490:61-70.
19. Crowder R.J., Phommaly C., Tao Y., Hoog J., Luo J., Perou C.M., et al. PIK3CA and PIK3CB inhibition produce synthetic lethality when combined with estrogen deprivation in estrogen receptor-positive breast cancer. Cancer Res 2009, 69:3955-3962.
20. Carvalho S., Milanezi F., Costa J.L., Amendoeira I., Schmitt F. PIKing the right isoform: the emergent role of the p110beta subunit in breast cancer. Virchows Arch 2010, 456:235-243.
21. Ni J., Liu Q., Xie S., Carlson C., Von T., Vogel K., et al. Functional characterization of an isoform-selective inhibitor of PI3K-p110beta as a potential anticancer agent. Cancer Discov 2012, 2:425-433.
22. Jamieson S., Flanagan J.U., Kolekar S., Buchanan C., Kendall J.D., Lee W.J., et al. A drug targeting only p110alpha can block phosphoinositide 3-kinase signalling and tumour growth in certain cell types. Biochem J 2011, 438:53-62.
23. Miller T.W., Balko J.M., Fox E.M., Ghazoui Z., Dunbier A., Anderson H., et al. ERalpha-dependent E2F transcription can mediate resistance to estrogen deprivation in human breast cancer. Cancer Discov 2011, 1:338-351.
24. Roberts P.J., Bisi J.E., Strum J.C., Combest A.J., Darr D.B., Usary J.E., et al. Multiple roles of cyclin-dependent kinase 4/6 inhibitors in cancer therapy. J Natl Cancer Inst 2012, 104:476-487.
25. Zhuang C., Miao Z., Zhu L., Dong G., Guo Z., Wang S., et al. Discovery, synthesis, and biological evaluation of orally active pyrrolidone derivatives as novel inhibitors of p53-MDM2 protein-protein interaction. J Med Chem 2012, 55:9630-9642.
26. Ng S., Collisson E.A., Sokolov A., Goldstein T., Gonzalez-Perez A., Lopez-Bigas N., et al. PARADIGM-SHIFT predicts the function of mutations in multiple cancers using pathway impact analysis. Bioinformatics 2012, 28:i640-i646.