Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis


Fabrice Andre and colleagues describe the mutations occurring in a large group of patients with metastatic breast cancer.


Vyšlo v časopise: Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis. PLoS Med 13(12): e32767. doi:10.1371/journal.pmed.1002201
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pmed.1002201

Souhrn

Fabrice Andre and colleagues describe the mutations occurring in a large group of patients with metastatic breast cancer.


Zdroje

1. Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature. 2012;486(7403):353–60. PubMed Central PMCID: PMCPMC3383766. doi: 10.1038/nature11143 22722193

2. The Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61–70. doi: 10.1038/nature11412 23000897

3. Alexandrov LB, Nik-Zainal S, Wedge DC, Campbell PJ, Stratton MR. Deciphering signatures of mutational processes operative in human cancer. Cell Rep. 2013;3(1):246–59. PubMed Central PMCID: PMCPMC3588146. doi: 10.1016/j.celrep.2012.12.008 23318258

4. Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endesfelder D, Gronroos E, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366(10):883–92. doi: 10.1056/NEJMoa1113205 22397650

5. Haffner MC, Mosbruger T, Esopi DM, Fedor H, Heaphy CM, Walker DA, et al. Tracking the clonal origin of lethal prostate cancer. J Clin Invest. 2013;123(11):4918–22. PubMed Central PMCID: PMC3809798. doi: 10.1172/JCI70354 24135135

6. Andre F, Bachelot T, Commo F, Campone M, Arnedos M, Dieras V, et al. Comparative genomic hybridisation array and DNA sequencing to direct treatment of metastatic breast cancer: a multicentre, prospective trial (SAFIR01/UNICANCER). Lancet Oncol. 2014;15(3):267–74. doi: 10.1016/S1470-2045(13)70611-9 24508104

7. Le Tourneau C, Delord JP, Gonçalves A, Gavoille C, Dubot C, Isambert N, et al. Molecularly targeted therapy based on tumour molecular profiling versus conventional therapy for advanced cancer (SHIVA): a multicentre, open-label, proof-of-concept, randomised, controlled phase 2 trial. Lancet Oncol. 2015;16(13):1324–34. doi: 10.1016/S1470-2045(15)00188-6 26342236

8. Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol. 2009;27(2):182–9. PubMed Central PMCID: PMCPMC2663421. doi: 10.1038/nbt.1523 19182786

9. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589–95. PubMed Central PMCID: PMC2828108. doi: 10.1093/bioinformatics/btp698 20080505

10. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303. PubMed Central PMCID: PMC2928508. doi: 10.1101/gr.107524.110 20644199

11. Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol. 2013;31(3):213–9. PubMed Central PMCID: PMC3833702. doi: 10.1038/nbt.2514 23396013

12. Narzisi G, O'Rawe JA, Iossifov I, Fang H, Lee YH, Wang Z, et al. Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nat Methods. 2014;11(10):1033–6. PubMed Central PMCID: PMCPMC4180789. doi: 10.1038/nmeth.3069 25128977

13. Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6(2):80–92. PubMed Central PMCID: PMC3679285. doi: 10.4161/fly.19695 22728672

14. Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43(Database issue):D805–11. doi: 10.1093/nar/gku1075 25355519

15. Favero F, Joshi T, Marquard AM, Birkbak NJ, Krzystanek M, Li Q, et al. Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data. Ann Oncol. 2015;26(1):64–70. PubMed Central PMCID: PMCPMC4269342. doi: 10.1093/annonc/mdu479 25319062

16. Carter SL, Cibulskis K, Helman E, McKenna A, Shen H, Zack T, et al. Absolute quantification of somatic DNA alterations in human cancer. Nat Biotechnol. 2012;30(5):413–21. PubMed Central PMCID: PMCPMC4383288. doi: 10.1038/nbt.2203 22544022

17. Lawrence MS, Stojanov P, Polak P, Kryukov GV, Cibulskis K, Sivachenko A, et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature. 2013;499(7457):214–8. PubMed Central PMCID: PMCPMC3919509. doi: 10.1038/nature12213 23770567

18. Dees ND, Zhang Q, Kandoth C, Wendl MC, Schierding W, Koboldt DC, et al. MuSiC: identifying mutational significance in cancer genomes. Genome Res. 2012;22(8):1589–98. PubMed Central PMCID: PMCPMC3409272. doi: 10.1101/gr.134635.111 22759861

19. Hua X, Xu H, Yang Y, Zhu J, Liu P, Lu Y. DrGaP: a powerful tool for identifying driver genes and pathways in cancer sequencing studies. Am J Hum Genet. 2013;93(3):439–51. PubMed Central PMCID: PMCPMC3769934. doi: 10.1016/j.ajhg.2013.07.003 23954162

20. Mermel CH, Schumacher SE, Hill B, Meyerson ML, Beroukhim R, Getz G. GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol. 2011;12(4):R41. PubMed Central PMCID: PMCPMC3218867. doi: 10.1186/gb-2011-12-4-r41 21527027

21. Rosenthal R, McGranahan N, Herrero J, Taylor BS, Swanton C. deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution. Genome Biol. 2016;17(1):31. PubMed Central PMCID: PMCPMC4762164.

22. Li S, Shen D, Shao J, Crowder R, Liu W, Prat A, et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts. Cell Rep. 2013;4(6):1116–30. PubMed Central PMCID: PMCPMC3881975. doi: 10.1016/j.celrep.2013.08.022 24055055

23. Toy W, Shen Y, Won H, Green B, Sakr RA, Will M, et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet. 2013;45(12):1439–45. PubMed Central PMCID: PMCPMC3903423. doi: 10.1038/ng.2822 24185512

24. Robinson DR, Wu YM, Vats P, Su F, Lonigro RJ, Cao X, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet. 2013;45(12):1446–51. PubMed Central PMCID: PMCPMC4009946. doi: 10.1038/ng.2823 24185510

25. Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415–21. Epub 2013/08/16. PubMed Central PMCID: PMCPmc3776390. doi: 10.1038/nature12477 23945592

26. McGranahan N, Favero F, de Bruin EC, Birkbak NJ, Szallasi Z, Swanton C. Clonal status of actionable driver events and the timing of mutational processes in cancer evolution. Sci Transl Med. 2015;7(283):283ra54. PubMed Central PMCID: PMCPMC4636056. doi: 10.1126/scitranslmed.aaa1408 25877892

27. Orsetti B, Selves J, Bascoul-Mollevi C, Lasorsa L, Gordien K, Bibeau F, et al. Impact of chromosomal instability on colorectal cancer progression and outcome. BMC Cancer. 2014;14:121. PubMed Central PMCID: PMCPMC4233623. doi: 10.1186/1471-2407-14-121 24559140

28. Jeselsohn R, Buchwalter G, De Angelis C, Brown M, Schiff R. ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer. Nat Rev Clin Oncol. 2015;12(10):573–83. doi: 10.1038/nrclinonc.2015.117 26122181

29. Turner NC, Huang Bartlett C, Cristofanilli M. Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer. N Engl J Med. 2015;373(17):1672–3.

30. Cybulski C, Kluzniak W, Huzarski T, Wokolorczyk D, Kashyap A, Jakubowska A, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015;16(6):638–44. doi: 10.1016/S1470-2045(15)70142-7 25959805

31. Baselga J, Campone M, Piccart M, Burris HA, Rugo HS, Sahmoud T, et al. Everolimus in postmenopausal hormone-receptor-positive advanced breast cancer. N Engl J Med. 2012;366(6):520–9. doi: 10.1056/NEJMoa1109653 22149876

32. Hortobagyi GN, Stemmer SM, Burris HA, Yap YS, Sonke GS, Paluch-Shimon S, et al. Ribociclib as First-Line Therapy for HR-Positive, Advanced Breast Cancer. N Engl J Med. 2016;375(18):1738–48. doi: 10.1056/NEJMoa1609709 27717303

33. Lobbezoo DJ, van Kampen RJ, Voogd AC, Dercksen MW, van den Berkmortel F, Smilde TJ, et al. In real life, one-quarter of patients with hormone receptor-positive metastatic breast cancer receive chemotherapy as initial palliative therapy: a study of the Southeast Netherlands Breast Cancer Consortium. Ann Oncol. 2016;27(2):256–62. doi: 10.1093/annonc/mdv544 26578730

Štítky
Interné lekárstvo

Článok vyšiel v časopise

PLOS Medicine


2016 Číslo 12
Najčítanejšie tento týždeň
Najčítanejšie v tomto čísle
Kurzy

Zvýšte si kvalifikáciu online z pohodlia domova

Eozinofilní granulomatóza s polyangiitidou
nový kurz
Autori: doc. MUDr. Martina Doubková, Ph.D.

Všetky kurzy
Prihlásenie
Zabudnuté heslo

Zadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.

Prihlásenie

Nemáte účet?  Registrujte sa