Chromosome 1q21.3 amplification is a trackable biomarker and actionable target for breast cancer recurrence

Nature Medicine

Volumn 23, Issue 11, 2017, Pages 1319-1330

  Goh, Jian Yuan ^a   Feng, Min ^a   Wang, Wenyu ^a   Oguz, Gokce ^a,b   Yatim, Siti Maryam J M ^a   Lee, Puay Leng ^a   Bao, Yi ^a   Lim, Tse Hui ^c   Wang, Panpan ^d   Tam, Wai Leong ^a   Kodahl, Annette R ^f   Lyng, Maria B ^g   Sarma, Suman ^a   Lin, Selena Y ^h   Lezhava, Alexander ^a   Yap, Yoon Sim ⁱ   Lim, Alvin S T ^c   Hoon, Dave S B ^h   Ditzel, Henrik J ^f,g   Lee, Soo Chin ^e,j   Tan, Ern Yu ^k,l   Yu, Qiang ^a,b,d,m   more..

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c SINGAPORE GENERAL HOSPITAL   (Singapore)

^d JINAN UNIVERSITY   (China)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^f ODENSE UNIVERSITY HOSPITAL   (Denmark)

^g UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^h JOHN WAYNE CANCER INSTITUTE   (United States)

ⁱ DIVISION OF MEDICAL ONCOLOGY   (Singapore)

^j NATIONAL UNIVERSITY HEALTH SYSTEM   (Singapore)

^k TAN TOCK SENG HOSPITAL   (Singapore)

^l INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^m DUKE NUS MEDICAL SCHOOL   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CALCIUM BINDING PROTEIN; CALGRANULIN A; CALGRANULIN B; CARBOPLATIN; CELL FREE DNA; DNA; GEMCITABINE; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 1; PACLITAXEL; PACRITINIB; PSORIASIN; S100 CALCIUM BINDING PROTEIN A; UNCLASSIFIED DRUG; 11-(2-PYRROLIDIN-1-YLETHOXY)-14,19-DIOXA-5,7,26-TRIAZATETRACYCLO(19.3.1.1(2,6).1(8,12))HEPTACOSA-1(25),2(26),3,5,8,10,12(27),16,21,23-DECAENE; ANTINEOPLASTIC AGENT; BRIDGED COMPOUND; CELL FREE NUCLEIC ACID; PYRIMIDINE DERIVATIVE; TUMOR MARKER;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; BREAST CANCER; BREAST CANCER CELL LINE; CANCER CHEMOTHERAPY; CANCER CLASSIFICATION; CANCER PATIENT; CANCER RECURRENCE; CANCER STEM CELL; CHROMOSOME 1Q; CHROMOSOME 1Q21.3; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DRUG EFFICACY; FEEDBACK SYSTEM; FEMALE; GENE AMPLIFICATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; METASTATIC BREAST CANCER; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIMARY TUMOR; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; TRIPLE NEGATIVE BREAST CANCER; TUMOR GROWTH; TUMOR RESISTANCE; TUMOR VOLUME; TUMOR XENOGRAFT; ANIMAL; BREAST TUMOR; CHROMOSOME 1; DISEASE EXACERBATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; METABOLISM; PATHOLOGY; POLYMERASE CHAIN REACTION; TREATMENT OUTCOME; TUMOR RECURRENCE; XENOGRAFT;

ANIMALS; ANTINEOPLASTIC AGENTS; BIOMARKERS, TUMOR; BREAST NEOPLASMS; BRIDGED-RING COMPOUNDS; CELL-FREE NUCLEIC ACIDS; CHROMOSOMES, HUMAN, PAIR 1; DISEASE PROGRESSION; FEMALE; HETEROGRAFTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; NEOPLASM RECURRENCE, LOCAL; POLYMERASE CHAIN REACTION; PYRIMIDINES; TREATMENT OUTCOME;

EID: 85033241109     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.4405     Document Type: Article

References (47)

1. Al-Hajj, M., Wicha, M. S., Benito-Hernandez, A., Morrison, S. J. & Clarke, M. F. Prospective identification of tumorigenic breast cancer cells. Proc. Natl. Acad. Sci. USA 100, 3983-3988 (2003).
2. Nguyen, L. V., Vanner, R., Dirks, P. & Eaves, C. J. Cancer stem cells: an evolving concept. Nat. Rev. Cancer 12, 133-143 (2012).
3. Mitra, A., Mishra, L. & Li, S. EMT, CTCs and CSCs in tumor relapse and drugresistance. Oncotarget 6, 10697-10711 (2015).
4. Ginestier, C. et al. ALDH1 is a marker of normal and malignant human mammary stem cells and a predictor of poor clinical outcome. Cell Stem Cell 1, 555-567 (2007).
5. Marcato, P. et al. Aldehyde dehydrogenase 1A3 influences breast cancer progression via differential retinoic acid signaling. Mol. Oncol. 9, 17-31 (2015).
6. Marcato, P. et al. Aldehyde dehydrogenase activity of breast cancer stem cells is primarily due to isoform ALDH1A3 and its expression is predictive of metastasis. Stem Cells 29, 32-45 (2011).
7. Cerami, E. et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2, 401-404 (2012).
8. Ciriello, G. et al. Comprehensive molecular portraits of invasive lobular breast cancer. Cell 163, 506-519 (2015).
9. Gao, J. et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci. Signal. 6, pl1 (2013).
10. Gyo? rffy, B., Surowiak, P., Budczies, J. & Lanczky, A. Online survival analysis software to assess the prognostic value of biomarkers using transcriptomic data in non-smallcell lung cancer. PLoS One 8, e82241 (2013).
11. Pereira, B. et al. The somatic mutation profiles of 2, 433 breast cancers refines their genomic and transcriptomic landscapes. Nat. Commun. 7, 11479 (2016).
12. Curtis, C. et al. The genomic and transcriptomic architecture of 2, 000 breast tumours reveals novel subgroups. Nature. 486, 346-352 (2012).
13. Carreira, S. et al. Tumor clone dynamics in lethal prostate cancer. Sci. Transl. Med. 6, 254ra125 (2014).
14. Gevensleben, H. et al. Noninvasive detection of HER2 amplification with plasma DNA digital PCR. Clin. Cancer Res. 19, 3276-3284 (2013).
15. Miotke, L., Lau, B. T., Rumma, R. T. & Ji, H. P. High sensitivity detection and quantitation of DNA copy number and single nucleotide variants with single color droplet digital PCR. Anal. Chem. 86, 2618-2624 (2014).
16. Pearson, A. et al. High-level clonal FGFR amplification and response to FGFR inhibition in a translational clinical trial. Cancer Discov. 6, 838-851 (2016).
17. Romanel, A. et al. Plasma AR and abiraterone-resistant prostate cancer. Sci. Transl. Med. 7, 312re10 (2015).
18. Shoda, K. et al. Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer. Gastric Cancer 20, 126-135 (2016).
19. Alix-Panabieres, C. & Pantel, K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy. Cancer Discov. 6, 479-491 (2016).
20. Chan, D. et al. Phase II study of gemcitabine and carboplatin in metastatic breast cancers with prior exposure to anthracyclines and taxanes. Invest. New Drugs 28, 859-865 (2010).
21. Wang, X. et al. S100A14, a mediator of epithelial-mesenchymal transition, regulates proliferation, migration and invasion of human cervical cancer cells. Am. J. Cancer Res. 5, 1484-1495 (2015).
22. Tanaka, M. et al. Co-expression of S100A14 and S100A16 correlates with a poor prognosis in human breast cancer and promotes cancer cell invasion. BMC Cancer 15, 53 (2015).
23. Bresnick, A. R., Weber, D. J. & Zimmer, D. B. S100 proteins in cancer. Nat. Rev. Cancer 15, 96-109 (2015).
24. Zhang, Q. et al. Downregulation of 425G>A variant of calcium-binding protein S100A14 associated with poor differentiation and prognosis in gastric cancer. J. Cancer Res. Clin. Oncol. 141, 691-703 (2015).
25. Cho, H. et al. The role of S100A14 in epithelial ovarian tumors. Oncotarget 5, 3482-3496 (2014).
26. Wee, Z. N. et al. IRAK1 is a therapeutic target that drives breast cancer metastasis and resistance to paclitaxel. Nat. Commun. 6, 8746 (2015).
27. Beauverd, Y., McLornan, D. P. & Harrison, C. N. Pacritinib: a new agent for the management of myelofibrosis?. Expert Opin. Pharmacother. 16, 2381-2390 (2015).
28. Singer, J. W. et al. Comprehensive kinase profile of pacritinib, a nonmyelosuppressive Janus kinase 2 inhibitor. J. Exp. Pharmacol. 16, 11-19 (2016).
29. Verstovsek, S. et al. Phase 1/2 study of pacritinib, a next generation JAK2/FLT3 inhibitor, in myelofibrosis or other myeloid malignancies. Hematol. Oncol. 9, 137 (2016).
30. Crowley, E., Di Nicolantonio, F., Loupakis, F. & Bardelli, A. Liquid biopsy: monitoring cancer-genetics in the blood. Nat. Rev. Clin. Oncol. 10, 472-484 (2013).
31. Siravegna, G. & Bardelli, A. Genotyping cell-free tumor DNA in the blood to detect residual disease and drug resistance. Genome Biol. 15, 449 (2014).
32. Dawson, S. J. et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N. Engl. J. Med. 368, 1199-1209 (2013).
33. Thress, K. S. et al. Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M. Nat. Med. 21, 560-562 (2015).
34. Siravegna, G. et al. Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients. Nat. Med. 21, 795-801 (2015).
35. Garcia-Murillas, I. et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci. Transl. Med. 7, 302ra133 (2015).
36. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 490, 61-70 (2012).
37. Marusyk, A., Almendro, V. & Polyak, K. Intra-tumour heterogeneity: a looking glass for cancer? Nat. Rev. Cancer 12, 323-334 (2012).
38. Yates, L. R. et al. Subclonal diversification of primary breast cancer revealed by multiregion sequencing. Nat. Med. 21, 751-759 (2015).
39. Forshew, T. et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci. Transl. Med. 4, 136ra68 (2012).
40. Murtaza, M. et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497, 108-112 (2013).
41. Beaver, J. A. et al. Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin. Cancer Res. 20, 2643-2650 (2014).
42. Duffy, M. J., Shering, S., Sherry, F., McDermott, E. & O'Higgins, N. CA 15-3: a prognostic marker in breast cancer. Int. J. Biol. Markers 15, 330-333 (2000).
43. Harris, L. et al. American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. J. Clin. Oncol. 25, 5287-5312 (2007).
44. Sturgeon, C. Practice guidelines for tumor marker use in the clinic. Clin. Chem. 48, 1151-1159 (2002).
45. Mermel, C. H. et al. GISTIC2. 0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol. 12, R41 (2011).
46. Ono, S. et al. A direct plasma assay of circulating microRNA-210 of hypoxia can identify early systemic metastasis recurrence in melanoma patients. Oncotarget 6, 7053-7064 (2015).
47. McShane, L. M. et al. Reporting recommendations for tumor marker prognostic studies (REMARK). J. Natl. Cancer Inst. 97, 1180-1184 (2005).