Zhe-Bin Liu1,2,3, Nader E Ezzedine4, Agda K Eterovic4, Joe E Ensor5, Helen J Huang6, Joan Albanell7,8,9, Dong S Choi2,5, Ana Lluch7,8,10, Yi Liu2,5, Federico Rojo7,8,11, Helen Wong2,5, Eduardo Martínez-Dueñas7,12, Ángel Guerrero-Zotano7,13, Zhi-Min Shao1,3, Jorge G Darcourt5, Gordon B Mills4, Bhuvanesh Dave2,5, Jenny C Chang14,15. 1. Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai, 20032, China. 2. Houston Methodist Research Institute, Houston, TX, 77030, USA. 3. Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China. 4. Department of Systems Biology and Institute of Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA. 5. Houston Methodist Cancer Center, 6445 Main St P21-34, Houston, TX, 77030, USA. 6. Division of Cancer Medicine, Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA. 7. GEICAM (Spanish Breast Cancer Group), San Sebastián de los Reyes, 28703, Madrid, Spain. 8. Centro de Investigación Biomédica en Red de Oncología, CIBERONC-ISCIII, 28029, Madrid, Spain. 9. Hospital del Mar, 08003, Barcelona, Spain. 10. Hospital Clínico Universitario de Valencia, 46010, Valencia, Spain. 11. Fundación Jiménez Díaz, 28040, Madrid, Spain. 12. Hospital Provincial de Castellón, 12002, Castellón, Spain. 13. Instituto Valenciano de Oncología, 46009, Valencia, Spain. 14. Houston Methodist Research Institute, Houston, TX, 77030, USA. jcchang@houstonmethodist.org. 15. Houston Methodist Cancer Center, 6445 Main St P21-34, Houston, TX, 77030, USA. jcchang@houstonmethodist.org.
Abstract
PURPOSE: Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications. METHODS: We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer. RESULTS: Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy. CONCLUSION: BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.
PURPOSE: Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications. METHODS: We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer. RESULTS: Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy. CONCLUSION: BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.
Entities:
Keywords:
Breast carcinoma; Droplet digital polymerase chain reaction; Metastasis; Mutation; Stem cell
Authors: Isaac Garcia-Murillas; Gaia Schiavon; Britta Weigelt; Charlotte Ng; Sarah Hrebien; Rosalind J Cutts; Maggie Cheang; Peter Osin; Ashutosh Nerurkar; Iwanka Kozarewa; Javier Armisen Garrido; Mitch Dowsett; Jorge S Reis-Filho; Ian E Smith; Nicholas C Turner Journal: Sci Transl Med Date: 2015-08-26 Impact factor: 17.956
Authors: Lisa M McShane; Douglas G Altman; Willi Sauerbrei; Sheila E Taube; Massimo Gion; Gary M Clark Journal: Breast Cancer Res Treat Date: 2006-08-24 Impact factor: 4.872
Authors: Frank Diehl; Meng Li; Devin Dressman; Yiping He; Dong Shen; Steve Szabo; Luis A Diaz; Steven N Goodman; Kerstin A David; Hartmut Juhl; Kenneth W Kinzler; Bert Vogelstein Journal: Proc Natl Acad Sci U S A Date: 2005-10-28 Impact factor: 11.205
Authors: Chad J Creighton; Xiaoxian Li; Melissa Landis; J Michael Dixon; Veronique M Neumeister; Ashley Sjolund; David L Rimm; Helen Wong; Angel Rodriguez; Jason I Herschkowitz; Cheng Fan; Xiaomei Zhang; Xiaping He; Anne Pavlick; M Carolina Gutierrez; Lorna Renshaw; Alexey A Larionov; Dana Faratian; Susan G Hilsenbeck; Charles M Perou; Michael T Lewis; Jeffrey M Rosen; Jenny C Chang Journal: Proc Natl Acad Sci U S A Date: 2009-08-03 Impact factor: 11.205
Authors: Bhuvanesh Dave; Sergio Granados-Principal; Rui Zhu; Stephen Benz; Shahrooz Rabizadeh; Patrick Soon-Shiong; Ke-Da Yu; Zhimin Shao; Xiaoxian Li; Michael Gilcrease; Zhao Lai; Yidong Chen; Tim H-M Huang; Haifa Shen; Xuewu Liu; Mauro Ferrari; Ming Zhan; Stephen T C Wong; Muthiah Kumaraswami; Vivek Mittal; Xi Chen; Steven S Gross; Jenny C Chang Journal: Proc Natl Acad Sci U S A Date: 2014-05-29 Impact factor: 11.205
Authors: Marco Gerlinger; Andrew J Rowan; Stuart Horswell; James Larkin; David Endesfelder; Eva Gronroos; Pierre Martinez; Nicholas Matthews; Aengus Stewart; Charles Swanton; M Math; Patrick Tarpey; Ignacio Varela; Benjamin Phillimore; Sharmin Begum; Neil Q McDonald; Adam Butler; David Jones; Keiran Raine; Calli Latimer; Claudio R Santos; Mahrokh Nohadani; Aron C Eklund; Bradley Spencer-Dene; Graham Clark; Lisa Pickering; Gordon Stamp; Martin Gore; Zoltan Szallasi; Julian Downward; P Andrew Futreal Journal: N Engl J Med Date: 2012-03-08 Impact factor: 91.245
Authors: Bhuvanesh Dave; Daniel D Gonzalez; Zhi-Bin Liu; Xiaoxian Li; Helen Wong; Sergio Granados; Nadeer E Ezzedine; Douglas H Sieglaff; Joe E Ensor; Kathy D Miller; Milan Radovich; Agda KarinaEtrovic; Steven S Gross; Olivier Elemento; Gordon B Mills; Michael Z Gilcrease; Jenny C Chang Journal: J Natl Cancer Inst Date: 2016-12-31 Impact factor: 13.506
Authors: Gihan S Gunaratne; Eugen Brailoiu; Shijun He; Ellen M Unterwald; Sandip Patel; James T Slama; Timothy F Walseth; Jonathan S Marchant Journal: Sci Signal Date: 2021-03-23 Impact factor: 8.192
Authors: Jonathan S Marchant; Gihan S Gunaratne; Xinjiang Cai; James T Slama; Sandip Patel Journal: Trends Biochem Sci Date: 2021-11-20 Impact factor: 13.807