Foundation Medicine Publications
At Foundation Medicine, we are dedicated to the pursuit of scientific excellence and rigorous research that catalyzes breakthroughs in cancer treatment. We collaborate with leading research institutions, physicians, scientists, and biopharmaceutical companies to advance this critical work. Explore our publications to discover our latest advances and insights on the impact of genomic testing on cancer care.
Selected Publications
Racial and Ethnic Inequities at the Practice and Physician Levels in Timely Next-Generation Sequencing for Patients With Advanced Non-Small-Cell Lung Cancer Treated in the US Community Setting
Author & Publication Date
Vidal G. et al. January 9, 2024
DOI
10.1200/OP.23.00253
Liquid Biopsy of Lung Cancer Before Pathological Diagnosis Is Associated With Shorter Time to Treatment
Author & Publication Date
Russo A. et al. January 31, 2024
DOI
10.1200/PO.23.00535
RAS/RAF Comutation and ERBB2 Copy Number Modulates HER2 Heterogeneity and Responsiveness to HER2-directed Therapy in Colorectal Cancer
Author & Publication Date
Singh H. et al. February 6, 2024
DOI
10.1158/1078-0432.CCR-23-2581
Real-World Clinical Performance of a DNA-Based Comprehensive Genomic Profiling Assay for Detecting Targetable Fusions in Nonsquamous NSCLC
Author & Publication Date
Mack P. et al. February 24, 2024
DOI
10.1093/oncolo/oyae028
Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results
Author & Publication Date
Mata D. et al. February 29, 2024
DOI
10.1111/his.15168
Precision needle-punch tumor enrichment from paraffin blocks improves the detection of clinically actionable genomic alterations and biomarkers
Author & Publication Date
Lin D. et al. February 19, 2024
DOI
10.3389/fonc.2024.1328512
Association of Timely Comprehensive Genomic Profiling With Precision Oncology Treatment Use and Patient Outcomes in Advanced Non-Small-Cell Lung Cancer
Author & Publication Date
Yorio J. et al. March 7, 2024
DOI
10.1200/PO.23.00292
Measurement of ctDNA Tumor Fraction Identifies Informative Negative Liquid Biopsy Results and Informs Value of Tissue Confirmation
Author & Publication Date
Rolfo C. et al. April 10, 2024
DOI
10.1158/1078-0432.CCR-23-3321
Real-World Overall Survival and Treatment Patterns by PTEN Status in Metastatic Castration-Resistant Prostate Cancer
Author & Publication Date
Gupta S. et al. March 28, 2024
DOI
10.1200/PO.23.00562
A process to reanalyze clinical DNA sequencing data for biomarker matching in the Lung-MAP Master Protocol
Author & Publication Date
Neal J. et al. April 10, 2024
DOI
10.1093/oncolo/oyae062
Genomic landscape of 891 RET fusions detected across diverse solid tumor types
Author & Publication Date
Parimi V. et al. January 23, 2023
DOI
10.1038/s41698-023-00347-2
Comparative Effectiveness of Immune Checkpoint Inhibitors vs Chemotherapy in Patients With Metastatic Colorectal Cancer With Measures of Microsatellite Instability, Mismatch Repair, or Tumor Mutational Burden
Author & Publication Date
Quintanilha J. et al. January 23, 2023
DOI
10.1001/jamanetworkopen.2022.52244
Durable responders in advanced NSCLC with elevated TMB and treated with 1L immune checkpoint inhibitor: a real-world outcomes analysis
Author & Publication Date
Huang R. et al. January 11, 2023
DOI
10.1136/jitc-2022-005801
BRAF V600E and RNF43 Co-mutations Predict Patient Outcomes With Targeted Therapies in Real-World Cases of Colorectal Cancer
Author & Publication Date
Quintanilha et al. March 17, 2023
DOI
10.1093/oncolo/oyac265
Mismatch repair deficiency, next-generation sequencing-based microsatellite instability, and tumor mutational burden as predictive biomarkers for immune checkpoint inhibitor effectiveness in frontline treatment of advanced stage endometrial cancer
Author and Publication Date
Hill B. et al. April 3, 2023
DOI
10.1136/ijgc-2022-004026
Not all TMB assays are the same: Clinical validity of robust algorithmic germline filtering
Author & Publication Date
Huang R. et al. April 13, 2023
DOI
10.1016/j.ccell.2023.03.017
Integrative Analysis of a Large Real-World Cohort of Small Cell Lung Cancer Identifies Distinct Genetic Subtypes and Insights into Histologic Transformation
Author & Publication Date
Sivakumar S. et al. April 6, 2023
DOI
10.1158/2159-8290.CD-22-0620
Comprehensive genomic profiling and treatment patterns across ancestries in advanced prostate cancer: a large-scale retrospective analysis
Author & Publication Date
Sivakumar S. et al. May 24, 2023
DOI
10.1016/S2589-7500(23)00053-5
A Novel HRD Signature Is Predictive of FOLFIRINOX Benefit in Metastatic Pancreatic Cancer
Author & Publication Date
Chen K. et al. June 23, 2023
DOI
10.1093/oncolo/oyad178
Unique Spectrum of Activating BRAF Alterations in Prostate Cancer
Author & Publication Date
Chehrazi-Raffle A. et al. July 20, 2023
DOI
10.1158/1078-0432.CCR-23-1393
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing
Author & Publication Date
Tung N. et al. August 11, 2023
DOI
10.1038/s41698-023-00429-1
Molecular residual disease detection in resected, muscle-invasive urothelial cancer with a tissue-based comprehensive genomic profiling-informed personalized monitoring assay
Author & Publication Date
Powles T. et al. July 30, 2023
DOI
10.3389/fonc.2023.1221718
Influencing Best Practices for Genomic and Germline Testing in Urology
Author & Publication Date
Shore N. et al. November 1, 2023
DOI
10.1097/UPJ.0000000000000454
Insights of Clinical Significance From 109 695 Solid Tumor Tissue-Based Comprehensive Genomic Profiles
Author & Publishing Date
Heilmann A. et al. September 8, 2023
DOI
10.1093/oncolo/oyad251
Circulating Tumor DNA Monitoring on Chemo-immunotherapy for Risk Stratification in Advanced Non-Small Cell Lung Cancer
Author & Publication Date
Pellini B. et al. November 14, 2023
DOI
10.1158/1078-0432.CCR-23-1578
Pan-Cancer Analysis of Copy-Number Features Identifies Recurrent Signatures and a Homologous Recombination Deficiency Biomarker to Predict Poly (ADP-Ribose) Polymerase Inhibitor Response
Author & Publication Date
Moore J. et al. September 28, 2023
DOI
10.1200/PO.23.00093
Real-World Genomic Profile of EGFR Second-Site Mutations and Other Osimertinib Resistance Mechanisms and Clinical Landscape of NSCLC Post-Osimertinib
Author & Publication Date
Rotow J. et al. October 6, 2023
DOI
10.1016/j.jtho.2023.09.1453
Tumor sequencing of African ancestry reveals differences in clinically relevant alterations across common cancers
Author & Publication Date
Jiagge E. et al. October 4 ,2023
DOI
10.1016/j.ccell.2023.10.003
Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study
Author & Publication Date
Westphalen C. et al. November 2, 2023
DOI
10.1016/j.esmoop.2023.102035
Homologous Recombination Deficiency Landscape of Breast Cancers and Real-World Effectiveness of Poly ADP-Ribose Polymerase Inhibitors in Patients With Somatic BRCA1/ 2, Germline PALB2, or Homologous Recombination Deficiency Signature
Author & Publication Date
Batalini F. et al. November 22, 2023
DOI
10.1200/PO.23.00091
Evaluation of tissue- and plasma-derived tumor mutational burden (TMB) and genomic alterations of interest in CheckMate 848, a study of nivolumab combined with ipilimumab and nivolumab alone in patients with advanced or metastatic solid tumors with high T
Author & Publication Date
He J. et al. November 30, 2023
DOI
10.1136/jitc-2023-007339
Circulating Tumor DNA Enables Sensitive Detection of Actionable Gene Fusions and Rearrangements Across Cancer Types
Author & Publication Date
Kasi P. et al. December 5, 2023
DOI
10.1158/1078-0432.CCR-23-2693
Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors
Author & Publication Date
Milbury C. et al. March 16, 2022
DOI
10.1371/journal.pone.0264138
Genomic landscape of non-small-cell lung cancer with methylthioadenosine phosphorylase (MTAP) deficiency
Author & Publication Date
Kumar P. et al. June 23, 2022
DOI
https://doi.org/10.1002/cam4.4971
PARP Inhibitor Insensitivity to BRCA1/2 Monoallelic Mutations in Microsatellite Instability-High Cancers
Author & Publication Date
Sokol E. et al. June 6, 2022
DOI
10.1200/PO.21.00531
Changes in Circulating Tumor DNA Reflect Clinical Benefit Across Multiple Studies of Patients With Non-Small-Cell Lung Cancer Treated With Immune Checkpoint Inhibitors
Author & Publication Date
Merino Vega D. et al. August 6, 2022
DOI
10.1200/PO.21.00372
Tumor Mutational Burden as a Predictor of First-Line Immune Checkpoint Inhibitor Versus Carboplatin Benefit in Cisplatin-Unfit Patients With Urothelial Carcinoma
Author & Publication Date
Graf R. et al. August 6, 2022
DOI
10.1200/PO.22.00121
Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound
Author & Publication Date
Chi K. et al. 2022
DOI
10.1158/1078-0432.CCR-22-0931
Real-World Comprehensive Genomic Profiling Success Rates in Tissue and Liquid Prostate Carcinoma Specimens
Author & Publication Date
Hiemenz M. et al. December 9. 2022
DOI
10.1093/oncolo/oyac181
SPOP Mutations as a Predictive Biomarker for Androgen Receptor Axis-Targeted Therapy in De Novo Metastatic Castration-Sensitive Prostate Cancer
Author & Publication Date
Swami U. et al November 14, 2022
DOI
10.1158/1078-0432.CCR-22-2228
Complementary Roles for Tissue- and Blood-Based Comprehensive Genomic Profiling for Detection of Actionable Driver Alterations in Advanced NSCLC
Author & Publication Date
Schwartzberg L. et al. August 2, 2022
DOI
10.1016/j.jtocrr.2022.100386
Comprehensive Genomic Profiling (CGP)-Informed Personalized Molecular Residual Disease (MRD) Detection: An Exploratory Analysis from the PREDATOR Study of Metastatic Colorectal Cancer (mCRC) Patients Undergoing Surgical Resection
Author & Publication Date
Lonardi S. et al. September 29, 2022
DOI
10.3390/ijms231911529
Prognostic value of plasma circulating tumor DNA fraction across four common cancer types: a real-world outcomes study
Author & Publication Date
Reichert Z. et al. October 5, 2022
DOI
10.1016/j.annonc.2022.09.163
Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples
Author & Publication Date
Husain H. et al. October 6, 2022
DOI
10.1200/PO.22.00261
Biology and Targetability of the Extended Spectrum of PIK3CA Mutations Detected in Breast Carcinoma
Author & Publication Date
Rugo H. et al. October 31, 2022
DOI
10.1158/1078-0432.CCR-22-2115
Early circulating tumor DNA dynamics as a pan-tumor biomarker for long-term clinical outcome in patients treated with durvalumab and tremelimumab
Author & Publication Date
Kansara M. et al. November 25, 2022
DOI
10.1002/1878-0261.13349
Comprehensive pan-cancer genomic landscape of KRAS altered cancers and real-world outcomes in solid tumors
Author & Publication Date
Lee J. et al. December 9, 2022
DOI
10.1038/s41698-022-00334-z
Quantifying the Value of Multigene Testing in Resected Early Stage Lung Adenocarcinoma
Author & Publication Date
Muthusamy B. et al. December 6, 2022
DOI
10.1016/j.jtho.2022.11.027
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer
Author & Publication Date
Sivakumar S. et al. December 5, 2022
DOI
10.1038/s41467-022-35245-x
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin
Author & Publication Date
Woodhouse R. et al. September 25, 2020
DOI
doi.org/10.1371/journal.pone.0237802