ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2018
Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
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Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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72citing papers in PubMed, 1 pooled it
3.7field-weighted citation impact, top 5% of its field
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- The Prognostic Value of Plasma Cell-Free DNA Concentration in the Prostate Cancer: A Systematic Review and Meta-Analysis.Frontiers in oncology · 2021Pooled it
- Trial
- The evolution of hereditary cancer genetic counselling: mainstreaming, service redesign and patient experience in Lynch syndrome.Familial cancer · 2026Review
- Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.International journal of molecular sciences · 2026Article
- Concordance between Tumor Tissue and Plasma DNA Genotyping in the NCI-MATCH Trial (EAY131).Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Circulating tumor DNA in patients with cancer: insights from clinical laboratory.Advances in laboratory medicine · 2025Review
- Article
- Round-Robin Comparison of RET Rearrangement Detection in ctDNA: A Novel Method for Limited Clinical Samples.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Germline genomic profiling of patients with early-onset colorectal cancer.ESMO gastrointestinal oncology · 2025Article
- Genomic and transcriptomic sequencing in prostate cancer.Current opinion in oncology · 2025Review
- "Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.The oncologist · 2025Article
- Beyond Hormone Receptors: liquid biopsy tools to unveil new clinical meanings and empower therapeutic decision-making in Luminal-like metastatic breast cancer.Breast (Edinburgh, Scotland) · 2025Review
- A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.Familial cancer · 2024Article
- The Role of Pharmacogenetic-Based Pharmacokinetic Analysis in Precise Breast Cancer Treatment.Pharmaceutics · 2024Review
- Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.British journal of cancer · 2024Article
- Poor compliance with germline testing recommendations in colorectal cancer patients undergoing molecular residual disease testing.Communications medicine · 2024Article
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Equitable Access to Genomic Molecular Testing for Australian Cancer Patients: Insights from the Victorian Precision Oncology Summit.Current oncology (Toronto, Ont.) · 2024Article
- Measurement of ctDNA Tumor Fraction Identifies Informative Negative Liquid Biopsy Results and Informs Value of Tissue Confirmation.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.British journal of cancer · 2024Review
12 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Thomas P SlavinThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Kimberly C BanksThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Darya ChudovaThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Geoffrey R OxnardThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Justin I OdegaardThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Rebecca J NagyThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Kar Wing Kevin TsangThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Susan L NeuhausenThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Stacy W GrayThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Massimo CristofanilliThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Angel A RodriguezThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Aditya BardiaThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Brian Leyland-JonesThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Mike F JanicekThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Michael LillyThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Guru SonpavdeThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Christine E LeeThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Richard B LanmanThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Funda Meric-BernstamThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Razelle KurzrockThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Jeffrey N WeitzelThomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.
Funding
Transgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI STANLEY R. HAMILTON · 1985 to 2026
$86.3MMentored Clinical Scientist Research Career Development Award (Parent K08)K08CA234394 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI SLAVIN, THOMAS PAUL · 2018 to 2019
$498kNCI NIH HHS K08 CA234394NCI NIH HHS P30 CA033572
Abstract
purposeTo determine the potential for detection of incidental germline cancer predisposition mutations through cell-free DNA (cfDNA) analyses in patients who underwent solid tumor somatic mutation evaluation. PATIENTS AND
methodsData were evaluated from 10,888 unselected patients with advanced (stage III/IV) cancer who underwent Guardant360 testing between November 2015 and December 2016. The main outcome was prevalence of putative germline mutations identified among 16 actionable hereditary cancer predisposition genes.
resultsMore than 50 cancer types were studied, including lung (41%), breast (19%), colorectal (8%), prostate (6%), pancreatic (3%), and ovarian (2%). Average patient age was 63.5 years (range, 18 to 95 years); 43% were male. One hundred and fifty-six individuals (1.4%) had suspected hereditary cancer mutations in 11 genes. Putative germline mutations were more frequent in individuals younger than 50 years versus those 50 years and older (3.0% v 1.2%, respectively; P < .001). Highest yields of putative germline findings were in patients with ovarian (8.13%), prostate (3.46%), pancreatic (3.34%), and breast (2.2%) cancer. Putative germline mutation identification was consistent among 12 individuals with multiple samples. Patients with circulating tumor DNA copy number variation and/or reversion mutations suggestive of functional loss of the wild-type allele in the tumor DNA also are described.
conclusionDetection of putative germline mutations from cfDNA is feasible across multiple genes and cancer types without prior mutation knowledge. Many mutations were found in cancers without clear guidelines for hereditary cancer genetic counseling/testing. Given the clinical significance of identifying hereditary cancer predisposition for patients and their families as well as targetable germline alterations such as in BRCA1 or BRCA2, research on the best way to validate and return potential germline results from cfDNA analysis to clinicians and patients is needed.
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