Nicholas C. Turner, MD, PhD, on ctDNA Testing to Direct Targeted Therapies in Advanced Breast Cancer
Nicholas C. Turner, MD, PhD, of The Royal Marsden NHS Foundation Trust, discusses findings from the plasmaMATCH trial, which showed that circulating tumor DNA testing offers accurate tumor genotyping to identify patients with rare HER2 and AKT1 mutations and may enable matching them with targeted treatments (Abstract GS3-06).
Ilaria Iacobucci, PhD, on AML and MDS: Moving Beyond Gene Panel–Based Classifications
Ilaria Iacobucci, PhD, of St. Jude Children’s Research Hospital, discusses her work to more accurately define mutation subtypes in acute myeloid leukemia and myelodysplastic syndromes, as well as the implications for diagnosis, prognosis, and treatment (Abstract LBA-4 ).
ASH 2019: Genomic Features of AML in Patients Aged 60 or Older May Predict Stem Cell Transplant Outcome
For older patients with acute myeloid leukemia (AML), the prospects for success of a stem cell transplant can often be predicted based on the particular set of leukemic genetic characteristics, according to results presented by Murdock et al at the 2019 American Society of Hematology (ASH) Annual...
FDA Pipeline: Recent Designations in Hepatocellular Carcinoma, Cholangiocarcioma, Lymphoma, and More
Over the past few weeks, the U.S. Food and Drug Administration (FDA) granted reviews or designations to treatments for gastrointestinal cancers and lymphoma, and also provided authorizations for products designed to screen for malignancies and tumor mutational burden. Priority Review for Nivolumab...
Factors in Genetic Testing Decisions Among Women With a Personal and Family History of Breast Cancer
In a study reported in the Journal of Oncology Practice, Scott et al identified several factors that motivated breast cancer survivors with high genetic risk to undergo genetic testing and found that clinicians often failed to discuss all relevant factors in decision-making. Study Details The...
Gene Signature to Identify Benefit of Front-Line Fludarabine, Cyclophosphamide, and Rituximab in IGHV-Unmutated CLL
In a retrospective cohort study reported in The Lancet Oncology, Herling et al identified a 17-gene signature that distinguished patients with IGHV-unmutated chronic lymphocytic leukemia (CLL) more likely to achieve long-term remission after front-line chemoimmunotherapy with fludarabine,...
BRAF and MEK Inhibition in Advanced Melanoma With Rare BRAF Mutations
In a study reported in the Journal of Clinical Oncology, Menzer et al found that combined BRAF/MEK inhibitor therapy appeared to be more active than single-inhibitor therapy in advanced melanoma with rare BRAF mutations. Study Details The study involved data from 103 patients with advanced melanoma ...
ASCO Breakthrough: Breast Cancer Gene-Expression Signature May Help Predict Recurrence Postradiotherapy
Researchers have identified a gene pattern that may help predict which patients with breast cancer will have early or late disease recurrence following radiation therapy. The ability to predict the timing of recurrence could change—and improve—treatment strategies and determine the length of...
ASCO Breakthrough: Effect of ATM Mutations on Response to Radiotherapy
Somatic mutations of DNA damage repair genes like ATM and BRCA1 or BRCA2 may result in poor disease prognosis and chemotherapy resistance. However, a study by Lee et al presented at ASCO Breakthrough: A Global Summit for Oncology Innovators (Abstract 130) investigated the possibility that these...
Patients With Metastatic Colorectal Cancer Carrying Class 3 BRAF Mutations May Respond to Anti-EGFR Therapy
Although between 8% and 12% of patients with metastatic colorectal cancer harbor a BRAF gene mutation, not all non-V600 BRAF alterations respond to EGFR antibody treatment, according to findings from a study by Yaeger et al published in Clinical Cancer Research. The study investigated whether...
POLE/POLD1 Mutations Across Cancer Types and Association With Immune Checkpoint Inhibitor Therapy Outcomes
In a research letter published in JAMA Oncology, Wang et al identified the frequency of mutations in DNA polymerase epsilon (POLE) and delta 1 (POLD1) genes across cancer types and found that these mutations were associated with better survival outcomes among patients receiving immune checkpoint...
USPSTF Recommendation on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer
As reported in JAMA, the U.S. Preventive Services Task Force (USPSTF) recommended risk assessment and, if indicated, genetic counseling and testing for potentially harmful BRCA1/2 mutations in women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have...
Chromosomal Abnormalities and Prognosis in NPM1-Mutant AML
In a study reported in the Journal of Clinical Oncology, Angenendt et al found that adverse-risk cytogenetics were associated with significantly poorer outcomes vs normal karyotype among patients with acute myeloid leukemia (AML) with a nucleophosmin 1 (NPM1) mutation. As stated by the...
How Technology Is Transforming the Assessment of Inherited Cancer Risk
ASCO published its first statement on genetic testing and its impact on oncology practice over 2 decades ago. Since then, ASCO has revised the statement three times, the most recent in 2015, in response to advances propelled by the sequencing and mapping of the human genome and the identification...
How Laura J. van ’t Veer, PhD, Became an Expert in Genetic Testing for Breast Cancer
Breast cancer researcher and innovator Laura J. van ’t Veer, PhD, was born and reared in Amsterdam in 1957. “During high school, I had a wonderful biology teacher who was going through his own biology studies at the University of Amsterdam, and he was bringing that university-level education into...
Emerging Interest in Metabolic Pathways to Tumorigenesis
Although genetic aberrations are considered a major reason for cancer development, the importance of metabolic alterations in cancer development has emerged as a crucial aspect of contemporary cancer research. Better understanding of the metabolic traits in cancer cells could aid researchers in...
Henry T. Lynch, MD, Trailblazer in Hereditary Cancers, Dies at 91
Henry T. Lynch, MD, widely known as “the father of cancer genetics,” had an early life that could have been lifted from the pages of a Louis L’Amour novel. He dropped out of high school and using a falsified birth certificate joined the U.S. Navy at 16 years old, serving as a gunner on a marine...
Two Pediatric Trials Find Targets for Treatment-Refractory Cancers
An interim analysis of the large Pediatric MATCH trial found that 24% of children and young adolescents with cancers refractory to current treatments had been assigned to treatment with investigational targeted study agents based on genetic alterations detected in their tumors,1 which is more than...
ASCO Clinical Opinion Recommends Germline Testing for All Patients With Pancreatic Cancer
The recently released ASCO Clinical Practice Provisional Clinical Opinion on Evaluating Susceptibility to Pancreatic Cancer highlights the importance of emerging data indicating a relatively high rate of germline mutations in pancreatic cancer.1 Recent studies have demonstrated that up to 1 in 10...
Human Gene Therapy: Progress and Oversight
The early debate over the social and ethical implications of gene therapy led the National Institutes of Health (NIH) to establish the Recombinant DNA Advisory Committee in 1974. However, the risks of human gene therapies were largely unknown until 1999, when a patient died of a massive immune...
American Society of Breast Surgeons Recommends Genetic Testing for Newly Diagnosed Patients With Breast Cancer
IN A MOVE that is a significant departure from current testing recommendations, the American Society of Breast Surgeons (ASBrS) recommends that genetic testing be available to all individuals newly diagnosed with breast cancer.1 The new recommendations expand on common restrictions by the National...
Role of Genomic Profiling in Younger Patients With Cancer
Although overall cancer survival rates continue to improve among all age groups in the United States—there are currently an estimated 15.5 million cancer survivors, and that number is expected to increase to 20.3 million by 20261—survival rates for adolescents and young adults with cancer (AYAs)...
Dejan Juric, MD, on Advanced Breast Cancer: Results From the SOLAR-1 Trial
Dejan Juric, MD, of Massachusetts General Hospital, discusses phase III study findings on liquid biopsy–based assessment of PIK3CA mutational status and the combination of the selective PI3K-alpha inhibitor alpelisib plus fulvestrant in the treatment of advanced breast cancer (Abstract GS3-08).
Judy E. Garber, MD, on Cancer Genetics: Updates for Breast Cancer Care
Judy E. Garber, MD, of the Dana-Farber Cancer Institute, summarizes a special session she moderated, which included discussion of polygenic risk scores, genetic testing in diverse populations, and what to do when presented with moderate-penetrance mutations.
Patient-Partnered Research: Focal Point of New Collaborative Effort in Cancer Genetics
Researchers, patients with cancer, and philanthropists have come together to launch Count Me In, a nonprofit organization aimed at patient-partnered research. Count Me In allows patients with cancer anywhere in the United States or Canada to easily share their medical information, personal...
ADVISE PATIENTS ABOUT THE IMPLICATIONS OF RACIAL DISPARITIES FOR BREAST CANCER SCREENING
“BLACK WOMEN are more likely to develop breast cancer at a younger age, compared with white American women, and at all ages, younger and older individuals are more likely to develop triple-negative breast cancers,” Lisa A. Newman, MD, MPH, told The ASCO Post. “So, I think it is very clear that if...
Obligation to Evaluate Racial/Ethnic Features That May Affect Outcomes for Patients With Breast Cancer
"WE ABSOLUTELY have an obligation to evaluate all of the features describing our patients with cancer when we are trying to figure out why some patients do better than others,” Lisa A. Newman, MD, MPH, reminded the nearly 700 participants at the 2018 Lynn Sage Breast Cancer Symposium, hosted by...
Without Genomic Sequencing, I Would Not Be Alive Today
The extreme fatigue I experienced during the winter of my fourth year in medical school, in 2003, was easily attributable to the rigors of my medical training and the lack of sleep that comes from trying to keep up with an intensely busy schedule. I was looking forward to resting and recuperating...
Everolimus Tablets for Oral Suspension for Tuberous Sclerosis Complex–Associated Partial-Onset Seizures
On April 10, 2018, the U.S. Food and Drug Administration approved everolimus tablets for oral suspension (Afinitor Disperz) for the adjunctive treatment of adult and pediatric patients aged ≥ 2 years with tuberous sclerosis complex–associated partial-onset seizures.1,2 Tuberous sclerosis complex is ...
Arul Chinnaiyan, MD, PhD, Granted NCI Award to Investigate Cancer Genomics
Arul Chinnaiyan, MD, PhD, of the University of Michigan Rogel Cancer Center, has received an Outstanding Investigator Award from the National Cancer Institute (NCI) that provides $6.5 million in funding over 7 years. The grant will fund research to create new bioinformatics resources and identify...
NIH Grants Funding to Collaboration for Genomic Research Program
The National Institutes of Health (NIH) recently awarded inaugural funding to the genetic testing firm Color, in partnership with the Broad Institute of the Massachusetts Institute of Technology and Harvard, and the Laboratory for Molecular Medicine at Partners HealthCare, to establish one of three ...
Next-Generation Sequencing: New Technology That Requires Further Thought
Next-generation sequencing is used with increasing frequency to provide essential information about a patient’s diagnosis and treatment. In recent months, the U.S. Food and Drug Administration (FDA) has approved several new next-generation sequencing diagnostic tools, and the Centers for Medicare...
Expect Questions About Genetic Testing for Breast Cancer
A STUDY finding that pathogenic variants in 5 genes are associated with a high risk of triple-negative breast cancer and a 20% lifetime risk for overall breast cancer1 may increase interest in genetic testing. “This is the first study to establish which genes are associated with high lifetime risks ...
Mutations in Five Genes Linked to Higher Lifetime Risks for Aggressive Breast Cancer
USING MULTIGENE hereditary cancer panels to test for mutations in five genes can identify women at high risk for triple-negative breast cancer who may then benefit from more frequent screening, risk management, and potentially targeted therapies as well. A study that looked at multigene panel...
Is Some DNA Worthless?
BOOKMARK Title: Junk DNA: A Journey Through the Dark Matter of the GenomeAuthor: Nessa CareyPublisher: Columbia University PressOriginal publication date: April 2015Price: $22.95, paperback, 360 pages When biologists first delved into the human wonder of genes in the 1970s, they eventually...
Multiple-Gene Sequencing vs BRCA1/2-Alone Testing After Breast Cancer Diagnosis
In a retrospective cohort study reported in JAMA Oncology by Allison W. Kurian, MD, of Stanford University School of Medicine, and colleagues found that use of germline multiple-gene sequencing has become more common than BRCA1/2-alone sequencing after breast cancer diagnosis in clinical practice. ...
MSI-High Status and Lynch Syndrome Found in Surprising Variety of Cancers
In a study that many consider to be practice-changing, Lynch syndrome, a hereditary cancer predisposition syndrome, was found in many persons who would not ordinarily be suspected of having it.1 The study, which was presented at the 2018 ASCO Annual Meeting, has implications for broader testing...
Expert Point of View: Bruce Johnson, MD, FASCO
“PRECISION MEDICINE is driving the most exciting and powerful advances in cancer care today, particularly in lung cancer. It’s encouraging to see that next-generation genetic testing tools can help physicians and their patients get the crucial genomic information needed to make treatment decisions, ...
Decision-Analytic Model Finds Upfront, Comprehensive Genetic Testing in Advanced Lung Cancer Is Cost-Efficient
AN ECONOMIC model comparing different types of genetic testing in metastatic non–small cell lung cancer (NSCLC) found using next-generation sequencing to test for all known lung cancer–related gene changes at the time of diagnosis was less costly and faster than sequentially testing one or a...
Nathan A. Pennell, MD, PhD, on NSCLC: Lowering Genetic Testing Costs
Nathan A. Pennell, MD, PhD, of the Cleveland Clinic, discusses the economic impact of next generation sequencing vs sequential single-gene testing modalities to detect genomic alterations in newly diagnosed metastatic non–small cell lung cancer (Abstract 9031).
NIH Completes In-Depth Genomic Analysis of 33 Cancer Types
Researchers funded by the National Institutes of Health (NIH) have completed a detailed genomic analysis, known as the PanCancer Atlas, on a data set of molecular and clinical information from over 10,000 tumors representing 33 types of cancer, according to a release issued by the NIH late last...
A Love of Science Leads to an Esteemed Career in Cancer Research for Razelle Kurzrock, MD
Razelle Kurzrock, MD, regarded internationally for her work in translational science, was born and reared in Toronto, Canada. “My parents were immigrants from Eastern Europe. My father, who was Jewish, was a Holocaust survivor. My parents put a strong emphasis on education,” she said. ‘The...
Minimal Residual Disease in Acute Myeloid Leukemia: Mutation Matters
A RECENT article in The New England Journal of Medicine explored the nuances of minimal/measurable residual disease testing after induction treatment of acute myeloid leukemia (AML)1 and David P. Steensma, MD, and Benjamin L. Ebert, MD, PhD, of Dana-Farber Cancer Institute and Harvard Medical...
NIH Completes In-Depth Genomic Analysis
RESEARCHERS FUNDED by the National Institutes of Health (NIH) have completed a detailed genomic analysis, known as the Pan-Cancer Atlas, on a data set of molecular and clinical information from over 10,000 tumors representing 33 types of cancer. The Pan-Cancer Atlas, published as a collection of...
Making Personalized Medicine a Reality for More Patients With Cancer
This past September, Olivier Elemento, PhD, Associate Director of the Institute for Computational Biomedicine and Director of the Laboratory of Cancer Systems Biology at Weill Cornell Medicine in New York, was named Director of Weill Cornell’s Englander Institute for Precision Medicine. In this...
National Cancer Institute Awards $12 Million for Breast Cancer Genetics Study
A large study headed by researchers at the Keck School of Medicine of the University of Southern California and two other institutions received $12 million in funding to examine why African American women seem to have more aggressive breast tumors and higher mortality rates from breast cancer than...
Role of the E7 Gene in High-Risk HPV
NATIONAL CANCER INSTITUTE (NCI) researchers have found that for the most common high-risk type of human papillomavirus (HPV) to cause cervical cancer, an important viral gene may need to have a precise DNA sequence. The findings, published by Mirabello et al in Cell,1 contribute to a better...
Update on NCI-MATCH Precision Medicine Trial
THE NATIONAL CANCER INSTITUTE (NCI) Molecular Analysis for Therapy Choice (MATCH) clinical trial has achieved the goal of screening nearly 6,000 patients in just under 2 years, according to data presented at the 2017 American Association for Cancer Research–NCI–European Organisation for Research...
Convergence of Precision Medicine and Immuno-oncology
“THE CONVERGENCE of two very hot and interesting topics—precision medicine and immuno-oncology”—is being advanced by next-generation sequencing, Douglas B. Johnson, MD, MSCI, made clear at the inaugural OncoSET Symposium: Emerging Approaches to Precision Medicine,” sponsored by the Robert H. Lurie ...
Update on NCI Projects Aimed at Advancing Precision Medicine
“PRECISION MEDICINE will lead to fundamental understanding of the complex interplay among genetics, epigenetics, nutrition, environment and clinical presentation, and direct effective, evidence-based prevention and treatment. We can’t measure all that all at once right now, but we are starting to...
