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...
Identifying Genetic Basis for Extraordinary Clinical Responses May Accelerate Development of New Therapies
Accelerating the discovery of targeted cancer therapies requires defining the targets present in individual tumors, and there are two main ways to do this, David B. Solit, MD, told participants at the inaugural OncoSET Symposium: Emerging Approaches to Precision Medicine in Chicago.1 The...
How Watson for Oncology Is Advancing Personalized Patient Care
After undergoing nearly 5 years of intensive medical training, IBM’s Watson for Oncology cognitive computing system is starting to make good on its promise to accelerate personalized care for patients with cancer. The system has been trained by oncologists at Memorial Sloan Kettering Cancer Center ...
Olivier Tredan, MD, PhD, on Advanced Refractory Cancer and Molecular Screening
Olivier Tredan, MD, PhD, of the Centre Léon Bérard, discusses results from ProfilER, a study that explored the use of cancer cell genomic alterations to guide treatment in patients with advanced refractory cancer. (Abstract LBA100)
At the Forefront of Cancer Genetics, Bert Vogelstein, MD, Calls for Focus on Early Detection and Prevention
Bert Vogelstein, MD, was born on June 2, 1949, at The Johns Hopkins Hospital in Baltimore, Maryland, the same renowned institution where he would later make his mark in the field of cancer genetics. As a young teen, he was an enthusiast and independent consumer of books, one of which helped shape...
Nobel Laureate David Baltimore, PhD, Plays Integral Role in Linking Cell Biology and Cancer Genetics
David Baltimore, PhD, whose work profoundly influenced international science, was born on March 7, 1938, in Queens, New York, to Gertrude and Richard Baltimore. While he was in second grade, the family moved to Great Neck, New York, a middle-class suburb with top-notch public schools. “My father...
Key Gene Controlling Tumor Growth in Gliomas Pinpointed
Cedars-Sinai investigators have identified a stem cell–regulating gene that affects tumor growth in patients with brain cancer and may strongly influence survival rates of patients. The findings, published by Edwards et al in Scientific Reports,1 may move physicians closer to their goal of better...
Germline Genetic Testing and Treatment Decisions in Early-Stage Breast Cancer
As reported in the Journal of Clinical Oncology by Allison W. Kurian, MD, of Stanford University School of Medicine, and colleagues, surveys in a population-based sample of patients recently diagnosed with breast cancer indicate that many undergo genetic risk testing without seeing a genetics...
Provision of Genetic Services to Women With Breast Cancer: We Must Do Much Better
Genetic testing for inherited cancer susceptibility is increasingly part of the care of cancer patients and their relatives. Early clinical guidelines recommended BRCA1/2 testing for women diagnosed with breast or ovarian cancer if they also have a significant family cancer history or Ashkenazi...
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®): 2017 Guidelines
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®): 2017 Guidelines In 1996, the National Comprehensive Cancer Network® (NCCN®) published its first set of Clinical Practice Guidelines in Oncology®, covering 8 tumor types. Guidelines are now published for more than 60 tumor types and...
Suboptimal Genetic Testing and Counseling Among Women With Newly Diagnosed Breast Cancer
In a population-based study reported in a research letter in JAMA, Allison W. Kurian, MD, of Stanford University School of Medicine, and colleagues found that genetic testing and genetic counseling are suboptimal among women with newly diagnosed breast cancer.1 Study Details The study involved...
Recognizing Major Role of Random Mutations in Causing Cancer Does Not Diminish Importance of Primary Prevention
Random mistakes made during DNA replication are responsible for about two-thirds of the mutations that cause human cancers, according to a study reported in Science.1 Recognizing the role of these replication errors “does not diminish the importance of primary prevention but emphasizes that not all ...
‘It Is What It Is’
Mark looked at me shyly through his oversized Elvis Costello–style glasses. Was he feeling embarrassed by his own reply or just waiting for my reaction? He was sitting between his mom and dad, wearing a t-shirt with a huge Minion print. His braces showed when he smiled, something he does often in...
Angela R. Bradbury, MD, on Genetic Information and Clinical Care
Angela R. Bradbury, MD, of the University of Pennsylvania, discusses genetic testing, tumor profiling, and the identification of those at increased risk for second cancers.
ASCO, AMP, and CAP Issue New Joint Guidelines to Standardize Interpretation and Reporting of Sequence Variants in Cancer
On December 16, a set of joint guidelines developed by ASCO, the Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) on standardizing the interpretation and reporting of sequence variants in cancer was published online, ahead of the January print issue of The...
Understanding Cancer Epigenetics and Its Clinical Implications
The field of epigenetics emerged in the 1990s and has been described with somewhat variable meanings. In 2008, a meeting at the Cold Spring Harbor laboratory arrived at a definition of epigenetics by consensus: “A stably heritable phenotype resulting from changes in a chromosome without...
Use of Genetic Testing to Identify Patients With Breast Cancer at High Risk for Venous Thromboembolism
Venous thromboembolism is a serious—and sometimes fatal—complication of cancer and chemotherapy treatment. Since breast cancer is one of the most common cancers, it accounts for a large number of cancer-related cases of venous thromboembolism. Routine thromboprophylaxis, however, is not recommended ...
Expert Point of View: Leif Ellisen, MD, PhD
Results of this trial have been anticipated for a long time. Women were enrolled between 2000 and 2008,” said Leif Ellisen, MD, PhD, Program Director of Breast Medical Oncology at Massachusetts General Hospital Cancer Center in Boston. Regarding the survival advantage in triple-negative...
BRCA Status Does Not Seem to Affect Survival Outcomes in Young Women With Early Breast Cancer
Young women who carry the BRCA1 and/or BRCA2 mutation and develop breast cancer seem to have similar survival compared with young women who have BRCA-negative breast cancer. However, women with BRCA-positive triple-negative breast cancer have an 11% survival advantage compared with those with...
Genomic Landscape of Metastatic Breast Cancer Differs From That of Primary Breast Cancer
Researchers working on whole-exome and transciptome sequencing of endocrine-resistant estrogen receptor–positive metastatic breast cancer have shown that the mutational landscape differs from that of estrogen receptor–positive primary breast cancer, and these differences have the potential to...
