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In a paper published by Banerjee et al in JAMA Network Open, researchers reported that genetic testing is cost-effective and beneficial for newly diagnosed patients with metastatic gastrointestinal stromal tumors (GIST), a type of soft-tissue sarcoma that develops in specialized nerve cells in the...
Circulating tumor DNA (ctDNA) analysis is a minimally invasive genomic assessment tool utilizing targeted next-generation sequencing of peripheral blood. At the ESMO Virtual Congress 2020, Zengin et al reported genomic results from a large cohort of patients with metastatic renal cell carcinoma...
Nivolumab monotherapy showed high response and disease control rates in patients with pathogenic exonuclease domain POLE (edPOLE)-mutated, mismatch repair (MMR)-proficient advanced tumors containing confirmed pathogenic mutations, according to findings presented by Benoit J.C. Rousseau, MD, PhD, of ...
In the phase IIa plasmaMATCH platform trial reported in The Lancet Oncology, Nicholas C. Turner, MD, and colleagues found that circulating tumor DNA (ctDNA) provided accurate genotyping that permitted selection of directed therapies in patients with advanced breast cancer. Study Details The...
Research published by Zhang et al in the Journal of the National Cancer Institute showed that an inherited variation in the GATA3 gene strongly influences early response to chemotherapy and is linked to relapse in children with acute lymphoblastic leukemia (ALL). Minimal residual disease (MRD)...
In a letter to the editor published in The New England Journal of Medicine, Brandon A. Mahal, MD, and colleagues described genomic differences in prostate cancer in Black, White, and Asian men. Study Details The study involved next-generation sequencing data from patients who had been treated for...
As reported in The New England Journal of Medicine by Wolf et al, the phase II GEOMETRY mono-1 trial has shown durable responses with the selective MET inhibitor capmatinib in patients with advanced non–small cell lung cancer (NSCLC) and MET exon 14–skipping mutations. The trial supported the May...
KRAS G12C inhibitors—which at this point include AMG 510 (now labeled sotorasib) and MRTX849—are proving to be active in KRAS G12C–mutated tumors, especially non–small cell lung cancer (NSCLC). KRAS G12C is a newly “druggable” target, joining what is still a limited list of some 3,000 potential...
In a study reported in the Journal of Clinical Oncology, Alicia Léon-Castillo, MD, of Leiden University Medical Center, the Netherlands, and colleagues identified outcomes associated with molecular subgroups of patients with high-risk endometrial cancer enrolled in the PORTEC-3 trial of adjuvant...
On August 28, the U.S. Food and Drug Administration (FDA) approved FoundationOne Liquid CDx, a comprehensive pan-tumor liquid biopsy test for patients with solid tumors. FoundationOne Liquid CDx is a comprehensive genomic-profiling test that analyzes more than 300 cancer-related genes and multiple...
Scientists have newly discovered three genetic changes that increase the risk of breast cancer in men. These findings were published by Maguire et al in the Journal of the National Cancer Institute. The researchers identified three common variations in DNA that predispose men to developing breast...
As reported in the Journal of Clinical Oncology by Salama et al, the NCI-MATCH trial subprotocol H (EAY131-H) has shown durable responses with dabrafenib plus trametinib in previously treated patients with BRAF V600E–mutant tumors. Study Details The study enrolled 35 patients with mixed-histology...
“In line with the emergence of targeted therapies, molecular biomarker testing in metastatic colorectal cancer has evolved over the past decade,” noted Jeanne Tie, MD, MBChB, FRACP, who acknowledged there is confusion about the best ways to use molecular testing in the clinic. Dr. Tie, who is...
Recently, the U.S. Food and Drug Administration (FDA) approved the first liquid biopsy companion diagnostic that also uses next-generation sequencing technology to identify patients with non–small cell lung cancer (NSCLC) and specific types of EGFR mutations. The FDA also granted Fast Track...
After years of development, engineering, and enhancement, researchers at St. Jude Children’s Research Hospital in Memphis have made available a software system that enables better detection of gene fusions. The system, called CICERO, offers additional insights into cancers as well as new targets...
A new study has found that a higher-than-expected proportion of young adults with cancer harbor genetic germline mutations that have implications for treatment, surveillance, and other family members who may be at risk. Patients with “early-onset cancers”—cancers that typically do not occur in...
Although NTRK gene fusions occur in less than 5% of gastrointestinal cancers, it looks like they can be targeted successfully with NTRK inhibitors. In a pooled analysis of three clinical trials, 50% of such patients responded to entrectinib, in an updated analysis presented during the 2020 virtual...
Considered the “guardian of the genome,” TP53 is the most commonly mutated gene in patients with cancer. TP53's normal function is to detect DNA damage and prevent cells from passing this damage on to daughter cells. When TP53 is mutated, the protein made from this gene, called p53, can no longer...
In a study of genome-wide somatic alterations in multiple myeloma reported in the Journal of Clinical Oncology, Samur et al identified a subgroup of patients with superior outcomes who are not adequately identified by traditional risk markers. The study involved analysis of deep whole-genome...
In a retrospective cohort study reported in the Journal of Clinical Oncology, Matteo Lambertini, MD, PhD, and colleagues found that pregnancy after breast cancer in women harboring deleterious germline BRCA mutations did not appear to be associated with worsened maternal prognosis or fetal...
Drs. Ramalingam, Brahmer, and Wakelee review the role of KRAS G12C mutation in lung cancer, which is found is 13% of all non–small cell lung cancer. They highlight two investigational therapies, AMG 510 and MRTX 849, and discuss recently presented data.
In a study reported in JCO Oncology Practice, Stephanie L. Graff, MD, and colleagues found that patients with breast cancer seen by a physician with training in using an established pathway for genetic counseling and testing referral were more frequently referred for such services vs patients seen...
In a preplanned secondary analysis of the BRE12-158 trial published in JAMA Oncology, Milan Radovich, PhD, and colleagues found that the presence of circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) in the plasma of women who have received neoadjuvant treatment for stage I, II, or...
New research published by Douglas et al in JNCCN—Journal of the National Comprehensive Cancer Network examined coverage trends for circulating tumor DNA (ctDNA) testing, also known as liquid biopsy. In the first-ever study to analyze insurance coverage for ctDNA-based panel tests, researchers found ...
According to the National Cancer Institute, each year, about 70,000 adolescents and young adults (AYAs)—those between the ages of 15 and39—are diagnosed with cancer.1 Evidence suggests that some cancers found in AYAs may have unique genetic and biologic features. The findings of a recent study by...
An international panel of experts led by researchers and thought leaders at the Sidney Kimmel Cancer Center–Jefferson Health (SKCC) and the Department of Urology at Jefferson have published the first multidisciplinary, consensus-driven, prostate cancer genetic implementation framework for the...
Scientists studying a common TP53 R337H variant found among people of Brazilian descent discovered that a variant in the tumor-suppressor gene XAF1 increases cancer risk when combined with the inherited TP53 R337H mutation. These findings were published by Pinto et al in Science Advances. “We...
According to the National Cancer Institute, each year, about 70,000 adolescents and young adults (AYA)—those between the ages of 15 and 39—are diagnosed with cancer. Evidence suggests that some cancers found in AYA patients may have unique genetic and biologic features. A study that investigated...
As reported in the Journal of Clinical Oncology by Chae et al, findings in a cohort of the phase II NCI-MATCH trial (EAY131, Subprotocol W) indicated that the oral inhibitor of fibroblast growth factor receptor 1, 2, and 3 (FGFR1–3), AZD4547, produced a small number of responses in patients with a...
Patients with metastatic pancreatic cancer who had germline or somatic mutations in DNA repair genes had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations, according to results from a study published by Park et al in Clinical Cancer Research....
In a study reported in the Journal of Clinical Oncology, Mark Bustoros, MD, and colleagues identified genomic features of smoldering multiple myeloma associated with a higher risk of progression to multiple myeloma and found that alterations that drive disease progression are already present at the ...
The RET inhibitor pralsetinib showed activity in patients with a broad variety of tumors harboring RET gene fusions, according to results from the phase I/II ARROW trial, presented by Vivek Subbiah, MD, and colleagues during the ASCO20 Virtual Scientific Program (Abstract 109). “This trial shows...
Genetic testing for cancer risk can significantly improve the prevention or treatment of hereditary cancers, but studies have shown that people who might have a genetic risk often don't get tested. A collaborative team of researchers have tested a possible solution through a clinical trial aimed at ...
Although 84% of children with cancer survive 5 years or more, children with refractory, relapsed, and progressive high-risk malignancies have a poor median survival of 9.5 months. The German INFORM registry is a large prospective, noninterventional, multicenter study collecting clinical and...
In this edition of the Living a Full Life series, guest editor Jame Abraham, MD, FACP, spoke with John Craig Venter, PhD, Founder, Chairman, and Chief Executive Officer of the J. Craig Venter Institute, a nonprofit organization dedicated to human, microbial, and environmental genomic research. A...
An international consortium of researchers has identified a mutation involved in a person’s susceptibility to lung cancer. This variant could help identify certain populations at greater risk for lung cancer, according to results reported by Ji et al in Nature Communications. ATM Variant Their...
On May 8, 2020, the U.S. Food and Drug Administration (FDA) granted accelerated approval to selpercatinib (Retevmo) for the following indications: Adult patients with metastatic RET fusion–positive non–small cell lung cancer (NSCLC) Adult and pediatric patients ≥ 12 years of age with advanced or...
As germline genetic testing becomes more widespread among patients with breast cancer, recommendations for the appropriate management of patients with hereditary breast cancer are needed. Until now, no ASCO guideline has addressed the management of hereditary breast cancer, even for carriers of...
The Circulating Cell-free Genome Atlas Study is a large multicenter, case-controlled, observational study of 15,254 participants, 56% with cancer and 44% without cancer, with longitudinal follow-up to support the development of a cell-free DNA (cfDNA) multicancer early detection test. In this phase ...
The results from the first in-human phase I clinical trial in the United States evaluating CRISPR-Cas9–edited T cells in patients with advanced cancer has shown that the therapy is both feasible and safe, representing a big step forward in the potential of using gene editing to boost the natural...
The loosening of restrictions on genetic testing would mean that all health-care providers could help move this needle to where it should be, according to Kevin S. Hughes, MD, a surgeon at Massachusetts General Hospital, Professor of Surgery at Harvard Medical School, and Medical Director of the...
Researchers have developed the first blood test that can accurately detect more than 50 types of cancer and identify in which tissue the cancer originated—often before there are any clinical signs or symptoms of the disease. These findings were published by Liu et al in Annals of Oncology. In their ...
In a first-in-human phase I trial reported in the Journal of Clinical Oncology, Desai et al found that the RAF family kinase inhibitor lifirafenib produced responses in several solid tumor types in patients with BRAF or KRAS/NRAS mutations. Study Details The study, conducted in Australia and New...
In a study reported in JCO Oncology Practice, Chambers et al found that use of molecular testing across tumor types often varied widely in several countries, sometimes reflecting regional differences in the incidence of cancer types. Study Details The study involved the use of aggregated results of ...
Routine genetic counseling and multigene testing of patients with pancreatic cancer result in the detection of mutations that are actionable, not only for patients, but also for at-risk family members. At the Dana-Farber Cancer Institute in Boston, the use of a systemized, automated referral system ...
In a study of the GeparOcto trial population reported in JAMA Oncology, Pohl-Rescigno et al found that presence of germline BRCA1/2 variants was associated with increased rates of complete pathologic response (pCR) to neoadjuvant chemotherapy in women with high-risk early breast cancer, and that a...
In a single-institution study reported in the Journal of Clinical Oncology, Yadav et al found that many women with breast cancer with germline pathogenic genetic variants do not qualify for genetic testing on current National Comprehensive Cancer Network® (NCCN®) hereditary testing criteria....
On January 9, 2020, avapritinib was approved for treatment of adults with unresectable or metastatic gastrointestinal stromal tumors (GIST) harboring a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation, including D842V mutations.1,2 It is the first therapy approved for...
In a study reported in the Journal of Clinical Oncology, Talia Golan, MD, and colleagues identified geographic and ethnic heterogeneity of germline BRCA1/2 mutation prevalence among patients screened for entry into the phase III POLO trial, which examined the efficacy of olaparib maintenance...
Routine genetic counseling and multigene testing of patients with pancreatic cancer result in the detection of mutations that are actionable, not only for patients, but also for at-risk family members. At the Dana-Farber Cancer Institute, the use of a systemized, automated referral system that does ...