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Breast Cancer
Genomics/Genetics

Genetic Alterations Associated With Interval Breast Cancer Diagnosis

In a Swedish study reported in JAMA Oncology, Rodriguez et al identified characteristics of interval breast cancers—those diagnosed between two screening examinations—compared with screen-detected cancers on the basis of analysis of rare germline genetic deleterious protein-truncating variants. As...

Breast Cancer
Genomics/Genetics

Does Risk-Reducing Mastectomy Reduce the Risk of Breast Cancer—and Mortality?

Investigators have found that risk-reducing mastectomy decreases the risk of receiving a breast cancer diagnosis and the likelihood of mortality in female patients with BRCA1 or BRCA2 genetic variants, according to a recent study published by Metcalfe et al in the British Journal of Cancer....

Breast Cancer
Genomics/Genetics
Issues in Oncology

Shedding Light on Mechanisms Behind Fulvestrant Resistance in Advanced ER-Positive Breast Cancer

Researchers may have uncovered the factors contributing to hormone therapy resistance in some patients with advanced estrogen receptor (ER)-positive breast cancer, according to a recent study published by Kingston et al in Cancer Discovery. The findings may indicate drugs currently in development...

bladder cancer
genomics/genetics

David H. Aggen, MD, PhD, on Advanced Bladder Cancer: HER2 and PD-L1 Immunohistochemistry and HER2 Genomic Alterations

David H. Aggen, MD, PhD, of Memorial Sloan Kettering Cancer Center, discusses reportedly the first data to describe an inverse correlation between HER2 immunohistochemistry expression and PD-L1 combined positive score. According to Dr. Aggen, these and other findings by his team may provide a foundation for further HER2-directed advanced bladder cancer studies (Abstract 538).

Prostate Cancer
Genomics/Genetics

Is HRR Testing Underused in Patients With Prostate Cancer?

Despite being recommended in prostate cancer guidelines, homologous recombinant repair (HRR) mutation analysis is widely underused in patients with prostate cancer, according to real-world data presented at the 2024 ASCO Genitourinary Cancers Symposium (Abstract 210). A major implication of these...

Breast Cancer
Genomics/Genetics

Genetic Identification of Women at Lower Risk of Breast Cancer

In a retrospective analysis reported in JAMA Oncology, Bolze et al identified a group of women at low risk for breast cancer based on genetic analysis. The findings may support altering cancer screening in this low-risk group. As stated by the investigators, “Genetic information is not being used...

hematologic malignancies
genomics/genetics

Potential Clinical Uses of Identifying New Hematologic Malignancy Predisposition Gene

Hamish S. Scott, PhD, and Chris Hahn, PhD, both of Australia’s SA Pathology and Centre for Cancer, discuss ERG, a new predisposition gene for bone marrow failure and hematologic malignancy. Identifying causal germline ERG variants has direct clinical implications for diagnosis, counseling, surveillance, and treatment strategies, according to Drs. Scott and Hahn (Abstract LBA5).

Colorectal Cancer
Genomics/Genetics

DNA Mutational Profiling in Patients With Metastatic Colorectal Cancer

As reported in the Journal of Clinical Oncology by Innocenti et al, analysis of DNA mutational profiling in the phase III CALGB (Alliance)/SWOG 80405 trial of patients with metastatic colorectal cancer treated with bevacizumab or cetuximab with chemotherapy showed differences in outcome associated...

Leukemia
Genomics/Genetics

Menin Inhibitors in Patients With Advanced AML and Gene Mutations

Two new studies have demonstrated positive results from novel therapies targeting menin for the treatment of patients with relapsed or refractory acute myeloid leukemia (AML) with specific gene mutations, according to findings presented by Jabbour et al (Abstract 57) and Issa et al (Abstract 58) at ...

Myelodysplastic Syndromes
Genomics/Genetics

Potential Underlying Genetic Mutations Identified in Patients With Myelodysplastic Syndromes

Researchers may have uncovered the underlying mechanisms of gene mutations commonly seen in patients with myelodysplastic syndromes and other myeloid neoplasms, according to new findings presented by Chaudhry et al at the American Society of Hematology (ASH) Annual Meeting and Exposition (Abstract...

Lung Cancer
Genomics/Genetics

Encorafenib Plus Binimetinib in Metastatic NSCLC With BRAF V600E Mutation

On October 11, 2023, the BRAF inhibitor encorafenib (Braftovi) with the MEK inhibitor binimetinib (Mektovi) was approved for patients with metastatic non–small cell lung cancer (NSCLC) with a BRAF V600E mutation, as detected by a U.S. Food and Drug Administration (FDA)-approved test.1,2 The FDA...

Breast Cancer
Genomics/Genetics

Potentially Targetable Fusion RNAs May Be More Common in Metastatic Breast Cancer Than Previously Realized

Comprehensive profiling of fusion RNAs present in a large cohort of metastatic breast tumors revealed unique fusion mutations that may be therapeutically targetable, according to results presented at the 2023 San Antonio Breast Cancer Symposium (Abstract GS03-09). Fusion mutations occur when a...

Breast Cancer
Genomics/Genetics

Genetic Characteristics of HER2-Low Advanced Breast Cancers May Guide Treatment Selection

Researchers have revealed significant differences in the genetic characteristics of HER2-low advanced breast cancers, which may lead to the development of novel therapeutics for patients, according to recent findings presented by Kahn et al at the 2023 San Antonio Breast Cancer Symposium (Abstract...

prostate cancer
genomics/genetics

William J. Catalona, MD, on Genetic Testing in Prostate Cancer: Expert Review

William J. Catalona, MD, of Northwestern University Feinberg School of Medicine, reviews the genetic landscape in prostate cancer, including BRCA2 and ATM, two important mutations for aggressive disease; the clinical implications of germline testing such as guiding screening and disease management, as well as identifying patients at high risk for aggressive prostate cancer; and the role of somatic testing, especially in advanced disease.

Prostate Cancer
Genomics/Genetics

Outcomes With Olaparib in BRCA-Mutated Metastatic Castration-Resistant Prostate Cancer in the PROfound Trial

In an analysis of the phase III PROfound trial reported in the Journal of Clinical Oncology, Joaquin Mateo, MD, PhD, and colleagues found that olaparib improved outcomes vs abiraterone or enzalutamide among the subgroup of patients with metastatic castration-resistant prostate cancer who had...

Lung Cancer
Genomics/Genetics

Expert Point of View: Roy S. Herbst, MD, PhD

Roy S. Herbst, MD, PhD, cautioned that although FLAURA2 is a positive result, most patients will still develop drug resistance. “The result is really good and clearly positive, but if you look at the survival curves, there is still early overlap in a way that makes it unlikely this combination will ...

Lung Cancer
Genomics/Genetics

FLAURA2 Trial: Osimertinib Plus Chemotherapy Improves Outcomes in Advanced EGFR-Positive NSCLC

First-line treatment with osimertinib plus platinum-based chemotherapy achieved a statistically significant and clinically meaningful progression-free survival improvement compared with osimertinib alone in patients with advanced epidermal growth factor receptor (EGFR)-mutated non–small cell lung...

lung cancer
genomics/genetics

Benjamin Besse, MD, PhD, on EGFR-Mutated NSCLC: Update on Patritumab Deruxtecan in Previously Treated Disease

Benjamin Besse, MD, PhD, of the Gustave Roussy Cancer Centre, discusses phase II findings from the HERTHENA-Lung01 study, which showed patients with previously treated EGFR-mutated non–small cell lung cancer may benefit from the antibody-drug conjugate patritumab deruxtecan after EGFR tyrosine kinase inhibitor (TKI) and platinum-based chemotherapy (Abstract OA05.03). The phase III HERTHENA-Lung02 trial is ongoing.

Leukemia
Genomics/Genetics

Novel Assay May Help Detect and Treat Patients With AML

A novel assay may be effective at detecting a unique molecular marker in patients with acute myeloid leukemia (AML), according to a recent study published by Young et al in The Journal of Molecular Diagnostics. The new findings may revolutionize the way AML is detected and treated. Background AML...

Prostate Cancer
Genomics/Genetics

Researchers Identify Novel Genetic Variants Predictive of Prostate Cancer Risk and Severity

Researchers have compiled a comprehensive list of genetic variants that may be associated with the risk of developing prostate cancer, according to a recent study published by Wang et al in Nature Genetics. The new findings included major increases in representation among patients from racial and...

Lung Cancer
Genomics/Genetics

Addition of Amivantamab to Chemotherapy in First-Line Treatment of Advanced NSCLC With EGFR Exon 20 Insertions

The phase III PAPILLON study has shown that the addition of amivantamab-vmjw to chemotherapy significantly improved progression-free survival in the first-line treatment of advanced non–small cell lung cancer (NSCLC) with EGFR exon 20 insertions. The findings were presented at the European Society...

Genomics/Genetics
Kidney Cancer
Immunotherapy

Two New Studies Using CancerLinQ Data

Two new studies—presented by Drumheller et al and Vento et al at the 2023 ASCO Quality Care Symposium—utilized data from ASCO’s CancerLinQ® database (Abstracts 418 and 532). One study revealed deficiencies in biomarker testing and tracking in electronic health records, and the other analyzed...

Genomics/Genetics
Survivorship

Germline Cancer-Predisposing Variants and Increased Risk of Late Mortality From Subsequent Malignant Neoplasms in Long-Term Childhood Cancer Survivors

In an analysis from the St. Jude Lifetime Cohort (SJLIFE) and Childhood Cancer Survivor Study (CCSS) reported in The Lancet Oncology, Chen et al found that among long-term survivors of childhood cancers, carriers of germline cancer-predisposing variants were at an increased risk of late mortality...

Solid Tumors
Genomics/Genetics

FDA Expands Pediatric Indication for Entrectinib and Approves New Pellet Formulation

On October 20, the U.S. Food and Drug Administration (FDA) granted accelerated approval to the small-molecule tyrosine kinase inhibitor entrectinib (Rozlytrek) for pediatric patients aged 1 month and older with solid tumors that have a neurotrophic tyrosine receptor kinase (NTRK) gene fusion...

Solid Tumors
Genomics/Genetics

Almost Half of Oncology Drugs Approved Since 1998 Have Been Precision Therapies, New Study Finds

Among the 198 new oncology drugs approved by the U.S. Food and Drug Administration (FDA) between 1998 and 2022, approximately 43% of them were precision therapies, according to a recent study published by Suehnholz et al in Cancer Discovery. Background Precision oncology therapies often require...

Issues in Oncology
Genomics/Genetics

The Future of AI in Cancer Care

New research has illustrated the strides being made to apply modern artificial intelligence (AI) computing methods to oncology, according to new findings to be presented at the European Society for Medical Oncology (ESMO) Congress 2023. Background Researchers have long investigated the potential of ...

Breast Cancer
Genomics/Genetics

Prophylactic Salpingo-Oophorectomy and Survival After Resection of Germline BRCA1/2-Mutant Breast Cancer

In an Italian single-institution retrospective study reported in JAMA Surgery, Martelli et al found that prophylactic salpingo-oophorectomy was associated with improved overall survival in patients who had undergone resection of germline BRCA1/2-mutant breast cancer. Study Details The study...

Prostate Cancer
Genomics/Genetics

Germline Variants and Risk of Aggressive Prostate Cancer

In a study reported in JAMA Oncology, Darst et al identified germline genetic variants that were associated with increased risk of aggressive vs nonaggressive prostate cancer. As stated by the investigators, “Germline gene panel testing is recommended for men with advanced prostate cancer or a...

Lung Cancer
Immunotherapy
Genomics/Genetics

Expert Point of View: Justin F. Gainor, MD

Justin F. Gainor, MD, Director of the Center for Thoracic Cancers Program at Massachusetts General Hospital, Boston, was invited to discuss IMpower151 and ILLUMINATE at the 2023 World Conference on Lung Cancer. IMpower151 vs IMpower150 Dr. Gainor examined why IMpower151 was negative for both...

Immunotherapy
Lung Cancer
Genomics/Genetics

Checkpoint Inhibitors Offer Limited Benefit in EGFR-Mutated Lung Cancer After Disease Progression

In advanced non–small cell lung cancer harboring mutations of the epidermal growth factor receptor (EGFR), the role of immune checkpoint inhibitors following disease progression with tyrosine kinase inhibitors has been unclear. Several studies reported at the International Association for the Study ...

Lung Cancer
Genomics/Genetics

Expert Point of View: Roy S. Herbst, MD, PhD

Roy S. Herbst, MD, PhD, cautioned that although FLAURA2 is a positive result, most patients will still develop drug resistance. “The result is really good and clearly positive, but if you look at the survival curves, there is still early overlap in a way that makes it unlikely this combination will ...

Lung Cancer
Genomics/Genetics

FLAURA2 Trial: Osimertinib Plus Chemotherapy Improves Outcomes in Advanced EGFR-Positive NSCLC

First-line treatment with osimertinib plus platinum-based chemotherapy achieved a statistically significant and clinically meaningful progression-free survival improvement compared with osimertinib alone in patients with advanced epidermal growth factor receptor (EGFR)-mutated non–small cell lung...

lung cancer
genomics/genetics

Xiuning Le, MD, PhD, on Update on the Use of Tepotinib to Treat an NSCLC Subset

Xiuning Le, MD, PhD, of The University of Texas MD Anderson Cancer Center, discusses results of the VISION trial, the largest on-treatment liquid biopsy biomarker data set of a MET inhibitor in patients with MET exon 14 non–small cell lung cancer (NSCLC). Tepotinib showed durable efficacy in this population.

lung cancer
genomics/genetics

Seshiru Nakazawa, MD, PhD, on NSCLC and Point Mutations as de Novo Oncogenic Drivers

Seshiru Nakazawa, MD, PhD, of Dana-Farber Cancer Institute, discusses activating the MET tyrosine kinase domain mutation, which has been identified as the sole oncogenic mutation in a small but significant subset of patients with non–small cell lung cancer (NSCLC). According to Dr. Nakazawa’s findings, this mutation is potentially targetable with currently available MET tyrosine kinase inhibitors.

Genomics/Genetics

FDA Grants First Marketing Authorization for a DNA Test to Assess Predisposition for Dozens of Cancer Types

On September 29, the U.S. Food and Drug Administration (FDA) granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that may help detect hundreds of genetic variants associated with an elevated risk of developing certain cancers. The...

genomics/genetics

Desheng Liang, MD, PhD, on Genetic Engineering of Mesenchymal Stem Cells for Cancer Therapy

Desheng Liang, MD, PhD, of China’s Central South University, discusses the ability of mesenchymal stem cells to target tumor and the progress he and his team have made in genetically engineering these cells for cancer treatment. Mesenchymal cells, which hold promise for therapeutic advances, are safe and relatively simple to produce, according to Dr. Liang.

CNS Cancers
Genomics/Genetics

First-Line Dabrafenib/Trametinib in Pediatric BRAF V600–Mutated Low-Grade Glioma

In a phase II trial reported in The New England Journal of Medicine, Eric Bouffet, MD, and colleagues found that the combination of dabrafenib and trametinib produced a higher objective response rate vs standard chemotherapy in the first-line treatment of pediatric patients with low-grade glioma...

Prostate Cancer
Genomics/Genetics

Mutations in 11 Genes May Be Associated With Aggressive Prostate Cancer

Researchers have singled out mutations in 11 genes associated with aggressive types of prostate cancer, according to a novel study published by Darst et al in JAMA Oncology. The new findings may lead to improvements in diagnosis and treatment. Background Currently, oncologists use genetic tests to...

Lung Cancer
Genomics/Genetics
Immunotherapy

Do Checkpoint Inhibitors Show Benefit in EGFR-Mutated NSCLC After Progression?

In patients with advanced non–small cell lung cancer (NSCLC) harboring EGFR mutations, the role of immune checkpoint inhibitors following disease progression with tyrosine kinase inhibitors has been unclear. Several studies reported at the International Association for the Study of Lung Cancer 2023 ...

Head and Neck Cancer
Genomics/Genetics

Personalized Biomarker-Based Umbrella Trial in Recurrent or Metastatic HNSCC

In a Korean phase II trial (KCSG HN 15-16 TRIUMPH) reported in the Journal of Clinical Oncology, Keam et al described results of a personalized biomarker-driven umbrella trial for the treatment of patients with platinum-refractory recurrent and/or metastatic head and neck squamous cell carcinoma...

Issues in Oncology
Genomics/Genetics

Patients With Cancer and DPYD Variant Alleles: Outcomes With Reduced-Dose Fluoropyrimidine Therapy

In an analysis reported in the Journal of Clinical Oncology, Knikman et al found that reduced doses of fluoropyrimidine therapy in patients with cancer with DPYD variant alleles did not result in poorer outcomes vs DPYD wild-type controls receiving full fluoropyrimidine doses. Study Details The...

genomics/genetics

Aaron C. Tan, PhD, MBBS, on Circulating Tumor DNA: Early Biomarker of Therapeutic Response in Phase I Trials

Aaron C. Tan, PhD, MBBS, of the National Cancer Centre Singapore, discusses new findings on early evaluation of circulating tumor DNA via low-pass whole-genome sequencing. The results of his study suggest this method may represent an early pharmacodynamic biomarker of therapeutic response (particularly for targeted treatments) that may influence decisions on dose determination (Abstract 23).

Pancreatic Cancer
Genomics/Genetics

Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma

In a study reported in the Journal of Clinical Oncology, Mandelker et al found that pancreatic acinar cell carcinoma was associated with a high prevalence of BRCA2 germline pathogenic variants and genomic features of homologous recombination deficiency (HRD). The study involved somatic and germline ...

Myelodysplastic Syndromes
Genomics/Genetics

Allogeneic HCT Outcomes in Patients With MDS and High-Risk Genetics

In a genetic analysis from the Blood and Marrow Transplant Clinical Trials Network 1102 Study reported in the Journal of Clinical Oncology, Versluis et al found that allogeneic hematopoietic cell transplantation (HCT) improved overall survival compared with non-HCT treatment in patients with...

Genomics/Genetics

23andMe Granted FDA 510(k) Clearance to Report Additional BRCA Variants

23andMe has announced that the company has received a U.S. Food and Drug Administration (FDA) 510(k) clearance to expand its existing BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report. The clearance allows 23andMe to report an additional 41 variants in the BRCA1 and BRCA2 genes known to be ...

Solid Tumors
Genomics/Genetics

Divarasib in Patients With Advanced Solid Tumors and a KRAS G12C Mutation

In a phase I study reported in The New England Journal of Medicine, Sacher et al found that the covalent KRAS G12C inhibitor divarasib (also referred to as GDC-6036) produced durable responses in patients with advanced or metastatic solid tumors with a KRAS G12C mutation. In the study, 137 patients ...

Leukemia
Genomics/Genetics

Understanding How TET2 Gene Deficiency May Fuel Development of AML

Researchers may have identified how the TET2 gene may fuel rapid cancer growth in patients with acute myeloid leukemia (AML), according to a recent study published by Li et al in Cell Stem Cell. Background AML is distinguished by the rapid division and metastasis of immature leukemia stem cells....

Breast Cancer
Genomics/Genetics

Researchers May Have Identified Several New Breast Cancer Susceptibility Genes

Researchers have identified genes that may be associated with breast cancer and could eventually be included in tests to identify high-risk patients, according to a recent study published by Wilcox et al in Nature Genetics. Background Currently, genetic tests for breast cancer consider a few genes...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

Therapeutic Implications of DNA Repair Discoveries in Patients With Homologous Recombination Deficiencies

Long-molecule scars may help identify patients with BRCA1- and BRCA2-deficient cancer types, according to a recent study published by Setton et al in Nature. Background Once DNA is damaged by toxins, radiation, or normal cell division, human cells must continually fix DNA breaks to survive. When...

Bladder Cancer
Genomics/Genetics

Diagnosing Early-Stage Bladder Cancer in Patients With Hematuria: Novel mePENK Test

Researchers have found that the new PENK methylation (mePENK) test could potentially pave the way for a breakthrough in early bladder cancer detection in patients with hematuria, according to a novel study published by Oh et al in The Journal of Molecular Diagnostics. The findings could reduce the...

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