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Prostate Cancer
Genomics/Genetics

Two New Studies Find Aggressive Prostate Cancer May Be Linked to Ancestral Heritage

Two studies published simultaneously by Jaratlerdsiri et al in Nature and Gong et al in Genome Medicine have identified genetic signatures explaining ethnic differences in the severity of prostate cancer, particularly in sub-Saharan Africa. Through genetic sequencing of prostate cancer tumors from...

Hepatobiliary Cancer
Genomics/Genetics

Study Examines How Genetic Mutations May Contribute to the Development of Cholangiocarcinoma

A team of researchers from the University of Rochester discovered how certain genetic mutations fuel the growth of cholangiocarcinoma, a rare but aggressive type of malignancy that has been on the rise in the United States. Their work, published by Guo et al in Cell Reports this week, details the...

CNS Cancers
Genomics/Genetics

ASTRO Issues Clinical Guideline on Radiation Therapy for IDH-Mutant Glioma

A new clinical guideline from the American Society for Radiation Oncology (ASTRO) provides recommendations on the use of radiation therapy to treat patients with isocitrate dehydrogenase (IDH)-mutant grade 2 and grade 3 diffuse glioma. Evidence-based recommendations outline the multidisciplinary...

Thyroid Cancer
Genomics/Genetics

Expert Point of View: Alexander T. Pearson, MD, PhD

Alexander T. Pearson, MD, PhD, Assistant Professor of Medicine at the University of Chicago, commended the artificial intelligence (AI)-augmented, ultrasound-based platform for screening and staging of thyroid cancer.  “In this study, Dr. Chan and colleagues processed high-resolution ultrasound...

Thyroid Cancer
Genomics/Genetics

Study Finds AI Ultrasound Platform Can Predict Thyroid Malignancy, Pathologic Stage, and BRAF Mutation Status

An artificial intelligence (AI) ultrasound platform that incorporates multiple methods of machine learning can accurately predict thyroid malignancy as well as pathologic and genomic outcomes, according to data presented at the 2022 Multidisciplinary Head and Neck Cancers Symposium.1 Findings from...

Lung Cancer
Genomics/Genetics

Addition of Chemotherapy to Gefitinib in First-Line Treatment of Advanced NSCLC With EGFR Mutations

In an updated analysis of the Japanese phase III NEJ009 trial reported in the Journal of Clinical Oncology, Miyauchi et al found that gefitinib plus carboplatin/pemetrexed was associated with prolonged progression-free survival and progression-free survival 2—but loss of significance in overall...

Breast Cancer
Genomics/Genetics

Researchers Identify Markers of Chemotherapy Resistance and Outcome in Patients With Triple-Negative Breast Cancer

Researchers have identified biological markers in patients with triple-negative breast cancer that are associated with resistance to chemotherapy. The study was published by Anurag et al in the journal Cancer Discovery and was funded by the National Cancer Institute’s Clinical Proteomics Tumor...

Genomics/Genetics

PREMMplus Tool May Assist in Identifying People Likely to Benefit From Multigene Hereditary Cancer Risk Assessment

An online tool developed by researchers and physicians at Dana-Farber Cancer Institute may accurately and rapidly identify people who should undergo testing for inherited genetic changes that raise the risk of developing certain cancers, according to findings reported by Yurgelun et al in the...

Genomics/Genetics

Pralsetinib Achieves Tissue-Agnostic Benefits for Patients With RET Fusion–Positive Cancers

The highly selective RET inhibitor pralsetinib was well tolerated and demonstrated robust, durable responses in patients with RET fusion–positive cancers regardless of tumor type, according to results from the international phase I/II ARROW trial. Results from the trial were published in Nature...

Lymphoma
Genomics/Genetics

Study Reveals Potential Genomic Contributors to the Development of DLBCL

By searching previously ignored regions of the genome, researchers have found a multitude of new genetic mutations that may contribute to diffuse large B-cell lymphoma (DLBCL). These findings were published by Bal et al in Nature. “Our findings not only show that these mutations can contribute to...

Leukemia
Genomics/Genetics

Molecular Map Reveals Insights Into the Genetic Drivers of CLL

A newly constructed map of the landscape of genetic changes in chronic lymphocytic leukemia (CLL) may provide a better understanding of this complex malignancy, which could lead to more accurate prognoses for patients, improved diagnostics, and novel treatments. These research findings were...

Lung Cancer
Genomics/Genetics

FDA Approves Capmatinib for Metastatic NSCLC With MET Exon 14 Skipping Mutations

On August 10, 2022, the U.S. Food and Drug Administration (FDA) granted regular approval to capmatinib (Tabrecta) for adult patients with metastatic non–small cell lung cancer (NSCLC) whose tumors have a mutation leading to mesenchymal-epithelial transition (MET) exon 14 skipping, as detected by an ...

Lung Cancer
Genomics/Genetics
Immunotherapy

Study Finds Adding Tremelimumab and Durvalumab to Chemotherapy Improves Overall Survival in Metastatic NSCLC Regardless of KRAS/STK11/KEAP1 Mutations

Patients with metastatic non–small cell lung cancer (NSCLC) who received a combined therapy of tremelimumab, durvalumab, and chemotherapy experienced longer overall survival compared with those who received chemotherapy alone, regardless of STK11, KEAP1, or KRAS mutational status. These findings...

Multiple Myeloma
Genomics/Genetics

Researchers Find Potential Link Between Genetic Mutations and Treatment Resistance in Patients With Relapsed or Refractory Multiple Myeloma

Researchers studying the molecular landscape of over 500 patients with relapsed or refractory multiple myeloma discovered a prevalence of activated key oncogenic pathways in these patients—much more than previously thought. Upward of 45% to 65% of NF-κB and RAS/MAPK pathways each had alterations....

Hepatobiliary Cancer
Genomics/Genetics

Study Sheds Light on Mechanisms Driving Cancer Induced by Organic Solvent Used in Printing Industry

1,2-Dichloropropane (1,2-DCP) is a synthetic organic solvent used in the printing industry. It was linked to cholangiocarcinoma in 2013, when printing company employees in Osaka, Japan, exposed to 1,2-DCP were diagnosed with the cancer. Thereafter, the International Agency for Research on Cancer...

CNS Cancers
Genomics/Genetics

Investigational Blood Test May Help Improve Diagnosis and Monitoring of Glioma

Researchers at Massachusetts General Hospital (MGH) who previously developed a blood test for mutations in a gene linked to gliomas have now applied their technology to detect additional mutations—in this case, in the gene that codes for the epidermal growth factor receptor (EGFR). The advance,...

Genomics/Genetics
Breast Cancer
Gynecologic Cancers

Does Disclosing Maternal Status Affect Children’s Health Behaviors?

Telling children about their mother’s risk of hereditary breast and/or ovarian cancer does not adversely influence the offspring’s lifestyle or quality of life in the long term, according to a new study published by McDonnell et al in the journal Pediatrics. The study looked at the mutation status...

CNS Cancers
Genomics/Genetics

Deciphering the Elusive Origin and Pathways of Brain Metastases

The effective treatment of patients with brain metastases is an unmet need because, until fairly recently, patients with brain metastases were excluded from clinical trials of systemic therapies. However, the emergence of molecular targeted therapies has allowed a new treatment approach in patients ...

CNS Cancers
Genomics/Genetics

Dual-Targeted Therapy Improves Outcomes vs Chemotherapy for Some Pediatric Patients With Low-Grade Glioma

The all-oral combination of dabrafenib plus trametinib—two targeted therapies—significantly improved the overall response rate vs standard-of-care chemotherapy with carboplatin plus vincristine in pediatric patients with BRAF V600 mutation–positive low-grade gliomas. The clinical benefit rate...

Pancreatic Cancer
Genomics/Genetics

Outcomes in Pancreatic Cancer Surveillance Program for Carriers of Germline CDKN2A Pathogenic Variants

In a Dutch study reported in the Journal of Clinical Oncology, Klatte et al provided findings from a 20-year follow-up of a pancreatic cancer surveillance program including carriers of germline CDKN2A pathogenic variants. Study Details The study included 347 carriers in the Netherlands who...

Solid Tumors
Genomics/Genetics

Dabrafenib/Trametinib Combination Receives FDA Approval for BRAF V600E–Mutated Solid Tumors

On June 23, the U.S. Food and Drug Administration (FDA) granted accelerated approval for dabrafenib (Tafinlar) plus trametinib (Mekinist) for the treatment of adult and pediatric patients aged 6 years and older with unresectable or metastatic solid tumors with a BRAF V600E mutation whose disease...

COVID-19
Colorectal Cancer
Survivorship
Genomics/Genetics

American Cancer Society Investigators Present Studies on COVID-19 Pandemic, Racial/Ethnic Disparities, and Coverage for Genomic Testing

Investigators at the American Cancer Society presented results of several studies during poster sessions at the 2022 ASCO Annual Meeting. Summaries of a few of these studies are provided here. COVID-19 and Cancer Mortality According to a new study led by researchers at the American Cancer Society,...

Pancreatic Cancer
Genomics/Genetics
Immunotherapy

NOTABLE Trial: Survival in Pancreatic KRAS Wild-Type Cancer Improved With Addition of Nimotuzumab to Gemcitabine

In patients with locally advanced or metastatic pancreatic cancer and KRAS wild-type tumors, novel treatment with the monoclonal antibody nimotuzumab, which targets the epidermal growth factor receptor (EGFR),  plus gemcitabine significantly improved overall survival and other outcomes over...

Gynecologic Cancers
Genomics/Genetics

Factors That May Predict Response to the Addition of Bevacizumab to Front-Line Chemotherapy in Patients With Endometrial Cancer

In an analysis from an NRG Oncology/Gynecologic Oncology Group phase II study (GOG-86P) reported in the Journal of Clinical Oncology, Thiel et al looked at outcomes in patients with advanced endometrial cancer treated with bevacizumab added to front-line chemotherapy. The investigators found that...

Multiple Myeloma
Genomics/Genetics

Study Identifies Three-Gene Signature That May Predict Response to Selinexor in Patients With Multiple Myeloma

Researchers have, for the first time, identified genes that may predict response to a therapy for a blood cancer that can have serious side effects for some patients. The therapy, selinexor, is part of the treatment armamentarium for multiple myeloma, but the ability to target its use to patients...

Genomics/Genetics

Germline Variants in Types of Cancer Without Hereditary Testing Guidelines

In a study reported in JAMA Network Open, Timothy A. Yap, MBBS, PhD, FRCP, and colleagues found that a substantial proportion of patients with cancer types that lacked hereditary testing guidelines harbored germline pathogenic/likely pathogenic variants. Study Details The study included data from...

lung cancer
genomics/genetics

Gilberto de Lima Lopes, Jr, MD, MBA, and Matthew Krebs, PhD, on NSCLC: Updated Results With Amivantamab-vmjw

Gilberto de Lima Lopes, Jr, MD, MBA, of the Sylvester Comprehensive Cancer Center at the University of Miami, and Matthew Krebs, PhD, of The University of Manchester and The Christie NHS Foundation Trust, discuss results from the CHRYSALIS study. The trial showed that the bispecific antibody amivantamab-vmjw demonstrated antitumor activity, even after prior treatment, in patients with non–small cell lung cancer that exhibits the MET exon 14 skipping mutation (Abstract 9008).

colorectal cancer
genomics/genetics

Michael J. Overman, MD, and Smitha Krishnamurthi, MD, on RAS Wild-Type Metastatic Colorectal Cancer: Refining Treatment Strategy

Michael J. Overman, MD, of The University of Texas MD Anderson Cancer Center, and Smitha Krishnamurthi, MD, of the Cleveland Clinic, review three abstracts, all of which enrolled patients with newly diagnosed RAS and BRAF wild-type metastatic colorectal cancer with left-sided primary tumors. The discussion centers on what the study results indicate about the use of an EGFR therapy and weighing the risk to quality of life from rash, in particular (Abstracts LBA3503, LBA3504, LBA3505).

Genomics/Genetics
Myelodysplastic Syndromes
Leukemia

Demethylation and Upregulation of the Oncogene SALL4 After Hypomethylating Therapy

In a study reported in The New England Journal of Medicine, Liu et al found that hypomethylating therapy was associated with upregulation of the oncogene SALL4 in a high proportion of patients with myelodysplastic syndrome. They also identified the gene region that is demethylated and responsible...

Leukemia
Genomics/Genetics

Triplet Combination Therapy Yields High Response Rates in Patients With FLT3-Mutated AML

FLT3-ITD–mutated acute myeloid leukemia (AML) is an aggressive disease usually resistant to available treatment options, resulting in high front-line response rates but short response durations and low survival rates. Quizartinib—a potent selective FLT3 inhibitor—can work synergistically with...

Genomics/Genetics
Bladder Cancer

Real-World Uptake of FGFR-Alteration Testing and Gene-Targeted Therapy for Patients With Urothelial Cancer

In a study reported in a research letter in JAMA Oncology, Nimgaonkar et al found that less than half of patients with urothelial cancer who had received first-line platinum-based therapy underwent testing for FGFR alterations and that less than half of patients with susceptible alterations...

Leukemia
Myelodysplastic Syndromes
Genomics/Genetics

Targeted Therapy Emavusertib Shows Activity in Patients With MDS or AML With Specific Mutations

Mutations in SF3B1 and U2AF1 can drive overexpression of activated IRAK4—which regulates inflammation and promotes cancer cell growth and survival—and are associated with a poor prognosis for patients with high-risk myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Emavusertib is a...

Prostate Cancer
Genomics/Genetics

Differences in Germline Variant Spectrum Between Black and White Men With Prostate Cancer

In a study presented at the 2022 ASCO Annual Meeting (Abstract 10502) and simultaneously published in JCO Precision Oncology, Veda N. Giri, MD, and colleagues found that Black men with prostate cancer exhibited a lower frequency and narrower spectrum of germline pathogenic or likely pathogenic...

Genomics/Genetics

FDA Approves FoundationOne CDx as a Companion Diagnostic for Entrectinib

On June 9, Foundation Medicine, Inc., announced that it has received approval from the U.S. Food and Drug Administration (FDA) for FoundationOne CDx to be used as a companion diagnostic for the two indications of the tyrosine kinase inhibitor entrectinib (Rozlytrek). As a companion diagnostic,...

prostate cancer
genomics/genetics

Neal D. Shore, MD, on Germline Genetic Testing and Its Impact on Prostate Cancer Clinical Decision-Making

Neal D. Shore, MD, of the Carolina Urologic Research Center, discusses his study findings, showing that germline genetic testing influenced care for patients with prostate cancer. Men whose genetic test was positive for a pathogenic germline variant received more recommendations for changes to follow-up and treatment, and for testing and counseling of relatives, than did patients with negative or uncertain test results (Abstract 10500).  

Genomics/Genetics

Patient-Facing Screening Tool Could Increase Detection of Individuals With Lynch Syndrome

Nearly 1 million people in the United States are affected by Lynch syndrome, a hereditary cancer condition with markedly elevated risk of gastrointestinal, endometrial, and other cancers. Most of them, however, are unaware of it, or find out only after they have developed cancer. A screening...

Breast Cancer
Genomics/Genetics

Study Finds Genetic Mutations Differ Across Younger and Older Patients With Breast Cancer

Women younger than age 40 with advanced breast cancer often experience more aggressive disease and worse prognoses than their older counterparts. Knowing which types of genetic mutations these patients tend to have may inform treatment strategies and improve outcomes. In a recent study, researchers ...

Breast Cancer
Genomics/Genetics

Study Examines Ancestry-Specific Genetic Risk for Triple-Negative Breast Cancer

Although women of African descent experience a higher incidence and mortality from triple-negative breast cancer than women of other races or ethnicities, research findings presented by Hall et al at the 2022 ASCO Annual Meeting showed that the magnitude of gene-specific risks of triple-negative...

Cost of Care
Genomics/Genetics

New Study Assesses Oncologists’ Ratings of the Importance of Health Insurance and Costs for Genomic Testing

A new study led by researchers at the American Cancer Society showed physician, practice, and patient characteristics were associated with oncologists’ ratings of the importance of patient health insurance and out-of-pocket costs for genomic testing in treatment decisions. The findings are being...

Genomics/Genetics

Study Points to Expanded Genomic Testing to Benefit Children and Young Adults With Cancer

New findings from researchers at Memorial Sloan Kettering Cancer Center published by Shukla et al in Nature Communications reported the results of using a comprehensive sequencing approach on 114 pediatric, adolescent, and young adult patients with solid tumors. The researchers found that their...

lung cancer
genomics/genetics

Matthew L. Meyerson, MD, PhD, on Lung Adenocarcinoma: Somatic Mutations, Germline Risk, and Ancestry

Matthew L. Meyerson, MD, PhD, of the Dana-Farber Cancer Institute, discusses study findings that suggest the variation in frequency of EGFR and KRAS mutations in lung cancer may be associated with genetic ancestry in patients from Latin America. The results indicate it may be possible to identify germline alleles underpinning this link. Finding a germline locus or loci may impact the development of lung cancers with these mutations and may improve lung cancer prevention and screening for populations of Latin American origin, as well as others.

Bladder Cancer
Genomics/Genetics

Report Finds Uptake of Erdafitinib for Urothelial Cancer May Be Limited, Despite Positive Real-World Survival Data

The first bladder cancer drug targeting a cancer-driving gene mutation has been used relatively little despite its clear efficacy in a clinical trial, suggests a report published as a research letter by Nimgaonkar et al in JAMA Oncology. Researchers analyzed a large, nationwide database of cancer...

Solid Tumors
Genomics/Genetics

Next-Generation PARP1-Selective Inhibitor Offers Significant Benefits Over Older Predecessors in Treatment of Solid Tumors

The first-in-human, first-in-class trial of the next-generation PARP (poly [ADP-ribose] polymerase) 1–selective inhibitor AZD5305 suggests this drug may be a welcome advance over its U.S. Food and Drug Administration (FDA)-approved predecessors in the treatment of solid tumors with alterations in...

issues in oncology
genomics/genetics

Nickolas Papadopoulos, PhD, on Multicancer Early Detection: Opportunities and Challenges

Nickolas Papadopoulos, PhD, of the Sidney Kimmel Comprehensive Cancer Center, discusses early detection as the key to reducing cancer mortality and the lack of tests for many malignancies. Liquid biopsies have the potential to screen for various tumor types, albeit with varying levels of sensitivity. Dr. Papadopoulos discusses his research on such blood tests, following patients prospectively to find the best combination of genetic and epigenetic biomarkers to increase sensitivity (Abstract PL02).

Hepatobiliary Cancer
Pancreatic Cancer
Immunotherapy
Genomics/Genetics

Ipilimumab/Nivolumab in Patients With Metastatic Pancreatic or Biliary Cancer and HRD Pathogenic Germline Variants

In a single-institution case series reported in a research letter in JAMA Oncology, Terrero et al found that the combination of ipilimumab and nivolumab was active in patients with chemotherapy-refractory metastatic pancreatic or biliary cancer with homologous recombination deficiency (HRD)...

pancreatic cancer
genomics/genetics

Christine A. Iacobuzio-Donahue, MD, PhD, on Pancreatic Cancer: Novel Insights Into Genetics and Evolution

Christine A. Iacobuzio-Donahue, MD, PhD, of Memorial Sloan Kettering Cancer Center, discusses her research on the evolutionary features of advanced stage pancreatic cancers and the insights that may be used to help improve patient outcomes (Abstract PL05).

Lung Cancer
Genomics/Genetics
Immunotherapy

DESTINY-Lung01: Is Trastuzumab Deruxtecan the Answer for HER2-Mutant Lung Cancer?

The human epidermal growth factor (HER) family of receptors are a well-established therapeutic target. Indeed, seminal studies conducted nearly 2 decades ago identified a key association between activating mutations in the kinase domain of the epidermal growth factor receptor (EGFR, also known as...

Lung Cancer
Genomics/Genetics
Immunotherapy

DESTINY-Lung01: T-DXd Shows Durable Activity in Previously Treated Metastatic HER2-Mutant NSCLC

In a phase II trial (DESTINY-Lung01) reported in The New England Journal of Medicine, Bob T. Li, MD, PhD, MPH, of the Thoracic Oncology and Early Drug Development Service, Memorial Sloan Kettering Cancer Center, New York, and colleagues found that fam-trastuzumab deruxtecan-nxki (T-DXd) showed...

Genomics/Genetics

Association of Pathogenic Variants in Hereditary Cancer Genes With Additional Cancers and Non-neoplastic Diseases

In a study reported in JAMA Oncology, Zeng et al found that germline pathogenic variants in 23 hereditary cancer genes were associated with an increased risk of cancers not previously associated with the variants, as well as an increased risk of multiple non-neoplastic diseases. Study Details The...

issues in oncology
genomics/genetics

Charles L. Sawyers, MD, on Transforming Patient Outcomes: The Future of Cancer Research

Charles L. Sawyers, MD, of Memorial Sloan Kettering Cancer Center, discusses the battle against treatment resistance and how to overcome it, as well as the power of observational clinical data in precision oncology, derived largely from his experience with Project GENIE, and the role of genetic ancestry (Abstract PL02).

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