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Genomics/Genetics

Can Genetic Mutations Impact Radiation Sensitivity?

A new study identified both common and rare genetic mutations that may impact radiation resistance and sensitivity, an important step toward providing more individualized and effective radiotherapy for patients with cancer, according to findings published by Gopal et al in Clinical Cancer ...

Breast Cancer
Genomics/Genetics

Novel Selective Estrogen Receptor Degraders in Advanced Breast Cancer: Use of Elacestrant in the Phase III EMERALD Trial

Endocrine therapy is the foundation of first-line therapy in most patients with hormone receptor–positive, HER2-negative metastatic breast cancer. Many of these patients respond to endocrine therapy but eventually become resistant to it through both intrinsic and acquired resistance mechanisms....

Breast Cancer
Genomics/Genetics

Elacestrant Improves Progression-Free Survival vs Standard Endocrine Therapy in Previously Treated Estrogen Receptor–Positive, HER2-Negative Advanced Breast Cancer

As reported in the Journal of Clinical Oncology by François-Clément Bidard, MD, PhD, of the Institut Curie, Paris and Saint Cloud, and colleagues, the phase III EMERALD trial has shown prolonged progression-free survival with the oral selective estrogen receptor degrader elacestrant vs standard...

Genomics/Genetics

Study Identifies How Cancer-Causing Gene Might Regulate Genetic Variation in Prostate Cancer

Researchers at the Barts Cancer Institute at the Queen Mary University of London, the Italian Institute for Genomic Medicine, and the University of Milan may have identified a novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in...

Breast Cancer
Genomics/Genetics
Immunotherapy

Expert Point of View: Angela DeMichele, MD, MSCE

Angela DeMichele, MD, MSCE, the Alan and Jill Miller Professor in Breast Cancer Excellence at the Perelman School of Medicine of the University of Pennsylvania in Philadelphia, commented on NIMBUS1 for The ASCO Post. She said obtaining information on tumor mutational burden is simple, as it is part ...

Breast Cancer
Genomics/Genetics
Immunotherapy

Dual Checkpoint Inhibitor Therapy Elicits Responses in Highly Mutated Breast Cancer

Patients with advanced HER2-negative metastatic breast cancer and high tumor mutational burden achieved responses—often durable—from treatment with the immunotherapy doublet of nivolumab and ipilimumab, according to results of the phase II NIMBUS trial reported at the 2021 San Antonio Breast Cancer ...

Breast Cancer
Genomics/Genetics

Expert Point of View: Mark E. Robson, MD

“OlympiA is clearly a practice-changing trial, and olaparib should be offered to patients meeting the entry criteria for the study,” said Mark E. Robson, MD, Chief of the Breast Medicine Service at Memorial Sloan Kettering Cancer Center, New York. Dr. Robson was invited to discuss the findings of...

Breast Cancer
Genomics/Genetics

OlympiA Trial: Adjuvant Olaparib Significantly Improves Overall Survival in Germline BRCA-Mutated Breast Cancer

The OlympiA trial of adjuvant olaparib in patients with HER2-negative, high-risk ­early-stage breast cancer and BRCA1 and BRCA2 mutations has now demonstrated a significant overall survival benefit, reducing the risk of death over placebo by 32% and yielding an absolute improvement of 3.8% at 3...

Genomics/Genetics

Computer Platform May Help Match Patients With Cancer to Targeted Therapy Trials

As more patients with cancer have their tumors genomically profiled and more therapies targeting genomic alterations enter clinical trials, the task of connecting patients with trials for which they are eligible can be especially challenging. The novel computer platform MatchMiner, developed by the ...

Breast Cancer
Genomics/Genetics

Switch to Fulvestrant/Palbociclib With Rising ESR1 Mutation Level in Blood During Aromatase Inhibitor/Palbociclib Therapy in Patients With Advanced Breast Cancer

As reported in The Lancet Oncology by François-Clément Bidard, MD, and colleagues, the French phase III PADA-1 trial has shown that switching to fulvestrant/palbociclib vs continuing first-line aromatase inhibitor (AI)/palbociclib therapy was associated with improved progression-free survival among ...

Genomics/Genetics

Research Examines a New Tool for Discovering Cancer-Driving Structural Variations

An advanced software tool for analyzing DNA sequences from tumor samples has uncovered new, likely cancer-driving genes. In a study, Weill Cornell Medicine researchers designed the software, known as CSVDriver, to map and analyze the locations of large mutations, known as structural variants, in...

CNS Cancers
Genomics/Genetics

Researchers Identify Potential Biomarker to Distinguish Group 3 and Group 4 Medulloblastomas

It may soon be possible to identify group 4 medulloblastomas from more aggressive group 3 tumors. Research based on a little-explored part of RNA that creates proteins may lead to the development of better-targeted therapies, according to investigators at the Johns Hopkins Kimmel Cancer Center....

Genomics/Genetics

Tissue vs ctDNA NGS for Detecting Actionable Alterations in Patients With Advanced Cancer

A large prospective analysis, published by Bayle et al in Annals of Oncology, evaluated differences between tissue and circulating tumor DNA (ctDNA) next-generation sequencing (NGS) with a large cancer gene panel. The investigators compared the impacts of both methods in terms of molecular tumor...

Gastroesophageal Cancer
Genomics/Genetics

Genetic Variation May Explain Racial Disparity in Esophageal Cancer Cases

Esophageal adenocarcinoma is a type of cancer affecting the mucus-secreting glands of the lower esophagus and is the most common form of esophageal cancer. It is often preceded by Barrett’s metaplasia, a deleterious change in cells lining the esophagus. Though the cause of esophageal adenocarcinoma ...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

Constitutional BRCA1 Methylation and Risk of Triple-Negative Breast Cancer and Ovarian Cancer

In a case-control study within the U.S. Women’s Health Initiative (WHI) study population reported in JAMA Oncology, Lønning et al found that BRCA1 promoter methylation identified in white blood cells was associated with increased risks of incident triple-negative breast cancer and high-grade serous ...

Genomics/Genetics

Cancer Phenotypes Associated With Germline CHEK2 Variants

In a retrospective cohort study reported in JAMA Oncology, Brittany L. Bychkovsky, MD, MSc, and colleagues analyzed the spectrum of cancer phenotypes associated with germline CHEK2 variants. They found that CHEK2 pathogenic variants apart from p.I157T, p.S428F, and p.T476M were associated with...

Prostate Cancer
Genomics/Genetics

Genomic Testing May Aid in Identifying Patients of African Descent With High-Risk Prostate Cancer

Black patients of African descent tend to be diagnosed more frequently with prostate cancer and have higher mortality rates than patients of other races and ethnicities. Despite this substantial disparity, few prospective studies focused on maximizing the recruitment of African American patients...

Solid Tumors
Genomics/Genetics

Selpercatinib in RET Fusion–Positive Solid Tumors Other Than Lung or Thyroid Malignancies

As reported in The Lancet Oncology by Vivek Subbiah, MD, and colleagues, the phase I/II LIBRETTO-001 basket trial has shown that the RET kinase inhibitor selpercatinib demonstrated activity in patients with RET fusion–positive solid tumors in an analysis excluding lung and thyroid cancers. Findings ...

Genomics/Genetics

Selpercatinib Approved for Locally Advanced or Metastatic RET Fusion–Positive Solid Tumors

On September 21, the U.S. Food and Drug Administration (FDA) granted accelerated approval to selpercatinib (Retevmo) for adult patients with locally advanced or metastatic solid tumors with a rearranged during transfection (RET) gene fusion and disease progression on or following prior systemic...

Lung Cancer
Genomics/Genetics

FDA Approves Selpercatinib for Locally Advanced or Metastatic RET Fusion–Positive NSCLC

On September 21, the U.S. Food and Drug Administration (FDA) granted regular approval to selpercatinib (Retevmo) for adult patients with locally advanced or metastatic non–small cell lung cancer (NSCLC) with a RET gene fusion (as detected by an FDA-approved test). The FDA also approved the Oncomine ...

Colorectal Cancer
Genomics/Genetics

ctDNA Analysis of Acquired EGFR Resistance Alterations With First-Line Cetuximab Plus Chemotherapy in Patients With Metastatic Colorectal Cancer

In a circulating tumor DNA (ctDNA) substudy from the CALGB/SWOG-80405/Alliance trial reported in the Journal of Clinical Oncology, Kanwal Raghav, MD, MBBS, and colleagues found that first-line use of the anti-EGFR antibody cetuximab combined with chemotherapy was associated with only a small number ...

Prostate Cancer
Genomics/Genetics

Prostate Tumor Biology May Be Influenced by Genetic Ancestry

Certain genetic variants found in prostate tumors of men of African descent were associated with African ancestry, according to two studies presented at the 15th American Association for Cancer Research (AACR) Conference on the Science of Cancer Health Disparities in Racial and Ethnic Minorities...

Colorectal Cancer
Genomics/Genetics

Acquired EGFR Inhibitor Resistance Alterations Identified in ctDNA Analysis in Patients With Refractory Metastatic Colorectal Cancer

In a study reported in the Journal of Clinical Oncology by Topham et al, circulating tumor DNA (ctDNA) analysis indicated significantly increased frequencies of multiple potential EGFR inhibitor resistance alterations among patients with refractory metastatic colorectal cancer with vs without prior ...

Lung Cancer
Genomics/Genetics

Updated Results From the ADAURA Trial of Adjuvant Osimertinib in EGFR-Mutated NSCLC

Newly released results from the phase III ADAURA trial revealed that osimertinib yielded a 5.5-year median disease-free survival in the postsurgical treatment of patients with EGFR-mutated non­–small cell lung cancer (NSCLC), and nearly three in four patients treated with adjuvant osimertinib were...

breast cancer
genomics/genetics

Antonio Marra, MD, on Metastatic Breast Cancer: Patterns of Genomic Instability and Their Effect on Treatment

Antonio Marra, MD, of Memorial Sloan Kettering Cancer Center, discusses a mutational signature analysis that reveals patterns of genomic instability linked to resistance to endocrine therapy with or without CDK4/6 inhibition in patients with estrogen receptor–positive/HER2-negative metastatic breast cancer (Abstract 210O).

Lung Cancer
Genomics/Genetics

Researchers Examine How Air Pollution May Drive Lung Cancer in Never-Smokers

A new mechanism has been identified through which very small pollutant particles in the air may trigger lung cancer in people who have never smoked, paving the way to new prevention approaches and the development of novel therapies, according to late-breaking data reported by Charles Swanton, MBBS, ...

Lung Cancer
Genomics/Genetics
Immunotherapy

Addition of Sintilimab and Bevacizumab Biosimilar to Chemotherapy for Patients With Advanced EGFR-Mutated NSCLC and Disease Progression on EGFR Inhibitors

In an interim analysis of the Chinese phase III ORIENT-31 trial reported in The Lancet Oncology, Lu et al found that the addition of sintilimab and the bevacizumab biosimilar IBI305 to chemotherapy prolonged progression-free survival in patients with advanced EGFR-mutated nonsquamous non–small cell ...

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...

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