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Leukemia
Genomics/Genetics

Certain Genetic Mutations May Increase Risk of Death From Infection in Patients With CLL

Death from infection—the leading cause of death for patients with chronic lymphocytic leukemia (CLL)—may be linked to specific gene mutations, according to results from a study published by Else et al in the journal Leukemia. Testing for these mutations could be used to identify patients at a...

Gynecologic Cancers
Genomics/Genetics

Genome-Wide Association Study of Variants Linked to Cervical Preinvasive and Invasive Disease

In a genome-wide association study reported in The Lancet Oncology, Bowden et al identified six independent variants among the PAX8, CLPTM1L, and HLA genes that were associated with risk for invasive cervical cancer or cervical intraepithelial neoplasia grade 3 (CIN3). As stated by the...

Colorectal Cancer
Genomics/Genetics

Patients of Different Races With Early-Onset Colorectal Cancer Exhibit Distinct Genetic Features

Racial differences in genetic mutations were observed among patients with early-onset colorectal cancer, according to data presented by Andreana N. Holowatyj, PhD, MS, during the virtual American Association for Cancer Research (AACR) Annual Meeting 2021 (Abstract 101). The incidence of early-onset ...

solid tumors
gastrointestinal cancer
genomics/genetics

Vivek Subbiah, MD, on RET Fusion–Positive Cancers: Efficacy of Selpercatinib

Vivek Subbiah, MD, of The University of Texas MD Anderson Cancer Center, discusses data on selpercatinib that showed promising activity across a variety of RET fusion–positive cancers, including treatment-refractory gastrointestinal malignancies. This analysis highlights the need for genomic profiling to identify actionable oncogenic drivers.

Lung Cancer
Genomics/Genetics

Expert Point of View: Gillianne G.Y. Lai, MBBS

Gillianne G.Y. Lai, MBBS, of the National Cancer Centre, Singapore, discussed the presentations on novel agents for exon 20 insertion mutations in non–small cell lung cancer (NSCLC), which account for about one-third of tyrosine kinase resistance mutations. Although tyrosine kinase mutations are...

Lung Cancer
Genomics/Genetics

Lung Cancers With Rare EGFR Mutations Being Tackled by Novel Agents

Next-generation inhibitors of epidermal growth factor receptor (EGFR) exon 20 insertion mutations showed promise in patients with advanced non–small cell lung cancer (NSCLC) in early-phase trials presented during the International Association Society for Lung Cancer 2020 World Conference on Lung...

Genomics/Genetics
Issues in Oncology

How Exceptional Responders Are Providing Clues to Personalizing Cancer Treatment

The findings from a recent study of patients with cancer who had an exceptional response to chemotherapy are yielding new clues on the molecular changes in patients’ tumors. These findings may explain the genetic alterations contributing to these patients’ dramatic and long-lasting responses to...

colorectal cancer
genomics/genetics

Heinz-Josef Lenz, MD, and Axel Grothey, MD, on Colorectal Cancer: Molecular Testing and Interpreting an NGS Report

Immunotherapy
Genomics/Genetics
Solid Tumors

Is Tumor Mutational Burden Alone Sufficient to Predict Response to Immunotherapy?

In a letter to the editor published in The New England Journal of Medicine, Benoit Rousseau, MD, and colleagues presented evidence that high tumor mutational burden (TMB) alone is not sufficient to predict improved outcomes with immune checkpoint inhibitor therapy in patients with solid tumors. As...

Gastroesophageal Cancer
Genomics/Genetics

Gene Sequencing, Esophageal Brushings May Identify Patients With Barrett’s Esophagus at Risk for Cancer Progression

A combination of esophageal brushing and extensive genetic sequencing of the sample collected may detect chromosome alterations in people with Barrett’s esophagus, identifying patients at risk for progressing to esophageal cancer. These findings were published by Douville et al in ...

Breast Cancer
Genomics/Genetics

Germline BRCA1/2 and Other Predisposition Genes in Patients With Metastatic Breast Cancer: Prevalence and Association With Prognosis

In a German prospective registry study reported in the Journal of Clinical Oncology, Peter A. Fasching, MD, and colleagues identified the prevalence of germline mutations in BRCA1/2 and other breast cancer risk genes in patients with metastatic disease and found similar prognosis with presence vs...

Lung Cancer
Genomics/Genetics

Patients With NSCLC and Driver Mutations May Be More Likely to Present With Brain Metastasis at Diagnosis

The incidence of brain metastasis at diagnosis in patients with non–small cell lung cancer (NSCLC) harboring driver mutations was high, according to findings presented by Rashkit et al at the European Lung Cancer Virtual Congress 2021 (Abstract 38P). However, these patients achieved treatment...

Head and Neck Cancer
Genomics/Genetics

Tipifarnib for Patients With Advanced HRAS-Mutant Head and Neck Cancer and High Variant Allele Frequency

In a phase II trial reported in the Journal of Clinical Oncology, Ho et al found that tipifarnib produced a high response rate among patients with recurrent or metastatic head and neck squamous cell carcinoma with HRAS mutations and high variant allele frequency. As stated by the investigators,...

Multiple Myeloma
Genomics/Genetics

Role of Whole-Genome Sequencing in Identifying Patients With MGUS at Risk of Progression to Multiple Myeloma

A study published by Oben et al in Nature Communications has shown that whole-genome sequencing can help determine which patients with a multiple myeloma precursor condition known as monoclonal gammopathy of undetermined significance (MGUS) or smoldering myeloma may be at risk for progression to...

Prostate Cancer
Genomics/Genetics

Mutations in CTCs May Predict Clinical Outcomes in Patients With Metastatic Castration-Resistant Prostate Cancer

Various genetic alterations in circulating tumor cells (CTCs) were associated with clinical outcomes and resistance to hormone therapy in patients with metastatic castration-resistant prostate cancer, according to research published by Gupta et al in Molecular Cancer Research. Although only a...

Lung Cancer
Genomics/Genetics

Analysis Identifies Frequency of PI3K Pathway Alterations in Patients With NSCLC

A retrospective analysis of patients with non–small cell lung cancer (NSCLC) identified potentially targetable alterations in the PI3K pathway that were not mutually exclusive to mutations in other pathways, according to findings presented by Lage et al during the European Lung Cancer Virtual...

Hepatobiliary Cancer
Genomics/Genetics

In Cholangiocarcinoma, Does Chemotherapy Response Vary According to FGFR2 Status?

With inhibitors of fibroblast growth factor receptor 2 (FGFR2) fusion and other genetic alterations now in clinical trials for cholangiocarcinoma, there is interest in better understanding what FGFR2 genetic alterations mean for patients. In particular, little is known about the effects of FGFR2...

Lung Cancer
Genomics/Genetics

Adagrasib for Patients With Advanced KRAS G12C–Mutated NSCLC

Treatment with the KRAS G12C inhibitor adagrasib showed clinical activity in patients with advanced non–small cell lung cancer (NSCLC) harboring a KRAS G12C mutation, confirming its role as a therapeutic target. Results from the KRYSTAL-1 trial were reported at the European Lung Cancer Virtual...

Breast Cancer
Genomics/Genetics

Breast Cancer Susceptibility Genes: Putting the Pieces Together

With the widespread use of multigene panels for germline genetic testing, understanding the cancer risks associated with pathogenic or likely pathogenic variants (ie, mutations) has become increasingly necessary. To identify which genes are breast cancer susceptibility genes, population studies...

Breast Cancer
Genomics/Genetics

U.S. Population–Based Study of Prevalence of and Risk Associated With Breast Cancer–Predisposition Genes

In a U.S. population–based, case-control study reported in The New England Journal of Medicine, Chunling Hu, MD, PhD, of the Mayo Clinic, Rochester, Minnesota, and colleagues identified the prevalence of and breast cancer risk associated with germline pathogenic variants in established and...

Pancreatic Cancer
Genomics/Genetics

Olaparib for Previously Treated Patients With Pancreatic Cancer and DDR Genetic Alterations Other Than BRCA Variants

Combined results of two parallel phase II studies reported in JAMA Oncology by Milind Javle, MD, and colleagues indicated that olaparib may have therapeutic value in previously treated patients with platinum-sensitive pancreatic ductal carcinoma with DNA damage repair (DDR) genetic alterations...

gynecologic cancers
genomics/genetics

Sandro Pignata, MD, PhD, on BRCA-Mutated Ovarian Cancer: Maintenance Olaparib Outcomes

Sandro Pignata, MD, PhD, of the Istituto Nazionale dei Tumori, discusses results from the ORZORA trial, which showed the efficacy of olaparib in patients with platinum-sensitive relapsed ovarian cancer is similar, whether they have a germline or somatic BRCA mutation. This information could prove useful for clinical practice (ID #10226).

Colorectal Cancer
Genomics/Genetics

KRAS Mutation Status May Predict Outcomes After Hepatic Arterial Infusion Pump Therapy for Unresectable Colorectal Liver Metastases

KRAS mutational status in patients with unresectable liver metastases from colorectal cancer predicts a worse response to hepatic arterial infusion (HAI) pump chemotherapy, according to research presented by Kolbeinsson et al at the Society of Surgical Oncology 2021 International Conference on...

gynecologic cancers
genomics/genetics
immunotherapy

Charles N. Landen, MD, on Newly Diagnosed Ovarian Cancer: BRCA Mutations, PD-L1 Expression, and Combination Chemoimmunotherapy

Charles N. Landen, MD, of the University of Virginia, discusses results from the first clinical trial in ovarian cancer to demonstrate that neither a BRCA1/2 mutation nor a homologous recombination deficiency improves sensitivity to a therapeutic PD-L1 blockade in patients receiving atezolizumab vs placebo combined with carboplatin, paclitaxel, and bevacizumab for newly diagnosed disease (ID #10240).

gynecologic cancers
genomics/genetics

William H. Bradley, MD, on Ovarian Cancer: 5-Year Follow-up on Maintenance Olaparib

William H. Bradley, MD, of the Medical College of Wisconsin, discusses results from the SOLO-1 trial on maintenance olaparib after first-line platinum-based chemotherapy for patients with newly diagnosed advanced ovarian cancer and a BRCA mutation. Almost half of the patients treated with olaparib in the study were disease-free at 5 years, vs 20% of those treated with placebo (ID# 10224).

Gynecologic Cancers
Genomics/Genetics

PARP Inhibition Shows Efficacy in Ovarian Cancer Regardless of Number of Prior Lines of Chemotherapy, BRCA Mutation Status

Treatment with olaparib is safe and effective for patients with platinum-sensitive relapsed ovarian cancer, regardless of the number of prior lines of chemotherapy received and BRCA mutation status, according to data presented from the phase II LIGHT study by Karen A. Cadoo, MD, at the Society of...

Leukemia
Myelodysplastic Syndromes
Genomics/Genetics

Whole-Genome Sequencing vs Cytogenetic Analysis in Myeloid Cancers

In a study reported in The New England Journal of Medicine, Duncavage et al found that whole-genome sequencing in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) provided rapid genomic profiling that improved diagnostic yield vs conventional cytogenetic analysis, as...

Immunotherapy
Genomics/Genetics

High Tumor Mutational Burden Predicts Immunotherapy Response in Some—but Not All—Cancers

High tumor mutational burden (TMB) was useful for predicting clinical responses to immune checkpoint inhibitors only in a subset of cancer types, according to a study published by McGrail et al in Annals of Oncology. The findings suggest that TMB status may not be reliably used as a universal...

Pancreatic Cancer
Genomics/Genetics
Immunotherapy

Lowering KRAS Activity May Lead to Improved Therapy Response in Pancreatic Cancer

If clinicians could stop mutations of the KRAS gene—which are present in more than 90% of pancreatic cancer cases and drastically reduce the response to immunotherapy—the chances of improving treatment for the disease would be increased. A collaborative study published by Ischenko et al in Nature...

Hepatobiliary Cancer
Genomics/Genetics

In Cholangiocarcinoma, Does Chemotherapy Response Vary According to FGFR2 Status?

With inhibitors of fibroblast growth factor receptor 2 (FGFR2) fusion and other genetic alterations now in clinical trials for cholangiocarcinoma, there is interest in better understanding what FGFR2 genetic alterations mean for patients. In particular, little is known about the effects of FGFR2...

Hepatobiliary Cancer
Genomics/Genetics

Oncologist Survey Identifies Knowledge Gaps in Cholangiocarcinoma Mutations

In the treatment of cholangiocarcinoma, many clinicians may be unaware of the importance of the major oncogenic mutations and other alterations that can be identified and targeted, according to a survey of oncologists presented at the 2021 Gastrointestinal Cancers Symposium.1 “Recent developments...

Leukemia
Myelodysplastic Syndromes
Genomics/Genetics

Eprenetapopt Plus Azacitidine in TP53-Mutated MDS and AML

In a Groupe Francophone des Myélodysplasies phase II study reported in the Journal of Clinical Oncology, Cluzeau et al found that the combination of eprenetapopt and azacitidine produced high response rates in previously untreated patients with high-risk TP53-mutated myelodysplastic syndromes (MDS) ...

Breast Cancer
Genomics/Genetics

Salpingo-Oophorectomy to Reduce Ovarian Cancer Risk in Women With BRCA1 or BRCA2 Pathogenic Variants May Also Reduce Breast Cancer Risk

In a study reported in JAMA Oncology, Choi et al found that risk-reducing salpingo-oophorectomy in women with BRCA1 or BRCA2 pathogenic variants was associated with a reduced risk of breast cancer within 5 years after surgery, with evidence of longer-term risk reduction among those with BRCA1...

Solid Tumors
Immunotherapy
Genomics/Genetics

Responses to Anti–PD-1/PD-L1 Immunotherapy in Patients With MSS Solid Tumors and High Tumor Mutational Burden

In a single-institution study reported in JAMA Oncology, Valero et al found that response rates to anti–PD-1 or anti–PD-L1 treatments in patients with microsatellite-stable (MSS) solid tumors were generally higher among those with high tumor mutational burden (TMB) defined as ≥ 10...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

Trends in Germline Genetic Testing in Women Diagnosed With Breast or Ovarian Cancer

In a study of germline genetic testing in women diagnosed with breast or ovarian cancer reported in the Journal of Clinical Oncology, Allison W. Kurian, MD, MSc, and colleagues found that undertesting persists in patients with ovarian cancer, and that most pathogenic variants are found in 20 breast ...

Leukemia
Genomics/Genetics

Genetic Mutations Linked to Worse B-Cell ALL Outcomes in Pediatric Hispanic and Latino Patients

A combination of genetic mutations may explain the higher incidence of and poorer outcomes from pediatric leukemia in Hispanic and Latino patients, according to a new study published by Raca et al in the journal Leukemia. Researchers said a novel therapeutic drug combination—as well as testing for...

Lung Cancer
Genomics/Genetics

Germline Whole-Exome Sequencing Reveals the Potential Role of Hereditary Predisposition and Therapeutic Implications in SCLC

A study presented by Nobuyuki Takahashi, MD, of the Center for Cancer Research at the National Cancer Institute, at the International Association for the Study of Lung Cancer (IASLC) 2020 World Conference on Lung Cancer (WCLC) Singapore (Abstract OA11.05) demonstrated that there may be an inherited ...

Breast Cancer
Genomics/Genetics

Protein-Truncating and Rare Missense Variants in Breast Cancer Risk Genes: Association With Disease Risk

In a study reported in The New England Journal of Medicine, members of the international Breast Cancer Association Consortium (BCAC) identified the risk of disease associated with germline protein-truncating and rare missense variants of putative susceptibility genes in a large population of breast ...

Gastrointestinal Cancer
Genomics/Genetics
Issues in Oncology
COVID-19

ASCO Names Advance of the Year: Molecular Profiling Drives Progress in Gastrointestinal Cancers

Molecular profiling allows clinicians to identify the molecular and genetic signatures that help to deliver treatments that are highly specific to a tumor. This tool has made possible a number of advances in the past year that are improving care for patients with gastrointestinal cancers. In...

Breast Cancer
Genomics/Genetics

Prevalence of and Risk Associated With Breast Cancer Predisposition Genes: U.S. Population-Based Study

In a U.S. population-based, case-control study reported in The New England Journal of Medicine, Hu et al identified the prevalence of and risk associated with germline pathogenic variants in established and candidate breast cancer predisposition genes. Study Details The study involved 32,247 women...

Genomics/Genetics
Colorectal Cancer
Lung Cancer

Prevalence of KRAS G12C Somatic Mutations by Cancer Type, Race, and Sex

In a study reported in a letter to the editor in The New England Journal of Medicine, Nassar et al identified the prevalence of the formerly “undruggable” KRAS G12C mutation across tumor types, race, and sex. As stated by the investigators, a recently reported early-phase clinical trial has shown...

Genomics/Genetics
Solid Tumors

Capivasertib for AKT1 E17K–Mutated Metastatic Cancers: NCI-MATCH Subprotocol EAY131-Y

As reported in JAMA Oncology by Kevin Kalinsky, MD, MS, and colleagues, the NCI-MATCH trial’s phase II subprotocol EAY131-Y has shown activity of the pan-AKT inhibitor capivasertib in a range of metastatic tumors with an AKT1 E17K mutation. The NCI-MATCH trial, which opened in 2015, is an...

leukemia
genomics/genetics

Sara Zarnegar-Lumley, MD, on AML: Prognostic Effects of IDH Mutations

Sara Zarnegar-Lumley, MD, of Vanderbilt University Medical Center, discusses an analysis of a large cohort confirming the age-associated prevalence of IDH mutations in patients, across the age spectrum, with acute myeloid leukemia and therapeutic implications. IDH-mutated genes were found to co-occur frequently with other mutations, some of which favorably impact outcomes in patients younger than 60 (Abstract 388).

Lung Cancer
Prostate Cancer
Immunotherapy
Genomics/Genetics

FDA Pipeline: Two Reviews in NSCLC, Plus Prescribing Information Update for Darolutamide

Recently, the U.S. Food and Drug Administration (FDA) granted Priority Review to lorlatinib in ALK-positive non–small cell lung cancer (NSCLC) and Breakthrough Therapy designation to the combination of tiragolumab plus atezolizumab in NSCLC with high PD-L1 expression. The FDA also updated the...

leukemia
genomics/genetics

Christian Marinaccio, PhD Candidate: Genetic Driver May Play a Role in Progression of Myeloproliferative Neoplasms to AML

Christian Marinaccio, PhD Candidate, of Northwestern University, describes research he is conducting in the laboratory of John D. Crispino, PhD, which shows the loss of the tumor suppressor gene LKB1/STK11 facilitates progression of myeloproliferative neoplasms to acute myeloid leukemia (Abstract 1).

Skin Cancer
Genomics/Genetics

New Study Explores the Use of Focused Ultradeep DNA Sequencing to Quantify Skin Cancer Risk

Recent research has shed new light on the carcinogenic effect of exposure to ultraviolet (UV) radiation, laying the groundwork for improvements in skin cancer risk stratification and prevention. A study published by Lei Wei, PhD, and colleagues in Science Advances detailed a method to measure the...

Prostate Cancer
Genomics/Genetics

Multiancestry Meta-analysis of Prostate Cancer Genetics

A research team has published findings from a study that brought together data from genomic prostate cancer studies. Including more than 200,000 men of European, African, Asian, and Hispanic ancestry from around the world, the study is reportedly the largest, most diverse genetic analysis ever...

Bladder Cancer
Genomics/Genetics

Germline-Somatic Interactions in Advanced Urothelial Cancer and Their Role in Disease Progression

In a study reported in Nature Communications, Bishoy M. Faltas, MD, of the Department of Medicine, Division of Hematology and Medical Oncology, Weill Cornell Medicine, New York, and colleagues identified common germline-somatic variant interactions in advanced urothelial cancer, with these...

Multiple Myeloma
Genomics/Genetics

Identifying Multiple Myeloma Prognostic Subgroups With Distinct Genetic and Clinical Features

Multiple myeloma is the second most common blood cancer, after non-Hodgkin lymphoma, diagnosed in the United States. In 2020, it is estimated that about 32,270 people will be diagnosed with the cancer, and despite advances in more effective treatments, nearly 13,000 will die of the disease.1...

breast cancer
genomics/genetics
immunotherapy

Joyce V. Lee, PhD, on Triple-Negative Breast Cancer: MYC as a Predictor of Treatment Response

Joyce V. Lee, PhD, of the University of California, San Francisco, discusses data that suggest the MYC oncogene may indicate whether a patient with triple-negative breast cancer will respond to immunotherapy. Dr. Lee’s study is the first to describe MYC downregulation of MHC-I and to demonstrate translatable approaches that may overcome immune evasion (Abstract GS1-08).

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