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Genomics/Genetics
Survivorship

Childhood Cancer Survivors: Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus

In a study reported in the Journal of Clinical Oncology, Im et al found that genetic variants associated with a risk of treatment-related type 2 diabetes mellitus among childhood cancer survivors of African or European ancestry posed a higher risk of diabetes among those of African ancestry. As...

Breast Cancer
Genomics/Genetics

Breast-Conserving Therapy in BRCA-Mutation Carriers: Study Looks at Long-Term Outcomes

Recent research has provided valuable insights into the long-term outcomes of patients with pathogenic BRCA1 and BRCA2 mutations who undergo breast-conserving therapy, according to a study presented at the 2024 Society of Surgical Oncology (SSO) Annual Meeting.1 The observational study found that...

Bladder Cancer
Genomics/Genetics

Metastatic Urothelial Cancer: NECTIN4 Amplification and Response to Enfortumab Vedotin

In a study reported in the Journal of Clinical Oncology, Klümper et al established a fluorescence in situ hybridization (FISH) assay to measure NECTIN4 copy number variations and found that NECTIN4 amplification was associated with high activity of the anti-NECTIN4 antibody-drug conjugate...

Gynecologic Cancers
Genomics/Genetics

Study Identifies Genetic Variants Potentially Linked to Prevalent or Persistent HPV Infections

Investigators have uncovered genetic variants that may predispose certain female patients to prevalent or persistent human papillomavirus (HPV) infections and increase their risk of developing cervical cancer, according to a recent study published by Adebamowo et al in the European Journal of Human ...

Solid Tumors
Genomics/Genetics

BAP1 Mutations May Increase Susceptibility to Asbestos-Induced Malignant Mesothelioma

Researchers have shown that even minimal exposure to chrysotile asbestos may increase susceptibility to the development of malignant mesothelioma in mice with BAP1 germline mutations, according to new findings presented by Kadariya et al at the American Association for Cancer Research (AACR) Annual ...

Prostate Cancer
Genomics/Genetics

Proteogenomic Signatures May Help Identify Risk of Prostate Cancer Progression in Certain Populations

Certain proteogenomic signatures in the prostate cancers of men of African and European ancestries were associated with higher risk of metastasis and/or recurrence of the disease, according to a study presented at the American Association for Cancer Research (AACR) Annual Meeting 2024 (Abstract...

Breast Cancer
Genomics/Genetics

PARP1-Selective Inhibitor in HRR-Deficient Breast Cancer

The novel poly-ADP ribose polymerase-1 (PARP1)-selective inhibitor saruparib demonstrated early efficacy and a favorable safety profile in patients with homologous recombination repair (HRR)-deficient breast cancer, according to new findings presented by Yap et al at the American Association for...

Leukemia
Genomics/Genetics

IKZF1 Genetic Variant May Contribute to Disparities in Risk of ALL in Pediatric Hispanic and Latino Patients

A genetic variant located on the IKZF1 gene may be responsible for disparities in the risk of acute lymphoblastic leukemia (ALL) among Hispanic and Latino children, according to a recent study published by de Smith et al in Cell Genomics. The findings offer insights into the causes of the disease...

Colorectal Cancer
Genomics/Genetics

Effect of HER2 Gene–Expression Levels on Outcomes in Metastatic Colorectal Cancer

As reported in the Journal of Clinical Oncology by Battaglin et al, an analysis from the phase III CALGB/SWOG 80405 trial of first-line chemotherapy plus bevacizumab or cetuximab in patients with metastatic colorectal cancer showed differences in outcomes according to HER2 gene–expression status....

Gynecologic Cancers
Genomics/Genetics

Avelumab Plus Axitinib in Mismatch Repair–Proficient Recurrent or Persistent Endometrial Cancer

The combination of avelumab and axitinib may be effective in patients with mismatch repair–proficient recurrent or persistent endometrial cancer, according to new findings presented by Lee et al at the Society of Gynecologic Oncology’s (SGO) 2024 Annual Meeting on Women’s Cancer. Background...

Colorectal Cancer
Genomics/Genetics
Issues in Oncology

Exploring the Genetic Link Between Colorectal Cancer and Meat Consumption

Researchers have identified two genetic markers that may illuminate the association between red and/or processed meat consumption and the risk of colorectal cancer, according to a novel study published by Stern et al in Cancer Epidemiology, Biomarkers & Prevention. Background Previous studies...

Breast Cancer
Genomics/Genetics

ASCO and SSO Publish New Guideline on Germline Testing in Breast Cancer

ASCO in partnership with the Society of Surgical Oncology (SSO) has released a new guideline addressing recommendations in germline testing in patients with breast cancer.1 The guideline provides oncologists with a framework for how to approach germline testing and recommendations for who should be ...

Solid Tumors
Genomics/Genetics

Inherited Genetic Factors May Influence Risk of Subsequent Cancer Diagnoses in Childhood Cancer Survivors

Investigators have found that common inherited genetic factors capable of predicting cancer risk in the general population may also help to predict childhood cancer survivors who may be at elevated risk of new cancers later in life, according to a recent study published by Gibson et al in Nature...

Breast Cancer
Genomics/Genetics

Finding New Therapeutic Targets for Male Breast Cancer

Researchers have uncovered distinct alterations in the tumor genome of male patients with breast cancer that may suggest potential therapeutic targets, according to a recent study published by Assaad et al in Modern Pathology. Background Breast cancer in male patients represents less than 1% of all ...

Lung Cancer
Genomics/Genetics
Issues in Oncology

Could Smoking-Related DNA Changes Reflect Differential Lung Cancer Risks by Race and Ethnicity?

Investigators may have uncovered differential associations between smoking and DNA methylation across various racial and ethnic groups, according to a recent study published by Huang et al in the American Journal of Human Genetics. The findings could lead to the development of new strategies to...

Gynecologic Cancers
Colorectal Cancer
Bladder Cancer
Head and Neck Cancer
Genomics/Genetics

Can Dual HER2 Blockade Treat More Than Just Breast or Gastric Cancer?

The established dual HER2 blockade of pertuzumab and trastuzumab may be an effective treatment for patients with several types of HER2-amplified cancers, according to a study published by Connolly et al in Clinical Cancer Research. Background HER2 receptors control how cells grow and divide. The...

Lung Cancer
Genomics/Genetics

FDA Approves Amivantamab-vmjw for EGFR Exon 20 Insertion–Mutated NSCLC

On March 1, the FDA approved the monoclonal bispecific anti–EGFR-MET antibody amivantamab-vmjw (Rybrevant) in combination with carboplatin and pemetrexed for the first-line treatment of locally advanced or metastatic NSCLC with EGFR exon 20 insertion mutations, as detected by an FDA-approved test....

Genomics/Genetics
Issues in Oncology

Online Genetic Education Programs May Spur Testing for Patients at Risk for Cancer

Researchers have demonstrated that an online genetic education program may encourage patients with a family history of cancer to undertake genetic testing, according to a recent study published by Rodriguez et al in Gastroenterology. Background Although research has shown that an inherited...

Lung Cancer
Genomics/Genetics

Gene Signature May Predict Response to Combination Therapy in Patients With NSCLC

Researchers have identified a set of 140 genes that may help predict disease-free survival in patients with non–small cell lung cancer (NSCLC) treated with a combination of immunotherapy and low-dose radiation, according to a recent study published by Altorki et al in Cell Reports Medicine. The...

Genomics/Genetics

Preventing Cancer Should Not Mean Sacrificing Quality of Life

My family first suspected we might have inherited the BRCA1/2 gene mutation after my father was diagnosed with his third cancer, colorectal cancer, following multiple bouts of squamous cell carcinoma and basal cell carcinoma beginning in his 30s and later prostate cancer. But the high risk of...

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 ...

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