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Individuals carrying a rare pathogenic variant in one of 16 cancer-associated genes were 1.9 times more likely to develop a single cancer and 2.6 times more likely to develop multiple primary cancers, according to the results of a genetic association study published in JAMA Oncology. These...
Results from a recent study may help to explain why a rare and hyper-aggressive subtype of kidney cancer is susceptible to immunotherapy—information that helped researchers create a first-of-its-kind tool to guide treatment decisions for patients with advanced kidney cancers. The collaborative work ...
For patients with gastrointestinal (GI) cancers, chemotherapy can sometimes cause severe, even life-threatening side effects in those who carry certain genetic variants that may impact how their bodies process the drugs used to treat their disease. Testing for variants in two genes before starting...
Arvind N. Dasari, MD, PhD, of The University of Texas MD Anderson Cancer Center, discusses data presented at the ESMO Gastrointestinal Cancers Congress 2025, which showed that adding circulating tumor DNA (ctDNA) testing to current standard of care surveillance for patients with colorectal cancer (CRC) better identified patients who are appropriate candidates for metastasis-directed therapy. Reference Dasari NA, Nakamura Y, Sorscher S, et al: Clinical utility of including circulating tumor DNA monitoring in standard of care colorectal cancer surveillance. ESMO Gastrointestinal Cancers Congress 2025. Abstract 2O.
Circulating tumor DNA has many roles in cancer treatment: early diagnosis, tumor profiling, determining response to therapy, and tracking clinical dynamics. In this video, Arvind N. Dasari, MD, MS, of The University of Texas MD Anderson Cancer Center, focuses on it as a marker for measurable residual disease (MRD), which can help to determine risk of disease recurrence in patients with cancer. Dr. Dasari reviews the development of assays for MRD, both tumor-informed and tumor-agnostic, and provides top-level data from several clinical trials on the topic that have informed the role of MRD testing in both the colorectal cancer and general solid tumor space. References Tie J, Wang Y, Lo SN, et al: Circulating tumor DNA analysis guiding adjuvant therapy in stage II colon cancer: Overall survival and updated 5-year results from the randomized DYNAMIC trial. 2024 ASCO Annual Meeting. Abstract 108. Lieu CH, Yu G, Kopetz S, et al: NRG-GI008: Colon adjuvant chemotherapy based on evaluation of residual disease (CIRCULATE-NORTH AMERICA). 2024 ASCO Gastrointestinal Cancers Symposium. Abstract TPS243. Tie J, Wang Y, Loree J, et al: ctDNA-guided adjuvant chemotherapy escalation in stage III colon cancer: Primary analysis of the ctDNA-positive cohort from the randomized AGITG dynamic-III trial (intergroup study of AGITG and CCTG). 2025 ASCO Annual Meeting. Abstract 3505. Lumish MA, Jayakumaran G, Fox M, et al: Frequency of minimal residual disease as measured by ctDNA in mismatch repair deficient tumors following curative resection. 2021 ASCO Annual Meeting. Abstract e14520. Kotani D, Oki E, Nakamura Y, et al: Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer. Nature Medicine 29:127-134, 2023. Kasi PM, Aushev VN, Ensor J, et al: Circulating tumor DNA (ctDNA) for informing adjuvant chemotherapy (ACT) in stage II/III colorectal cancer (CRC): Interim analysis of BESPOKE CRC study. 2024 ASCO Gastrointestinal Cancers Symposium. Abstract 9. Maddalena G, Pellatt AJ, Eluri M, et al: INTERCEPT Program of circulating tumor DNA (ctDNA) testing for minimal residual disease (MRD) in colorectal cancer (CRC): Results from a prospective clinical cohort. 2024 ASCO Gastrointestinal Cancers Symposium. Abstract 27. Meyerhardt JA, Shi Q, Fuchs CS, et al: Effect of celecoxib vs placebo added to standard adjuvant therapy on disease-free survival among patients with stage III colon cancer. JAMA 13:1277-1286, 2021. Nowak JA, Shi Q, Twombly T, et al: Prognostic and predictive role of circulating tumor DNA (ctDNA) in stage III colon cancer treated with celecoxib: Findings from CALGB (Alliance)/SWOG 80702. 2025 ASCO Gastrointestinal Cancers Symposium. Abstract LBA14.
Large language models (LLMs) can be trained to understand how each patient’s somatic mutations impact their cancer prognosis and possible response to therapy, according to a presentation at the AACR Special Conference in Cancer Research: Artificial Intelligence and Machine Learning. John-William...
A retrospective cohort study reported in JAMA Network Open revealed that biomarker testing rates among patients with advanced cancer have increased over time but remain suboptimal, despite established guideline recommendations and growing insurance coverage for testing. DaCosta Byfield et al noted...
The Association for Molecular Pathology has introduced best practice recommendations for clinical laboratories developing and performing homologous recombination deficiency testing, according to new guidelines published by Hsiao et al in The Journal of Molecular Diagnostics. Background Homologous...
The relationship between genetic variants and the risk of late-onset cardiomyopathy remains poorly understood in survivors of childhood cancer despite being otherwise well established. Scientists from St. Jude Children’s Research Hospital have helped address this gap, assessing whether variant...
The American Society of Hematology (ASH) announced that it will recognize 11 hematologists who have made notable contributions to the field with several honorific awards and prestigious lectures at the 2025 ASH Annual Meeting & Exposition in Orlando, Florida, from December 6–9, 2025. The...
A common germline variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) (rs562556, V474I) gene rather than a mutation in a breast cancer tumor may be the driving force in significantly increasing the risk of breast cancer metastasis and reducing survival in women with the disease....
The risk of developing breast implant–associated anaplastic large-cell lymphoma (ALCL) could be higher among women with breast cancer and BRCA1 or BRCA2 mutations who received textured breast implants as part of their postmastectomy reconstructive surgery compared with patients lacking the genetic...
Researchers may have uncovered genetic differences that may help predict response to immune checkpoint inhibitors among patients with metastatic melanoma, according to a recent study published by Monson et al in Nature Medicine. Background The investigation revolved around mitochondrial haplogroups ...
In the phase III ALASCCA trial, the use of adjuvant daily aspirin for 3 years reduced the risk of recurrence in colorectal cancer harboring PI3K pathway alterations by 51%, according to research in a Scandinavian population presented at the 2025 ASCO Gastrointestinal Cancers Symposium by Anna...
In a long-term follow-up of an Israeli phase II trial reported in a research letter in JAMA Oncology, Evron et al compared prophylactic radiation therapy (RT) of the contralateral breast vs surveillance in BRCA pathogenic variant carriers with early-stage breast cancer. Study Details In the...
Violaine Randrian, MD, PhD, of Memorial Sloan Kettering Cancer Center and CHU/Université de Poitiers, reviews gene-specific outcomes in patients with Lynch syndrome treated with immune checkpoint inhibitors for advanced cancer (Abstract 10504).
Researchers have identified a gene that could play a key role in the transition to a more aggressive, treatment-resistant type of prostate cancer, according to a recent study published by Duan et al in the Journal of Clinical Investigation. The findings indicated that the gene may be indirectly...
Researchers may have uncovered factors contributing to poor outcomes among patients with prostate cancer, according to recent findings presented by Dall’Era et al at the 2025 ASCO Annual Meeting (Abstract 5104). The findings may lead to the development of novel targeted therapies, particularly in...
Angela R. Bradbury, MD, of the University of Pennsylvania, presents findings from the eREACH trial—a randomized study of an eHEALTH delivery alternative for cancer genetic testing for hereditary predisposition in patients with metastatic cancers (Abstract 10502).
South Florida has a unique demographic, characterized by a large Hispanic population with ancestries from the Caribbean and Central and South America. Arelis Esther Martir-Negron, MD, of Miami Cancer Institute, presents data from a retrospective analysis that sought to determine the frequency and spectrum of BRCA pathogenic/likely pathogenic variants in this population (Abstract 10579).
Researchers may have uncovered early indications of the clinical benefit of niraparib in patients with advanced melanoma whose tumors have specific genetic changes impacting DNA repair, according to a recent study published by Kim et al in JCO Precision Oncology. Background The U.S. Food and Drug...
Investigators have uncovered how a specific sequence of cancer therapies could improve outcomes among patients with relapsed/refractory mature T- and natural killer (NK)-cell lymphomas, according to a recent study published by Sorial et al in the British Journal of Haematology. Background...
Researchers may have uncovered the role of Plasmodium falciparum malaria in the development of Burkitt lymphoma, according to a recent study published by Ariera et al in The Journal of Immunology. Background Uncomplicated malaria occurs when a patient’s symptoms are nonspecific, including fever,...
Using next-generation DNA sequencing, researchers have identified four specific genes whose mutations are linked to the development and progression of lethal stomach cancers. This could potentially enable practitioners to offer targeted treatments that would spare many patients from unnecessarily...
According to the results of a molecularly matched, tumor-agnostic phase II trial, the combination of the PARP inhibitor olaparib and the PD-1 inhibitor pembrolizumab demonstrated antitumor activity with no new safety signals, particularly in patients with BRCA1/2 mutations. Data from this...
Although next-generation sequencing to assist decision-making for genomics-driven therapy in patients with advanced solid tumors has traditionally been conducted using tissue biopsy samples, recent data support the use of plasma-based circulating tumor DNA (ctDNA) for the genomic profiling of solid ...
The oral KRAS G12D inhibitor zoldonrasib could provide clinical benefit in patients with previously treated non–small cell lung cancer (NSCLC) whose tumors harbored a KRAS G12D mutation, according to new findings presented by Arbour et al at the 2025 American Association for Cancer Research (AACR)...
More than 20% of cancer-related claims for next-generation sequencing (NGS) from Medicare beneficiaries were denied between 2016 and 2021. Findings from a cohort study published in JAMA Network Open suggested that there is continued uncertainty about the boundaries of coverage for NGS, even with...
A new study showed that approximately 80% of patients with stage III melanoma who had detectable levels of circulating tumor DNA (ctDNA) before they started treatment to suppress their tumors went on to experience recurrence. Researchers also found that the disease returned more than four times...
A whole-genome sequencing–based, error-corrected method for detecting cancer from blood samples could be more sensitive and accurate in monitoring disease status posttreatment among patients with cancer compared with prior methods, according to a recent study published by Cheng et al in Nature...
Pancreatic ductal adenocarcinoma, the most common type of pancreatic cancer, is also among the most deadly, with an average 5-year survival rate of less than 10%. The malignancy is often preceded by precancerous lesions. Traditional treatments of the cancer, including chemotherapy, surgery, and...
A newfound role for the cancer gene BRCA2 suggests why only select patients have benefited from treatment with PARP1 inhibitors to date. The results of a study by investigators at NYU Langone Health were recently published in the journal Nature. In brief, PARP inhibitors act by impairing...
The clinical application of BCR::ABL1 digital polymerase chain reaction (PCR) testing may reliably quantify stable deep molecular remission in patients with chronic myeloid leukemia (CML), which could help determine when maintenance therapy may be discontinued successfully, according to a recent...
In an Israeli retrospective cohort study reported as a research letter in JAMA Network Open, Armon et al found that presymptomatic awareness of BRCA1/BRCA2 pathogenic variant carrier status was associated with better outcomes in several measures in women with ovarian cancer. Study Details The...
Investigators have found that nearly 50% of women diagnosed with ovarian cancer may not be receiving the genetic testing that could help guide their treatment and potentially improve outcomes, according to a recent report conducted by the Ovarian Cancer Research Alliance (OCRA) and Komodo Health....
Investigators studied race-associated molecular differences in the pancreatic tumors of Black and White patients to determine whether such differences were associated with response to immunotherapy. The findings were published recently by Mandal et al in Cancer Research Communications and reinforce ...
Investigators may have uncovered nearly identical mutations to previously examined patient populations and several notable differences that may be clinically relevant among Black patients with ovarian cancer, according to a recent study published by Lawson-Michod et al in Cancer Research....
Researchers have uncovered a novel combination therapy leveraging the U.S. Food and Drug Administration (FDA)-approved KRAS inhibitor sotorasib and an experimental drug called FGTI-2734, which could improve the efficacy of precision medicine in patients with KRAS-mutated non–small cell lung cancer...
Investigators may have identified new strategies for use in the primary care setting to improve the detection of cancer-susceptibility genes, according to a recent study published by Swisher et al in JAMA Network Open. Background Up to 10% of cancers—including breast cancer, ovarian cancer,...
In a Children’s Oncology Group (COG) study reported in the Journal of Clinical Oncology, Berko et al identified the spectrum and clinical significance of clonal and subclonal pathogenic alterations in high-risk neuroblastoma. Study Details The study involved use of a focused high-risk neuroblastoma ...
Researchers have uncovered several biomarkers that may predict how patients with metastatic castration-resistant prostate cancer will respond to the novel combination of ipatasertib and abiraterone, according to a recent study published by Bono et al in European Urology. Background Prostate cancer...
In a study reported in the Journal of Clinical Oncology, Matteo Lambertini, MD, and colleagues identified clinical characteristics of breast cancer in young women carrying germline pathogenic variants in BRCA1 vs BRCA2 and examined the effect of prediagnostic BRCA testing on outcomes. Study...
An innovative combination of treatment strategies involving myeloid cell leukemia (MCL)-1 inhibitors and a kinase inhibitor targeting the SRC oncogene could be effective at triggering cell death in acute myeloid leukemia (AML) cells, according to a recent study published by Hu et al in Signal...
Germline or somatic mutations in the BRCA1 gene might not be key to the initiation of prostate cancer, as previously thought, suggests the first study of its kind, published in BMJ Oncology. If confirmed in further studies, the findings suggest that it may be time to reassess current treatment...
Offering genetic testing to patients with multiple myeloma may help physicians to determine which patients have the most aggressive types of the disease and how to target their malignancy more effectively, according to a recent study published by Kaiser et al in the Journal of Clinical Oncology....
Researchers have found that inhibiting the S6K2 gene could be an effective strategy for managing treatment-resistant melanoma, according to a recent study published by Lipchick et al in Science Translational Medicine. Background Cases of melanoma—the deadliest type of skin cancer—are currently...
Researchers may have uncovered a novel strategy to help predict how well patients with KRAS G12C–mutated non–small cell lung cancer (NSCLC) will respond to new therapies, according to a recent study published by Kato et al in Clinical Cancer Research. Study Methods and Results Researchers developed ...
Researchers have uncovered new heredity genes that may contribute to an increased risk of developing high-grade serous ovarian cancer, according to a recent study published by Subramanian et al in npj Genomic Medicine. Background High-grade serous ovarian cancer is one of the most prevalent and...
The U.S. Food and Drug Administration (FDA) has provided a safety announcement to increase awareness of recent updates to the product labeling of capecitabine and fluorouracil related to the risks associated with dihydropyrimidine dehydrogenase (DPD) deficiency. Background Fluoropyrimidines are a...
First-line treatment with the targeted therapies encorafenib and cetuximab plus a modified leucovorin, fluorouracil, and oxaliplatin (mFOLFOX6) chemotherapy regimen may be effective in patients with BRAF V600E–mutated metastatic colorectal cancer, according to recent findings presented by Kopetz et ...