Phenotypic profiling in pancreatic cancer: promise meets practical limits

Findings from the COMPASS trial, aimed at establishing "the feasibility of a comprehensive real-time genomic analysis of pancreatic ductal adenocarcinoma (PDAC) using whole genome sequencing and RNA sequencing".  While phenotypic profiling has been shown to be effective in treatment-based outcomes, a significant challenge is the 1.5-2 months of time required to receive whole genome sequencing results. 

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HER2 immunohistochemistry testing may not be needed in all solid tumours

 Results from a large-scale cohort study conducted on 65 000 patients with solid tumours undergoing pan-tumour HER2 immunohistochemistry (IHC) testing has shown that "upfront HER2 IHC testing may not be required for all tumour types, especially those that are rarely positive." 

The cohort study further revealed highest HER2 IHC 3+ rates in bladder cancer (13.9%), uterine serous carcinoma (13.6%), oesophago-gastric junction cancer (12.1%), breast cancer (7.8%), gastric adenocarcinoma (6.6%), and salivary gland cancer (6.5%); additional remaining cancer types were all found to have a HER2 IHC 3+ rate of 5% or less. 

To read more about this study, click here.  

Source mentioned: 

Bryant D, Feldman R, Abdulla F, et al. A Real-World Experience in Pan-Tumor Testing for HER2 IHC in More Than 65 000 Solid Tumors . JAMA Oncol; Published online 26 June 2025. doi: 10.1001/jamaoncol.2025.1791

An alternative model for genetic testing delivery proposed with posttest counselling for those with pathogenic variants and on demand for those without pathogenic variants

 Findings from MAGENTA (Making Genetic Testing Accessible), the first randomized clinical study "evaluating the effect of individualized pretest and posttest counselling for cancer risk assessment while providing electronic enrolment, remote testing, and counselling" was recently published in JAMA Oncology.  

Of the 3839 women, ranging in age from 22-91 (average age: 44) included in the MAGENTA study, study authors concluded that alternative models of genetic counselling, such as telehealth, which became particularly prevalent during the COVID-19 pandemic, "provides more flexibility for patients and reduces costs."  

To learn more about the MAGENTA study, click here. 

Source mentioned:  Swisher EM, Rayes N, Bowen D, et al. Remotely Delivered Cancer Genetic Testing in the Making Genetic Testing Accessible (MAGENTA) Trial A Randomized Clinical Trial. JAMA Oncology; Published online 14 September 2023. doi:10.1001/jamaoncol.2023.3748

Prognostic role of ctDNA in patients with surgically resectable colorectal cancer

 Results from GALAXY, part of the CIRCULATE study from Japan, analyzing circulating tumour DNA (ctDNA) was recently published in Nature Medicine.  Investigators from GALAXY demonstrated that "postsurgical ctDNA status is a most significant prognostic biomarker than the currently used high-risk clinicopathological features in resectable colorectal cancer and can potentially be predictive of adjuvant chemotherapy benefit."  The study authors thus believe that incorporating postsurgical ctDNA into TNM staging criteria can be further developed as a result of findings from GALAXY. 

To read more about this study, click here. 

Source mentioned: Kotani D, Oki E, Nakamura Y, Yukami H, Mishima S, Bando H, Shirasu H, Yamazaki K, Watanabe J, Kotaka M, Hirata K, Akazawa N, Kataoka K, Sharma S, Aushev VN, Aleshin A, Misumi T, Taniguchi H, Takemasa I, Kato T, Mori M, Yoshino T. Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer. Nat Med. 2023 Jan;29(1):127-134. doi: 10.1038/s41591-022-02115-4. Epub 2023 Jan 16. PMID: 36646802; PMCID: PMC9873552.

Press Release: Ethnic diversity and disparities in access to genetic testing impact prostate cancer development and treatment

A press release from the European Society of Medical Oncology (ESMO) discusses the importance and need for "ethnically diverse prostate cancer genomics data and accessible genetic testing."   According to Dr. Rodrigo Dienstmann, an oncologist with joint appointments at the Grupo Oncoclinicas in Sao Paulo Brazil as well as the Vall d'Hebron Institute of Oncology in Barcelona, Spain, predisposition to prostate cancer does vary across ethnicities, particularly in men of African and Caribbean descent, who are at increased risk: "such race-related differences can condition the behaviour of the disease and its treatment, yet our current knowledge of prostate cancer genomics is largely limited to data from Europe and the USA, in which Asian and other non-Caucasian ethnicities are scarcely represented." 

To learn more about this press release, click here.  

NGS is effective in identifying actionable genetic alterations for investigational targeted therapies in paediatric and young adult patients with refractory cancers

A recent study published by the Texas Children's Cancer and Hematology Center recently published findings regarding "the feasibility of a nationwide screening and centralized testing Protocol to select patients with tumours harbouring actionable alterations for enrolment in clinical studies of molecularly targeted therapies."   Following completed testing for 94.7% of tumours, actionable alternations were detected in 31.5% of the first 1,000 tumours screened, with "treatment arm assignment and enrolment occurring in 28.4% and 13.1% of patients." 

To read more about this study, click here. 

Source mentioned: Parsons DW, Janeway KA, Patton DR, et al. Actionable Tumor Alterations and Treatment Protocol Enrollment of Pediatric and Young Adult Patients With Refractory Cancers in the National Cancer Institute–Children's Oncology Group Pediatric MATCH Trial. JCO; Published online 30 March 2022. DOI: 10.1200/JCO.21.02838

Tumour signatures defined by next generation sequencing linked to clinical response in breast cancer

 Research recently conducted at the Institute of Pathology in Marburg, Germany, "investigated the hypothesis that genomic patterns of mutational signatures are associated with the clinical behaviour of breast cancer...including chemotherapy response and survival."  According to lead author professor Carsten Denkert, 2 mutational signatures, S3 (HRD) and S13 (APOBEC) were identified as increasing pCR rates "with neoadjuvant chemotherapy in the HR-positive subcohort." 

To read more about this study, click here. 

Source mentioned: Denkert C, Untch M, Benz S, et al. Reconstructing tumor history in breast cancer: signatures of mutational processes and response to neoadjuvant chemotherapy. Annals of Oncology; Published online 5 January 2021. doi: 10.1016/j.annonc.2020.12.016.

Cell-free DNA in urine potential method for cancer detection

Researchers at Baylor University and Phoenix Children's Hospital have discovered a method whereby DNA fragments in urine can differentiate between healthy individuals and those with cancer.  According to study senior author Dr. Muhammed Murtaza, "certain regions of the genome are protected from fragmentation in urine from healthy individuals...but the same regions are more fragmented in patients with cancer." 

To learn more about this study click here. 

Study mentioned:  Havell Markus, Jun Zhao, Tania Contente-Cuomo, Michelle D. Stephens, Elizabeth Raupach, Ahuva Odenheimer-Bergman, Sydney Connor, Bradon R. McDonald, Bethine Moore, Elizabeth Hutchins, Marissa McGilvrey, Michelina C. de la Maza, Kendall Van Keuren-Jensen, Patrick Pirrotte, Ajay Goel, Carlos Becerra, Daniel D. Von Hoff, Scott A. Celinski, Pooja Hingorani, Muhammed Murtaza. Analysis of recurrently protected genomic regions in cell-free DNA found in urine. Science Translational Medicine, 2021; 13 (581): eaaz3088 DOI: 10.1126/scitranslmed.aaz3088

Easing concerns about giving research study participants their genetic test results

A new study shows that participants in genetic studies reported feeling more knowledgeable and less anxious about genetic testing after receiving their results when they had talked about them with a genetic counselor. Currently, people who participate in a research study that includes a genetic test usually don’t get those test results back. In part, that is because of concerns that doing so might create burdens for study participants that outweigh any potential benefits. But these findings suggest that study participants who are interested in receiving their results have positive experiences.


To read more about this study, click here.

National estimates of genetic testing in women with a history of breast or ovarian cancer: new report

A new report published in the Journal of Clinical Oncology provides new U.S. estimates of genetic testing in women with a history of breast or ovarian cancer.  According to cross-sectional data from three Cancer Control Modules, "up to 10% of breast and 15% of ovarian cancers are attributable to hereditable mutations."  This report thus quantifies the unmet need for genetic testing in patients with a history of breast and/or ovarian cancer.

To read this report in its entirety, click here.

Source mentioned: Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017 Aug 18:JCO2017736314. [Epub ahead of print]

New genetic blood test for detecting early stage cancers

A new study conducted at the Johns Hopkins Kimmel Cancer Center has unveiled that a genetic blood test may aid in detecting early stage cancers.  According to Dr. Victor Velculescu, the genetic test "scans blood for DNA fragments released by cancerous tumors, [detecting] many early stage cancers without rending false positives for healthy people."

To read more about this study, click here. 

Researchers ID genes in mice that cause aggressive brain cancer

Researchers at Yale University have identified a specific combination of genes causing aggressive brain cancer glioblastoma in mice.  Following the assessment of more than 1,500 genetic combinations in mice, co-corresponding author Sidi Chen stated that with the human cancer gnome mapped, "we can use this information to determine which existing drugs are most likely to have therapeutic value for individual patients, a step towards personalized cancer therapy,"

To read more about this study, click here

DNA blood test screen for rare sinus cancer

Researchers at the Li Ka Shing Institute of Health Sciences in Hong Kong have discovered that at DNA blood test can screen for nasopharyngeal cancer.  While this form of cancer is rare in the United States (with an occurrence of 1 case in every 100,000 people), it is far more common in southern China and North Africa.  Following a clinical trial conducted on more than 20,000 individuals, "the DNA test would up accurately detecting nasopharyngeal cancer 97% of the time."

To read more about this study, click here.

Scientists report progress on genetic test for anal cancer

A new genetic test being conducted at Cancer Research U.K.may be a "less invasive method to help doctors identify people who are at a higher risk of anal cancer and avoid unnecessary procedures for those who are at a lower risk."  According to Dr. Rachel Orritt, Cancer Research U.K.'s health information officer, this study provides a stronger connection between what is known regarding cell DNA changes and cervical cancer, providing a new more definitive set of biomarkers to identify men and women at increased risk of anal cancer.

To read more about this study, click here 

Gene test may identify chemotherapy patients at risk of blood clots

New research conducted in Sweden indicates that genetic testing may help identify breast cancer patients at risk of developing venous thromboembolism while undergoing chemotherapy.  According to study author Judith Brand, postdoctoral researcher in the department of medical epidemiology and biostatistics at Karolinska Institute in Sweden, the study, conducted on 4,2000 Swedish women with breast cancer showed that "the one-year rate of venous thromboembolism was 9.5% among those reeving chemotherapy and high genetic risk, compared to 1.3% of did not receive chemotherapy and who had a low genetic risk.

To read more about this study, click here.

Risks for breast, ovarian cancers could be found with multigene panel testing

In nearly 100,000 patients who were clinically tested for hereditary cancer risk, utilization of multigene panel sequencing was found to detect ovarian cancer-associated mutations in 11 genes, according to results of a study presented at the 2016 ASCO Annual Meeting.

A second study, also presented at the meeting2, examined the potential harms of multiplex testing for cancer risk, such as unwarranted surgery or adverse psychological effects. However, results showed that, at a 3-month follow-up after genetic testing, the rates of patient distress, intrusive thoughts, or regret of testing were found to be low.


Studies mentioned:
Kurian AW, Hughes E, Handorf E, et al. Association of ovarian cancer (OC) risk with mutations detected by multiple-gene germline sequencing in 95,561 women. J Clin Oncol. 2016;34 (suppl; abstr 5510).
Kurian AW, Idos G, Culver J, et al. Safety of multiplex gene testing for inherited cancer risk: Interim analysis of a clinical trial. J Clin Oncol. 2016;34 (suppl; abstr 1503).

The unbearably slow adoption of genetic cancer tests

Over the past 20 years, Nazneen Rahman, professor and Head of the Division of Genetics and Epidemiology at the Institute of Cancer Research, has identified a steady stream of genes that influence the risk of breast, ovarian, and childhood cancers. But her latest accomplishment, and one of her proudest, is very different. Rahman has created a shortcut in the British healthcare system that will give women with ovarian cancer access to a critical genetic test. The new pathway is cost-efficient, saving time and money as well as lives.

The Clinical Pathway mentioned:
A discrete event simulation to evaluate the cost effectiveness of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer
Anthony Eccleston, Anthony Bentley, Matthew Dyer, Ann Strydom, Wim Vereecken, Angela George, Nazneen Rahman
bioRxiv 060418; doi: http://dx.doi.org/10.1101/060418

Read more here.

Why some tumors withstand treatment: researchers uncover a mechanism that allows cancer cells to evade targeted therapies

March 16, 2016 - A new study from MIT and Massachusetts General Hospital reveals why a certain class of these drugs, known as kinase inhibitors, doesn’t always halt tumor growth. The researchers found that while kinase inhibitors successfully shut down their targets, they also provoke cells to turn on a backup system that can take over for the one knocked out by the drug. Read more here.

Novel strategy isolates immune cells in the blood that recognize melanoma

On March 11, 2016, scientists in NCI’s Center for Cancer Research (CCR) have developed a novel strategy for identifying tumor-reactive and mutation-specific immune cells circulating in the blood of patients with melanoma.

Patients with metastatic melanoma have experienced dramatic tumor regressions in early clinical trials of adoptive cell transfer—a technique in which immune cells are collected from patients, expanded in the laboratory, and infused back into patients to attack the cancer. However, to date, these immune cells have been harvested only from solid tumor tissue, a process that requires invasive surgery and is not always possible. Read more here.

The AURORA molecular screening programme for metastatic breast cancer

URORA is an academia-driven initiative that aims to boost genomic and clinical knowledge generated from metastatic breast cancer patients. It is expected that detailed molecular profiling of breast cancer makes deeper current understanding of the molecular biology underpinning this common disease, promising to lead to personalised cancer medicine, according to description of the programme goals and study plan in an article published by Dr Dimitrios Zardavas and colleagues in the British Journal of Cancer. Read more here.