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At least 19 recordsLinked to original sources

PubMed2026

Artificial intelligence-supported double reading in European population breast cancer screening: A systematic review and meta-analysis of prospective programs.

BACKGROUND: Most European population mammography screening programs rely on double reading with arbitration, a model that delivers mortality benefit but is increasingly challenged by radiologist workload, variable specificity, and interval cancers. Artificial intelligence (AI) is being evaluated to support or optimize these established European screening pathways. PURPOSE: To synthesize prospective or program-embedded evaluations of AI conducted within European-style population screening programs and to estimate exploratory program-level absolute risk differences (RDs) per 1000 examinations for cancer detection rate (CDR) and recall. MATERIALS AND METHODS: We performed a prespecified, focused evidence synthesis of three large studies embedded within routine population screening programs operating under European-relevant workflows: MASAI (randomized AI-supported risk triage within a national program), ScreenTrustCAD (prospective paired-reader evaluation with AI as an independent reader in a double-reading framework), and PRAIM (nationwide decision-referral implementation). Outcomes were harmonized as AI-control RDs per 1000 examinations. Random-effects pooling used Hartung-Knapp-Sidik-Jonkman models. For the paired-reader design, sensitivity analyses applied a Kish effective sample-size approach across plausible within-examination correlations (ρ = 0.3-0.8). Positive predictive value (PPV) and workflow/time outcomes were summarized descriptively. RESULTS: Across 597,419 examinations, the pooled CDR RD was +0.9 per 1000 (95% CI -0.0 to +1.8; I2 ≈ 12%), consistent with a modest directional increase with borderline statistical uncertainty. The pooled recall RD was -0.6 per 1000 (95% CI -3.1 to +2.1; I2 ≈ 41-43%), indicating no consistent recall increase across screening programs. Where reported, PPV was higher with AI-supported screening. Efficiency signals included 44.3% fewer total readings in MASAI and shorter reading times for AI-normal examinations in PRAIM; in PRAIM, a program-level safety-net mechanism recovered 204 cancers that would otherwise have been missed. CONCLUSION: In European population screening programs characterized by double reading and arbitration, prospective program-embedded evidence suggests that AI integration may yield a small absolute increase in cancer detection (≈1/1000) without a consistent increase in recall, alongside improved PPV and efficiency signals. These findings suggestAI primarily as a complementary reader within European screening workflows, with implementation requiring explicit quality assurance and monitoring of interval cancers and stage distribution.

Humans↗

PubMed2026

Multicancer Detection Tests for Population-Wide Screening of Asymptomatic Individuals: A Systematic Review.

PURPOSE: Multicancer detection (MCD) tests aim to detect different cancer types using a single test. However, evidence on their potential for screening asymptomatic populations remains limited. We consolidated evidence from prospective cohort studies evaluating blood-based MCD tests in primarily asymptomatic adults to contextualize upcoming randomized controlled trial results. MATERIALS AND METHODS: We updated and extended a prior review (to September 2023), conducting comprehensive Medline/Embase searches to February 1, 2026. Key outcomes included cancers detected and not detected by MCD tests, false-positive MCD tests, and diagnostic investigation pathways. Risk of bias (RoB) was assessed using a modified Quality Assessment of Diagnostic Accuracy Studies-2 tool. RESULTS: From 2,723 screened records (244 previously shortlisted to 2023, 2,479 records for 2023-2026), we included 18 articles (12 studies, nine MCD tests); of these, 11 articles had not appeared in prior reviews. Cancer detection rates varied widely between studies, for example, new MCD-test-detected invasive cancers diagnosed ≤12 months post-test ranging from 18.8 (95% CI, 11.0 to 30.1) to 43.8 (95% CI, 29.4 to 62.8) per 10,000 tested, with MCD-test-detected invasive stage I to II cancers ranging from 9.0 (95% CI, 4.2 to 17.2) to 21.0 (95% CI, 11.6 to 35.5) per 10,000 tested. False-positives exceeded MCD-test-detected cancers (eg, approximately 1.6-fold in PATHFINDER, 1.5-fold K-DETEK, 4.2-fold DETECT-A, 8.1-fold SeekInCare studies). Diagnostic investigation pathways were prespecified/suggested in four of eight interventional studies. Where reported, the median time to diagnostic resolution varied from <0.1 months to 4 months for MCD-test-detected cancers, with substantially higher 75th percentiles (3.1-7 months), and similar patterns were observed for false-positive MCD tests. No study was judged to have overall low RoB. CONCLUSION: Substantial heterogeneity in cancer yield metrics likely reflects differences in MCD technologies, diagnostic pathways, follow-up duration, and background standard-of-care screening. Long-term follow-up, randomized trials, fully-paired test comparisons, and implementation research are essential to determine the potential of MCD tests for population screening.

Journal Article↗

PubMed2026

Large-scale simulation of coverage and error rate tradeoffs for cancer detection in cell-free DNA whole-genome sequencing.

MOTIVATION: Cell-free DNA (cfDNA) whole-genome sequencing (WGS) is a promising approach for detecting cancer recurrence. It enables cancer detection by identifying all tumor-derived cfDNA (ctDNA) molecules carrying somatic single nucleotide variants (sSNVs). While ideally, a sequencing platform should be highly accurate for reliable ctDNA detection, in reality, all sequencing platforms introduce sequencing errors that generate false positives indistinguishable from true SNVs. Understanding how sequencing parameters influence ctDNA detection sensitivity at low tumor fractions (TFs) in cfDNA samples is essential for guiding sequencing strategies in clinical contexts. To model cfDNA sequencing for tumor detection, which contains asymmetric noise and multiple interacting parameters, analytical modeling is intractable, motivating large-scale parallelized simulation. RESULTS: We developed a simulation framework to generate in silico cfDNA data across 10 cancer types. In total, 480 million cfDNA samples were simulated from tumor WGS profiles. Overall, the lowest detectable TF differs substantially between cancer types under identical sequencing conditions due to variations in mutational load. For cancers with high mutational load, 3× coverage with low-error techniques reliably detects TFs below 0.1%. In contrast, cancers with low mutational load require at least six-fold higher coverage to achieve comparable detection thresholds. Increasing sequencing quality scores from Q30 to Q55 at 30× coverage further enhances sensitivity, enabling detection of TFs as low as 1 × 10-5. This study provides a comprehensive framework for optimizing sequencing parameters, offering valuable guidance for tailoring future technology development for specific cancer types and clinical applications. AVAILABILITY AND IMPLEMENTATION: The code is publicly available at https://github.com/UMCUGenetics/cfdetect/tree/main.

Whole Genome Sequencing↗

PubMed1979

Screening is not diagnosis.

Mammography and physical examination, usually employed as diagnostic tools, may be used to screen for early detection of breast cancer. A study of these modalities used to aggressively screen patients in Cincinnati and Milwaukee is presented and compared to more traditional methods of breast cancer detection and diagnosis as done in Louisville. For a similar-sized group over the same period, the rate of cancers detected in Louisville did not exceed that in Cincinnati-Milwaukee. Aggressive screening will not increase the overall number of detected cancers but will decrease the number of advanced cancers. Mammography as a screening device is not in itself a diagnostic tool, since its potential benefit is maximized only through the use of nondiagnostic, indirect radiographic criteria.

Aged↗

PubMed1976

Significance of peritoneoscopic examination, direct cholangiography and cytological examination of aspirated bile in the diagnosis of biliary and pancreatic malignancies.

The roles played by peritoneoscopic examination, direct cholangiography and cytological examination of aspirated bile at the time of direct cholangiography were studied in 140 patients with various biliary and pancreatic diseases. Both peritoneoscopic and cholangiographic examinations were important in detecting the lesion, and cytological examination was effective in deciding the nature of the lesion. The detection rate of the cancer cells in aspirated bile depended upon the location of aspiration in relation to that of the lesion. The closer the distance the better was the detection rate. The combined use of these three diagnostic methods contributed to correct diagnosis.

Bile↗

PubMed1979

Indications and risk-benefit of mammography.

Mammography has recently undergone a striking improvement in image detail along with a corresponding decrease in radiation exposure. Although the data of the Breast Cancer Detection Demonstration Project is tainted by an absence of a control group of women, the high rate of detection of early cancer by mammography alone in the participants above or below age 50 years implies that mammography is useful in detecting breast cancer before the appearance of a palpable mass. Early diagnosis results in higher survival rates. Mammographers should continuously seek the least radiation exposure consistent with a sharp image. Given present knowledge of its benefit and potential risk, mammography should be performed when a significant suspicion of breast cancer exists at any age, but it should not be performed under age 35 years without such suspicion. A baseline mammogram should be performed in the 35 to 40-year age group. The periodicity of survey mammography in asymptomatic women under 50 years should be determined by analysis of relative risk factors for breast cancer. For asymptomatic women age 50 years and older, periodic screening mammography is sound medical practice.

Adult↗

PubMed1978

Clinicopathological study on 100 early gastric cancer cases.

Clinicopathological study was given to 100 early gastric cancer cases. The cases included 50 intramucosal lesions (m-group) and 62 submucosal lesions (sm-group), and the share is 17% of whole cases treated surgically. The sex ratio is about 2:1 (male : female). According to the classification by location, the occurrence rate of lesion on anterior wall is 18.8%. This fact suggests the impotance of roentgenscopy by compression technique and double contrast in a prone position focussed on anterior wall. In addition, endoscopy is essential in order to detect minute cancers. The rates of metastasis of early gastric cancers is 2.4% of m-group and 16.1% of sm-group. No metastasis occurs in protruded or elevated type as far as cancer cells remain within the mucosa. Once cancer cells infiltrate into the submucosa, metastasis is observed in 36%. In the present cases, 9 (9%) out of 100 cases of early gastric cancers are the multiple cases. In order to avoid oversight of cancer foci, the portion of stomach to be remained after surgery should be throughly examined prior to operation and again under direct vision after gastric incision.

Adenocarcinoma↗

PubMed1979

Microwave thermography: principles, methods and clinical applications.

We review the physical principles, method of operation, measurement limitations, and potential medical applications of microwave thermography. We present detailed results of a study of breast cancer detection at 1.3 and 3.3 GHz, including the dependence of detection rates on microwave frequency, time, tumor depth, and tumor size. At 1.3 GHz, microwave thermography detects breast cancer as well as infrared thermography (true-positive rate = 0.76 when true-negative rate = 0.63). When the two methods are combined, the true-positive rate increases by about 0.1 over that of either method alone.

Breast Neoplasms↗

PubMedDate not supplied

The mammography controversy: a case for breast self-examination.

More and more nurses are held legally accountable for their practice. The mammography controversy and the directives in the NIH guidelines must be taken into account by nurses because of their implications for preventive health care and early detection of breast cancer. Mortality rates from breast cancer are high enough that the importance of regular, competent BSE by women cannot be overestimated. Nursing is in an ideal position within the health care delivery system to promote BSE. In the meantime, the answer to the question of whether to use mammography as a routine screening device for asymptomatic women under age 50 can only come from research that is designed to demonstrate the relative risks and benefits of the procedure for this age group.

Adult↗

PubMed1977

[Clinical aspects of bronchial cancer].

The most frequent cause of death of the male is cancer of the lungs. The prognosis is still unfavourable. The cases of patients having survived for 5 years amount altogether to not more than 5%, as far as operated patients are concerned, the quota amounts to 20-25%; in cases of early detection of cancer, however, the rates are up to 40%. Precaution and preventive care (reduction of cigarette consumption) is at present not possible. Considerable time is being wasted because of the uncharacteristic and gradually proceeding symptoms and misinterpretations of the X-ray findings. The bronchial carcinoma can imitate any other disease of the lungs. Even a normal X-ray picture does not exclude carcinoma. The observation of acute symptoms appearing for the first time and of those already existing, but changing suddenly, is essential. Exclusive treatments are dangerous. Any X-ray finding of the lungs should be followed up to all bronchological details. A "normal" X-ray picture, accompanied by clinical symptoms, requires basic diagnostic measures including bronchoscopy.

Aged↗

PubMed1979

An endoscopic staining method for detection and operation of early gastric cancer.

The long term survival rate of gastric cancer has been much improved, and the 5-year survival rate in our institute was 42% with a significant difference between 29% in the advanced stage and 94% in the early stage. This result means that gastric cancer must be detected and treated early as possible. However, the diagnosis of early gastric cancer may remain extremely difficult even for an excellent endoscopist. Therefore, in order to clearly recognize early gastric cancer, an endoscopic staining method with methylene blue has been studied. In this method, one capsule of 150 mg methylene blue is swallowed with a small amount of proteinase solution 3 hours before endoscopy. Gastroscopy is performed routinely after this preparation. This procedure was performed on 153 gastric cancers and 137 of them (89.5%) have been successfully dyed in dark blue. In several cases, with this method, the actual borderline between the normal mucosa and the malignant extent was clearly recognized and resection line was decided. Introduction of methylene blue into the stomach could also stain the intestinalized epithelium of the gastric mucosa. Differential diagnosis of the dyed intestinal metaplasia and the dyed carcinoma seems to be very easy, because both gastric lesions have the characteristic dyed patterns. Mechanism of this phenomenon has been considered to be due to an absorption of the dye in the intestinal metaplasia, and in the gastric cancer, many factors may be involved, among which are the infiltration or diffusion of the dye into the cancerous tissue, the absorption from the abnormal epithelium, and the staining of the necrotic tissue.

Adenocarcinoma↗

PubMed2025

KRAS Mutations in Duodenal Lavage Fluid After Secretin Stimulation for Detection of Pancreatic Cancer.

OBJECTIVE: Although pancreatic ductal adenocarcinoma (PDAC) is still a devastating disease, the survival rate for surgically removed PDACs has significantly improved in recent years. Early detection is essential in managing PDAC. BACKGROUND: The presence of KRAS mutations in PDAC leads to the initial genetic abnormality and offers a significant timeframe for identifying resectable PDACs. A minimally invasive and highly specific PDAC screening test is necessary to prevent the need for invasive follow-up tests. METHODS: Between July 2021 and March 2023, 169 cases were enrolled in 7 institutions. By administering secretin before esophagogastroduodenoscopy (EGD), the excretion of pancreatic juice into the papillary fluid can be stimulated, creating a resource for testing. Washing fluid was collected using a specialized catheter from control individuals (n=75) and patients with resectable PDAC (n=89) at the initial diagnosis. A highly sensitive technique was employed to study KRAS gene mutations. RESULTS: This study obtained an AUC of 0.934 (95% CI: 0.904, 0.964) when using KRAS mutations in duodenal lavage fluid to differentiate between patients with resectable PDAC and healthy controls. The estimated sensitivities were calculated with specificity set at 100%, resulting in a sensitivity of 83.1% (95% CI: 71.7%, 91.2%). The McNemer test showed a significantly higher sensitivity for KRAS mutations than serum CEA and CA19-9 ( P <0.0001). CONCLUSIONS: We created a method to identify resectable PDACs by analyzing KRAS mutation levels in duodenal fluid collected during EGD with secretin stimulation of pancreatic juice secretion.

Humans↗

PubMed1978

The treatment of thyroid carcinoma with radioactive iodine.

Radioiodine (131I) treatment of well-differentiated thyroid carcinoma is a well-evaluated therapeutic model for nuclear medicine which has never been equaled by subsequent developments. It is still a unique method of treating cancer. The treatment of thyroid cancer begins with a systematic approach to the most common first symptom or sign; a neck mass. Data have accumulated to show that well-differentiated thyroid cancer does kill commonly enough to warrant aggressive treatment, even in young individuals. There is also evidence that the more complete the thyroidectomy, the lower the death and recurrence rate of the thyroid cancer, and the more effective the use of 131I in both detecting and treating metastases. There are now considerable data demonstrating that 131I after surgery decreases both the recurrence rate and death rate from well-differentiated thyroid cancer. After uptake is "ablated", there is a 1%--2% recurrence rate in patients with the most extensive disease at the time of the initial treatment. This recurrence is effectively retreated with another dose of 131I. Surgery and 131I should be used as long as they are effective before resorting to teletherapy. There are now considerable data to show that the morbidity of surgical and 131I treatment is reasonable in contrast to the recurrence and death rate from nonaggressively treated well-differentiated thyroid carcinoma. Serious consideration should be given to using a low iodine diet before treatment with radioiodine.

Goiter, Nodular↗

PubMed1976

The detection and diagnosis of early, occult and minimal breast cancer.

Radical mastectomy as originally conceived at the turn of the century consisted of complete removal of the breast tissue, the overlying skin, the pectoral muscles, the intervening lymphatics and the axillary lymph nodes. The aim was logical but initially the results were poor. Only 41% of the 76 patients in Halsted's original series were without disease at the end of 3 years. The principal reason for this was the advanced stage of disease in the patients selected for treatment. By contrast, Gilbertsen, using clinical examination alone, surveyed women 45 years of age or older and found that of 32 patients with breast cancers detected by the screening procedure, 24 had no axillary lymph node involvement. The absolute 5-year survival rate of this group was 96%, which approaches the anticipated survival of comparable women free of breast cancer. Those with positive lymph nodes had an absolute survival rate of 75% at 5 years. Further, of 13 patients observed for 10 years, the survival rate for those without node involvement was 90% and for patients with node involvement was 33%. Patients treated at the Barnes Hospital in St. Louis between 1912 and 1933 were contrasted with similarly treated patients at the Barnes Hospital and the Ellis Fischel Cancer Hospital from 1940 to 1955. A poorer survival rate in the earlier series was related primarily to the greater frequency of advanced and larger tumors. That a significant reduction in breast cancer mortality can be achieved is becoming increasingly apparent. Among survey-detected breast cancers in the study conducted by the Health Insurance Plan of Greater New York, the 6-year mortality was half of that of controls. This reduction is even more impressive when one considers that among these patients were many with full invasive, mass-forming carcinomas at the time of initial screening. A recent report by Wanebo, Huvos and Urban discusses the treatment of prognostically favorable forms of breast cancer by modified radical mastectomy. It is possible to select from among their patients those who fit the definition of minimal breast cancer. In this group the 5-year survival rate was 97% and the 10-year survival rate was 95%. Only 1 patient died of breast cancer in 10 years. In another reported group of 65 patients with intraductal carcinoma only, there were no deaths due to breast cancer in 10 years. Should the NCI-ACS demonstration projects show, as now seems probable, that community screening programs can be effective in early breast cnacer detection, it is to be anticipated that widespread public demand for screening facilities will follow. This may present insurmountable logistic and economic problems. The total number of radiologists in the United States is not sufficient to screen annually the total population of women over age 40, or even over age 50. There is great need for the development of criteria for the ready identification of that segment of the population in which most of the cancers would be found...

Adult↗

PubMed2026

Neoadjuvant Paclitaxel, Trastuzumab, and Pertuzumab for Stage II to III, ERBB2-Positive Breast Cancer: A Secondary Analysis of the DAPHNe Trial.

IMPORTANCE: The neoadjuvant combination of paclitaxel, trastuzumab, and pertuzumab (THP) represents a promising abbreviated regimen for early-stage ERBB2-positive breast cancer, but long-term outcomes and the role of ultrasensitive circulating tumor DNA (ctDNA) monitoring remain incompletely defined. OBJECTIVE: To assess 5-year outcomes and characterize ctDNA dynamics with an ultrasensitive assay in patients with ERBB2-positive breast cancer receiving neoadjuvant THP. DESIGN, SETTING, AND PARTICIPANTS: This study was a prespecified secondary analysis of the prospective, single-arm, investigator-initiated phase 2 DAPHNe nonrandomized clinical trial. Patients were enrolled in the DAPHNe trial from November 2018 to January 2020. The trial took place at a multicenter academic cancer center and affiliated community practices. Participants included patients with stage II to III ERBB2-positive breast cancer receiving neoadjuvant THP for 12 weeks. Ultrasensitive ctDNA analyses were performed in patients with available tumor tissue and serial plasma samples. The secondary analysis was conducted between between March 2023 and April 2025. INTERVENTIONS: Neoadjuvant THP administered for 12 weeks, followed by surgery and adjuvant therapy guided by pathologic response. MAIN OUTCOMES AND MEASURES: Main outcomes included 5-year event-free survival, recurrence-free interval (RFI), distant RFI, and overall survival. ctDNA detection and clearance were assessed using a whole-genome-based, tumor-informed ultrasensitive assay at 4 predefined time points (baseline, preoperative, postoperative, and late adjuvant). RESULTS: The overall trial cohort included 98 patients (median [IQR] age, 49.5 years [24.0-78.0 years]; 97 female patients [99.0%]; 1 male patient [1.0%]), with mostly stage 2 disease (91 patients [92.9%]) and hormone receptor-positive tumors (65 patients [66.3%]). With a median (IQR) follow-up of 5.2 (5.0-5.4) years, the 5-year event-free survival was 99% (95% CI, 97%-100%), the 5-year RFI was 98% (95% CI, 93%-100%), the 5-year distant RFI was 100% (95% CI, 100%-100%), and the 5-year overall survival was 99% (95% CI, 97%-100%). Among 57 patients included in ctDNA analyses, baseline ctDNA was detected in 51 individuals (89.5%). After neoadjuvant therapy, ctDNA clearance occurred in 49 of 51 patients (96.1%), with only 2 individuals (3.9%) remaining ctDNA-positive preoperatively; detectability remained low (<10%) during postoperative follow-up. One single patient experienced a local recurrence, with ctDNA detected at time of recurrence and cleared following surgical resection. CONCLUSIONS AND RELEVANCE: In this secondary analysis of the DAPHNe nonrandomized clinical trial, neoadjuvant THP was associated with excellent long-term outcomes in patients with early-stage ERBB2-positive breast cancer. Ultrasensitive ctDNA analyses demonstrated high baseline detection rates and near-universal clearance after abbreviated neoadjuvant therapy, supporting further investigation of ctDNA-guided de-escalation strategies in this setting. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03716180.

Humans↗

PubMed1978

Mammographic parenchymal patterns as risk indicators for incident cancer in a screening program: an extended analysis.

In a screening program of self-referred women, different mammographic parenchymal patterns were related to significantly different rates for developing breast cancer. The risk of cancer detection subsequent to a negative mammographic examination was 7.6 times greater for women in the highest parenchymal risk class compared with the lowest, an increase in risk comparable to that of a personal history of breast cancer and greater than that reported for any other combination of historical risk factors. These differences are qualitatively similar to, but of a lesser magnitude than, those in previous reports which were based on symptomatic women with previous negative mammograms. Data suggest this difference in risk is inherent between parenchymal patterns, rather than indicating difficulty in identifying small cancers in dense breasts. Findings of differential parenchymal risk, coupled with other risk factors, may lead to concentrating mammographic screening on a smaller segment of the population, thus improving the benefit-to-cost ratio.

Adult↗

PubMed1977

[Endometrial cancer and extraglandular oestrogen biosynthesis (author's transl)].

An increasing incidence of endometrial cancer caused by a higher life expectancy and a number of other facters (i.e. obesity, diabetes, hypertension, lower pregnancy rate) as well as the unfavorable location for early detection when compared with cervical cancer has initiated this review in order to single out women with increased risk. Clinical characteristics of patients with endometrial cancer represented by age, menstrual disorders, reduced fertility, obesity, diabetes, hypertension, hirsutism, hyperplasia of the ovarian stroma or hilus cells in connection with an increased oestrogen effect in the vaginal smear and proliferative changes of the endometrium can be explained by extraglandular respectively peripheral aromatization of androgens to oestrogens, particular by the conversion of androstenedione to oestrone. This is supported by an increased plasma oestrone/oestradiol-ratio and increased conversion rate with age and overweight. In vivo- and in vitro-investigations have demonstrated the participation of adipose tissue in peripheral oestrogene production. The compiled data point towards the importance of the extraglandular oestrone production for the etiology of endometrial cancer by effecting the endometrium over a long period of time. The counter action of the normally cyclic changes of oestradiol and progesterone is lacking. Therefore, a dysoestrogenic effect of oestrone upon the endometrium can be fully effective, depending on the hormone receptor content of the respective endometrium. Based upon these data including recent publications, pre- and postmenopausal oestrogen therapy has to be critically reevaluated.

Adipose Tissue↗

PubMed2026

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.

Individuals with hereditary cancer syndromes are born with germline genetic variants that significantly increase their lifetime risk of developing multiple cancers. Cancer rates and overall mortality can be reduced with intensive surveillance to facilitate early cancer detection. However, participating in diagnostic imaging and endoscopy surveillance programs is often time-consuming, overwhelming, inconvenient, and anxiety-inducing. To improve this, multi-cancer early detection tests are being developed using cell-free DNA (cfDNA) sequencing analysis to detect cancers with more sensitivity than conventional screening methods. Our community (the CHARM consortium: Cell-free DNA in Hereditary And high-Risk Malignancies) has been exploring the use of cfDNA sequencing in hereditary cancer, and has launched the CHARM2 prospective randomized controlled trial, which is enrolling 1000 participants with Hereditary Breast and Ovarian Cancer, Lynch syndrome, Li-Fraumeni syndrome, Neurofibromatosis type 1 and Hereditary Diffuse Gastric Cancer to improve equitable access, early detection and surveillance for high-risk individuals. All participants will have screening as per conventional syndrome-specific surveillance recommendations. Half the participants (experimental cohort) will also have cfDNA analysis at least three times a year, with abnormal results triggering dedicated clinical imaging and diagnostic evaluation, and heightened surveillance. Vetted by our patient advisors, validated patient-reported outcome and experience measures assessing participant psychosocial outcomes, engagement, and test preferences will be administered to both arms. Our goal is to inform if and how cfDNA analysis could be implemented into routine clinical care and offer a path to equitable and more convenient cancer screening for all high-risk Canadians.

Female↗