UK Asian and Black patients experience longer cancer diagnostic intervals - the period between initial symptomatic presentation in primary care and cancer diagnosis.

To determine whether the differences in diagnostic intervals are because of prolonged primary care, referral, or secondary care interval.

A cohort study was undertaken of 70 971 patients with seven cancers (breast, lung, prostate, colorectal, oesophagogastric, myeloma, ovarian) diagnosed after symptom presentation in English primary care.

Data on symptom presentation and diagnosis were extracted from cancer registry-linked primary care and secondary care data. Primary interval was defined as the period between first primary care presentation and secondary care referral, referral interval as the period between referral and first secondary care appointment, and secondary care interval as the period between the first secondary care appointment and diagnosis. Accelerated failure time models were used to investigate ethnic differences across all four intervals.

Across all sites, the median diagnostic interval was 46 days, ranging from 13 days for breast cancer to 116 days for lung cancer. It was 14% longer for Black patients (adjusted time ratio [ATR] 1.14, 95% confidence interval [CI] = 1.05 to 1.25) and 13% longer for Asian patients (ATR 1.13, 95% CI = 1.03 to 1.23) compared with White patients. Site-specific analyses showed that, for myeloma, lung, prostate, and colorectal cancer, the secondary care interval was longer in Asian and Black patients, who also had a longer primary care interval in breast and colorectal cancer. There was little evidence of ethnic differences in referral interval.

This study found evidence of ethnic differences in diagnostic intervals, with prolonged secondary care intervals for four common cancers and prolonged primary care intervals for two. Although these differences are relatively modest, they are unjustified and may indicate shortcomings in healthcare delivery that disproportionately affect ethnic minorities.

Abnormal results in commonly used primary care blood tests could be early markers of cancer in patients presenting with non-specific abdominal symptoms.

Using linked data from the UK Clinical Practice Research Datalink (CPRD) and national cancer registry we compared blood test use and abnormal results from the 24-months pre-diagnosis in 10,575 cancer patients (any site), and 52,875 matched-controls aged ≥30 presenting, with abdominal pain or bloating to primary care.

Cancer patients had two-fold increased odds of having a blood test (odds ratio(OR):1.51-2.29) and 2-3-fold increased odds of having an abnormal blood test result (OR:2.42-3.30) in the year pre-diagnosis compared to controls. Raised inflammatory markers were the most common abnormality (74-79% of tested cases). Rates of blood test use and abnormal results progressively increased from 7 months pre-diagnosis in cancer patients, with relatively small corresponding increases in symptomatic controls. In cancer patients, the largest increases from baseline were raised platelets in males with abdominal pain (increased 33-fold), raised white blood cell count in males with abdominal bloating (increased 37-fold) and low albumin in females with either symptom (increased 22-41 fold).

Common blood test abnormalities are early signals of cancer in some individuals with non-specific abdominal symptoms and could support expedited cancer diagnosis.

Pediatric cancer mortality rates have steadily declined since 2009, but over a thousand deaths still occur annually. While existing research highlights the effects of race/ethnicity and rurality on overall survival, few studies have specifically analyzed these factors in relation to early mortality, defined as death within 12 months of diagnosis.

This study utilized SEER Research Plus Limited-Field Data (2000-2021) to examine the association between race/ethnicity, rurality, and early mortality in pediatric cancer patients. A cohort of 138,648 individuals was analyzed using Cox proportional hazards regression models to calculate hazard ratios and 95% confidence intervals (CIs).

The results demonstrated that both race/ethnicity and rurality were significantly associated with early mortality. Non-Hispanic Black patients were 70% (95% CI: 1.60-1.82) more likely to die within the first year of diagnosis compared to non-Hispanic Whites, and other racial/ethnic groups also saw significant associations. The adjusted hazard ratio for early mortality compared to urban counties greater than 1 million was significant (p < 0.05) for all degrees of rurality. Pediatric cancer patients in rural counties not adjacent to urban counties had the highest risk of early mortality, 27% (95% CI: 1.13-1.42), within 1 year of diagnosis. A subanalysis of adolescent patients also showed similar patterns.

These findings emphasize the need to address disparities in early mortality for pediatric cancer patients, particularly among racial/ethnic minorities and those in rural communities.

Lung cancer is frequently detected during visits to the emergency department (ED). The ED is crucial for identifying likely cases of lung cancer and coordinating the subsequent care for these patients.

This scoping review aims to explore the definitions of emergency presentations (EPs) of lung cancer, along with mortality rates, cancer stage, and treatments for patients diagnosed with lung cancer following an EP.

We conducted a scoping review of the literature on EPs of lung cancer, identifying 27 relevant articles out of 1338 initially screened.

Most studies originated from the United Kingdom, collectively reporting over 270,000 EPs of lung cancer. The majority of included studies provided strong evidence. Key findings revealed higher mortality rates among patients diagnosed with lung cancer through emergency presentations, with a significant proportion presenting at advanced stages. Patients with EPs were less likely to undergo surgical removal or receive radiotherapy. Lastly, only 66.7% of the studies defined an EP, with great heterogeneity among EP definitions. Methodological differences precluded meta-analysis.

Despite methodological heterogeneity, our synthesis indicates that patients presenting acutely with undiagnosed lung cancer often present at advanced stages and experience high mortality rates. These findings underscore the need for further research to develop evidence-based interventions for improving outcomes among ED patients with suspected lung cancer.

This study investigated healthcare utilisation in general practice and hospitals in the 2 years preceding a diagnosis of haematological cancer and the association with patient pathways.

The nationwide register-based cohort study included 12 994 patients diagnosed with leukaemia, multiple myeloma and lymphoma in 2014-2018 and 10 matched references. Patient pathways were analysed in unplanned routes (acute admission up to 1 month's prior diagnosis) and elective routes (other routes, e.g., cancer patient pathways).

Female patients in unplanned diagnostic pathways had more contacts to general practice from 19 months before the diagnosis compared to their matched references; with IRR increasing from 1.14 (95% confidence interval (CI) 1.05-1.24) to 2.27 (95% CI 2.13-2.41) at 30-60 days before the diagnosis. Female patients had more point-of-care tests, hospital contacts and radiological investigations at 17, 24 and 17 months, respectively, before diagnosis compared to their references. Similar patterns were seen for male patients, although with a later onset of increase. No healthcare use variations were seen between patients diagnosed in unplanned versus elective pathways.

Increased healthcare utilisation was seen in general practice and hospitals up to 24 months preceding a diagnosis, which may indicate a diagnostic window for detecting haematological cancer earlier.

Differences in the recording of cancer case status and diagnosis date have been observed between cancer registry (CR) - the reference standard - and electronic health records (EHRs); such differences may affect estimates of cancer risk or misclassify diagnostic pathways. This study aims to quantify differences in recording of case status and date of cancer diagnosis between cancer registry and EHRs.

Linked primary care (Clinical Practice Research Datalink (CPRD)), secondary care (Hospital Episode Statistics (HES)) and national Cancer Registry (CR) data, were used to identify 14,301 patients with a recorded diagnosis of brain, colon, lung, ovarian, or pancreatic cancer between 1999 and 2018. Agreement in case status between datasets, differences in recorded diagnosis dates, and change in agreement over time were investigated for each cancer site.

Between 84 % (ovary) to 92 % (colon) of diagnoses in cancer registry were also recorded in combined CPRD-HES data. Agreement with cancer registry was slightly lower in HES (78 % (ovary) to 86 % (colon)) and CPRD (61 % (ovary, pancreas) to 72 % (brain)). The proportion of CPRD-HES diagnoses confirmed in CR varied by cancer site (50 % (brain) to 86 % (lung)). Agreement between CR and HES was relatively stable within cancer sites over time. Concordance between CR and CPRD was more heterogeneous between cancer sites and over time. Best agreement in diagnosis date was observed between CR and HES (median difference 0 or 1 days, all cancer sites).

Agreement between CR and EHR data is heterogeneous across cancer sites. Concordance does not appear to have improved over time. Combined data from primary and secondary care may be sufficient to approximate case status in CR in some circumstances, but the date we consider to represent the diagnosis may impact study outcomes.

Studies of healthcare encounters leading to cancer diagnosis have increased over recent years. While some studies examine healthcare utilization before the cancer registry date of diagnosis, relevant pre-diagnosis interactions are not always immediately prior to this date due to date abstraction guidelines. We evaluated agreement of a registry date with a claims-based index and examined Emergency Department (ED) involvement in cancer diagnosis as an example of possible pre-diagnostic healthcare misclassification that could arise from improper date choice.

We implemented an algorithm to define a claims-based index as the date of the earliest International Classification of Diseases code for the cancer in Medicare and estimated agreement with the date of diagnosis from a North Carolina registry for patients diagnosed aged 66 or older with 16 cancer types from 2008 to 2017 (n = 92,056). We then classified whether each cancer was initially diagnosed through care originating in the ED using each date.

The index date was identical to the cancer registry date for 47% of patients and preceded the registry date for 28%, with extent of agreement varying by cancer- and patient-specific characteristics. Agreement in ED-involved diagnosis classification using each date varied by cancer site, with sensitivity of classifications using the registry date relative to the index having a minimum of 86% for prostate and kidney cancer.

Studies assessing healthcare utilization proximal to cancer diagnosis should carefully consider the relevant assessment window and be aware that the use of cancer registry versus claims-based dates may impact variable classification.

Studies in the USA examining the relationship between ethnicity and colorectal cancer (CRC) identified significant variation. This study sought to examine the relationship between ethnic group, route to diagnosis, early-onset CRC and stage at diagnosis in the English National Health Service.

Data from COloRECTal cancer data Repository for all individuals diagnosed with CRC (International Classification of Diseases version 10, C18-C20) between 2012 and 2017. A descriptive analysis of the characteristics of the study population was performed. Multivariable logistic regression models were used to assess the association between ethnicity, route to diagnosis, stage at diagnosis and early-onset CRC.

Early-onset CRC was least common in those in the white ethnic group (5.5% diagnosed <50, vs 17.9% in the Asian, 15.5% in the black and 21.8% in the mixed and multiple ethnic groups, p<0.01). Diagnosis following a 2-week wait referral was significantly less common among individuals from the Asian, black, other and unknown ethnic groups than the white ethnic group (Asian OR 0.84, 95% CI 0.79 to 0.91, black OR 0.86, 95% CI 0.79 to 0.93, other OR 0.81, 95% CI 0.73 to 0.90 and unknown OR 0.70, 95% CI 0.66 to 0.73). The Asian ethnic group had significantly lower odds of emergency diagnosis than the white ethnic group (OR 0.90, 95% CI 0.83 to 0.97). Following adjustment, individuals from the Asian ethnic group were significantly less likely, than their white counterparts, to be diagnosed at stage IV (OR 0.82, 95% CI 0.76 to 0.88).

This study identified different demographic profiles of those diagnosed with CRC between broad ethnic groups, highlighting the need to consider access to diagnostic CRC services in the context of ethnicity.

Missed and delayed cancer diagnoses are common, harmful, and often preventable. We previously validated a digital quality measure (dQM) of emergency presentation (EP) of lung cancer in 2 US health systems. This study aimed to apply the dQM to a new national electronic health record (EHR) database and examine demographic associations.

We applied the dQM (emergency encounter followed by new lung cancer diagnosis within 30 days) to Epic Cosmos, a deidentified database covering 184 million US patients. We examined dQM associations with sociodemographic factors.

The overall EP rate was 19.6%. EP rate was higher in Black vs White patients (24% vs 19%, P < .001) and patients with younger age, higher social vulnerability, lower-income ZIP code, and self-reported transport difficulties.

We successfully applied a dQM based on cancer EP to the largest US EHR database.

This dQM could be a marker for sociodemographic vulnerabilities in cancer diagnosis.

Colorectal cancer (CRC) diagnoses are frequently made through emergency presentations (EPs), a new cancer diagnosis following an emergency care episode or unplanned inpatient admission. The extent and implications of EPs are not well known in the Veterans Affairs (VA) health system, where robust CRC screening protocols exist. The impact of the COVID-19 pandemic on the route of CRC diagnosis also remains unclear.

We conducted a retrospective cohort study of all incident CRC cases diagnosed nationally in the VA health care system from 2017 to 2021. We applied a previously validated algorithm to identify CRC EPs and used multivariable logistic regression and Cox proportional hazards models to examine the associations between EPs and CRC stage, treatment, and mortality.

We identified 9,096 patients with CRC, 28.1% of whom had EPs, with the proportion of EPs increasing over the study period from 26.4% in 2017-2019 to 31.4% in 2020-2021. Patients with EPs were more likely to have advanced stage disease (adjusted OR 1.70; 95% CI 1.53-1.88) and less likely to receive cancer treatment (adjusted OR 0.65; 95% CI 0.56-0.75) than patients without EPs. Patients with EPs also had significantly higher mortality risk (adjusted HR 1.70; 95% CI 1.56-1.84).

In a large cohort of patients diagnosed with CRC, we found EPs to be common and independently associated with worse cancer outcomes. EPs also increased during the COVID-19 pandemic. Interventions are needed to reduce potentially avoidable EPs and improve outcomes of patients with CRC diagnosis.

Cancer is the leading cause of death in Canada, with diagnoses increasing annually. In Alberta, many cancer cases are detected in emergency departments, often at advanced stages. Despite the significant role of emergency departments in cancer diagnosis, limited research exists on the experiences of healthcare providers in this context. This qualitative study aimed to explore the perspectives of physicians and nurses working in emergency departments in Edmonton and Calgary regarding cancer diagnosis. Semi-structured interviews were conducted with 17 physicians and nurses, recruited through convenience and snowball sampling. Data collection continued until thematic saturation was reached. Interviews were analyzed thematically using an inductive, iterative process. Three main themes emerged: the acute care focus of the emergency department, its unsuitability for cancer diagnosis, and the need for systemic improvements to better support patients with suspected cancer. Participants highlighted challenges related to high patient volumes, the emotional burden of delivering cancer diagnoses, and barriers to effective communication and patient interaction in a fast-paced, high-pressure environment. The findings suggest the need for systemic reforms, including stronger primary care and improved care coordination, to alleviate pressure on emergency departments and enhance both patient outcomes and healthcare provider well-being.

Little is known about how patients are managed after a suspected cancer diagnosis through the emergency department. The objective of this study was to examine the ED management, specifically referral practices, for ten suspected cancer diagnoses by emergency physicians across Ontario and to explore variability in management by cancer-type and centre.

An electronic survey was distributed to emergency physicians across Ontario, asking about referral practices for patients who could be discharged from the ED with one of ten suspected cancer diagnoses. Options for referral included: in-ED consult, outpatient medical or surgical specialists, surgical or medical oncology, and specialized cancer clinics. Data were described using frequencies and proportions. Variance partition coefficients were calculated to determine variation in responses attributed to differences between hospitals, with physicians nested within hospitals.

262 physicians from 54 EDs responded. Across most cancers, emergency physicians would refer to surgical specialists for further work-up; however, this ranged from 30.2% for lung cancer to 69.5% for head and neck cancer. For patients with an unknown primary malignancy, most physicians would refer to internal medicine clinic (34.3%) or obtain an in-ED consult (25.0%). Few physicians would refer directly to surgical or medical oncology from the ED. Comments suggest this may be due to oncologists requiring tissue confirmation of malignancy. Most referrals to specialized clinics were for suspected lung (30.2%) or breast cancer (19.5%); however, these appear to only be available at some centres. Variance in referrals between hospitals was lowest for breast cancer (variance partition coefficient = 8.6%) and highest for unknown primary malignancies (variance partition coefficient = 29.8%).

Physician management of new suspected cancer varies between EDs and is specific to cancer type. Strategies to standardize access to cancer care in a timely and equitable way for patients with newly suspected cancer in the ED are needed.

Although suspicions of cancer may be raised in patients who visit the emergency department, little is known about emergency department use before a cancer diagnosis. We sought to describe emergency department use among patients in Ontario within the 90 days before confirmed cancer diagnosis and to evaluate factors associated with this emergency department use.

We conducted a retrospective, population-based study of patients aged 18 years or older who had a confirmed cancer diagnosis in Ontario from 2014 to 2021 using linked administrative databases. The primary outcome was any emergency department visit within 90 days before the cancer diagnosis date. We used multivariable logistic regression to evaluate factors associated with emergency department use, such as demographics (e.g., age, sex, rurality, Ontario Health region, indicators of marginalization), comorbidities, previous emergency department visits and hospital admissions, continuity of primary care, type of cancer, and year of cancer diagnosis.

We included 651 071 patients with cancer. Of these, 229 683 (35.3%) had an emergency department visit within 90 days before diagnosis, 51.4% of whom were admitted to hospital from the emergency department. Factors associated with increased odds of emergency department use before cancer diagnosis included rurality (odds ratio [OR] 1.15, 95% confidence interval [CI] 1.13-1.17), residence in northern Ontario (North East region OR 1.14, 95% CI 1.10-1.17 and North West region OR 1.27, 95% CI 1.21-1.32, v. Toronto region), and living in the most marginalized areas (material resources OR 1.37, 95% CI 1.35-1.40 and housing OR 1.09, 95% CI 1.06-1.11, v. least marginalized quintile). We observed significant variation in emergency department use by cancer type, with high odds of emergency department use among patients with intracranial, pancreatic, liver or gallbladder, or thoracic cancer.

Emergency department use is common before cancer diagnosis, with about one-third of patients with cancer in Ontario using the emergency department before diagnosis. Understanding why patients visit the emergency department before cancer diagnosis is important, particularly for patients who live in rural or marginalized areas, or those who have specific cancer types.

Early diagnosis of serious spinal pathology is the key to optimise patient outcomes, yet early diagnosis can be adversely affected by health inequalities. In this paper we consider the impact of health inequalities on the incidence and outcome for serious spinal musculoskeletal (MSK) pathologies. Health inequalities can be experienced by people grouped around a range of factors. These include socio-economic factors, the environmental conditions in which people live, protected characteristics such as ethnicity, and socially excluded groups such as people who are homeless. These factors can affect people's exposure to health risks and their opportunities to lead healthy lives. A person's behaviour is a key determinant of their health status. 'Risky' health behaviours include smoking, poor diet, harmful alcohol consumption and lack of exercise, and are more common in these groups. Importantly, socio-economic factors combined with health behaviours influence the health inequalities a person may experience. The most significant social and economic factors influencing poor MSK health are poverty, education, employment, environment, and food ethos. These determinants of health not only predispose people living in deprivation to having benign MSK conditions at a younger age and with worse outcomes, they are also risk factors of more serious MSK pathologies.

Neoadjuvant therapy followed by radical surgery is standard for locally advanced rectal cancer (LARC). However, compared to younger patients, elderly patients often had multiple commodities and may refuse surgery due to being medically unfit or the high risk of operative mortality. This study aims to explore the effects of surgery on short- and long-term mortality in elderly LARC patients using a nationwide cancer registry. The cohort included 6211 patients aged over 65, with 2556 matched through propensity scoring for comparison between surgery (N = 1704) and non-surgery (N = 852) groups. The Cox proportional hazard model compared mortality between these groups. Our results showed that the elderly LARC patients who underwent surgery were more likely to be younger (65-75 years), have clinically-positive lymph nodes, and no comorbidities. Surgery was associated with significantly lower 3-month, 6-month, and 5-year mortality rates, with a greater absolute survival benefit (adjusted hazard ratio [aHR], 4.78; 95% CI, 2.71-8.43; aHR, 4.50; 95% CI, 3.07-6.58 and aHR, 3.81; 95% CI, 3.21-4.51). In stratified analysis, surgery remains provide significantly survival benefit according different age, gender and clinical classification. Furthermore, among non-surgical patients, those receiving chemoradiation had better survival outcomes compared to those receiving radiation, chemotherapy, or no treatment (all P < 0.001). This study highlights the survival advantage of surgery in elderly LARC patients and offers valuable guidance for clinical decision-making.

This literature review discusses current health disparities in cancer care in the United Kingdom, spanning access to services, diagnosis, and outcomes. These inequities stem from a complex interplay of factors such as health literacy, ethnicity, socioeconomic status, age, gender, geography, and lifestyle choices. Health literacy plays a crucial role in timely healthcare seeking and diagnosis, while cultural beliefs significantly shape perceptions and behaviours. Socioeconomic barriers often result in delayed diagnosis and inferior outcomes due to limited access to preventive measures and high-quality treatment. Barriers to timely diagnosis include non-specific symptoms, variations in diagnostic intervals influenced by age and gender, and non-attendance at secondary care appointments. Addressing these challenges necessitates initiatives aimed at improving health literacy, implementing culturally sensitive screening approaches, and enhancing accessibility to both primary and secondary care services.

To reduce mortality, the Taiwan government has vigorously promoted free cancer screening and preventive health screening services. Cancers are usually advanced by the time they are discovered in the emergency department. Through this study, we aimed to understand the characteristics of cancer patients diagnosed through the emergency department and thus identify high-risk populations by comparing cancer staging and survival rates in patients diagnosed in the emergency department and those diagnosed in the non-emergency department.

The retrospective study enrolled a total of 389,043 patients over the age of 20 who were newly diagnosed with one of the five major cancers (including lung cancer, colorectal cancer, breast cancer, prostate cancer, and oral cancer) between 2008 and 2017 and analyzed their diagnostic pathway, cancer stage at diagnosis, and survival time.

Of the study participants, 59,423 patients (about 15.3%) were diagnosed with cancer through the emergency department. We found that a sizable proportion of older people and patients with low education and low incomes were diagnosed through emergency department visits, and those with a health condition comorbidity severity of 3 had the highest proportion diagnosed by the emergency department, advanced stages at diagnosis, and risk of death. These can be classified as high-risk groups. In addition, 76.4% of patients diagnosed in the emergency department had advanced cancer, and the risk of death was 1.46 times higher than that of patients diagnosed in the non-emergency department. Although cancer screening is available, it does not reduce the proportion of patients with advanced cancer who are diagnosed through or at the time of diagnosis in the emergency department.

The present study found that the government's cancer screening did not affect the proportion or number of cancers diagnosed through emergency department visits. Therefore, the government should focus on more cancer screening, health education in high-risk groups, and strengthening the link between emergency and oncology departments to reduce the risk of death for patients diagnosed through emergency department visits.

Multiple myeloma often presents with vague and non-specific symptoms. Many patients are diagnosed in unplanned rather than elective (planned) diagnostic pathways. This study investigates the diagnosis of multiple myeloma in unplanned pathways and the association with patient characteristics, disease profile, and survival.

We conducted a nationwide register-based study, including all patients diagnosed with multiple myeloma in Denmark in 2014-2018. Patients were categorised as diagnosed in an unplanned pathway if registered with an acute admission within 30 days prior to the multiple myeloma diagnosis and no other previously registered pathway to this diagnosis. Unplanned pathways were compared to all other pathways combined.

We included 2,213 patients diagnosed with multiple myeloma, hereof 32% diagnosed in an unplanned pathway. Comorbidity, no prior cancer diagnosis, a history of few visits to the general practitioner (GP), multiple myeloma complications at diagnosis, high-risk cytogenetics, and advanced cancer stage were associated with a higher probability of being diagnosed in an unplanned pathway. For example, 24.4% (95% confidence interval (CI): 21.8-27.0) of patients with low comorbidity (Charlson Comorbidity Index (CCI) score 0) were diagnosed in an unplanned pathway as were 50.9% (95% CI: 45.6-56.1) of patients with high comorbidity (CCI score 3+). For patients with dialysis need at the time of diagnosis the probability was 66.0% (95% CI 54.2-77.8) and 30.9% (95% CI: 28.9-32.9) for patients with no dialysis need. Patients diagnosed in an unplanned pathway had inferior survival (hazard ratio 1.44 (95% CI: 1.26-1.64)). However, this association was not seen in analyses restricted to patients surviving for more than three years.

High comorbidity level, few usual GP visits, advanced disease status at diagnosis, and complications were associated with diagnosis in an unplanned pathway. Further, patients diagnosed in an unplanned pathway had inferior survival. Promoting earlier diagnosis and preventing unplanned pathways may help improve survival in multiple myeloma.

Fluoropyrimidine chemotherapy is a first-line treatment for many gastrointestinal (GI) cancers, however, cardiotoxicity concerns may limit administration in patients with pre-existing cardiovascular disease (CVD). This study investigated the association of pre-existing CVD with use of fluoropyrimidine chemotherapy in tumour-eligible GI cancer patients.

National cancer registry data from the Virtual Cardio-Oncology Research Initiative from England between 2014 and 2018 was used to identify GI cancer patients eligible to receive fluoropyrimidine chemotherapy. Linkage to Hospital Episode Statistics and CVD registry data were used to ascertain prior CVD and outcomes. Primary outcome was first administration of fluoropyrimidine chemotherapy following cancer diagnosis. Cox proportional hazard models determined HR and 95% CIs for the association between initiation of fluoropyrimidine treatment and prior CVD.

112 726 eligible patients were identified (median age 71 years (IQR 62-80), 39.7% female). 33 026 (29.3%) had pre-existing CVD. 73 392 (65.1%) patients had a diagnosis of colorectal, 23 208 (20.6%) oesophageal, 14 788 (13.1%) gastric and 1338 (1.2%) small bowel cancer. Individuals with pre-existing CVD had a 27% reduced rate of receiving fluoropyrimidine chemotherapy (HR, 0.73; 95% CI 0.70 to 0.75) on multivariable analysis. Significantly reduced rates of fluoropyrimidine administration were found across all subtypes of pre-existing CVD.

GI cancer patients with all types of pre-existing CVD are less likely to receive fluoropyrimidine chemotherapy despite eligibility. This suggests widespread caution regarding administration of fluoropyrimidines across this population; further research is needed to assess whether such conservatism is justified.

Individuals diagnosed with cancer via emergency admission are likely to have poor outcomes. This study aims to identify cancer diagnosed through an emergency hospital admission and examine predictors associated with mortality within 12-months.

A population-based retrospective 1:1 propensity-matched case-comparison study of people who had an emergency versus a planned hospital admission with a principal diagnosis of cancer during 2013-2020 in New South Wales, Australia using linked hospital, cancer registry and mortality records. Conditional logistic regression examined predictors of mortality at 12-months.

There were 28,502 matched case-comparisons. Individuals who had an emergency admission were four times more likely to die within 12-months (Odds Ratio (OR) 3.93; 95 % confidence interval (CI) 3.75-4.13) compared to individuals who had a planned admission for cancer. Older individuals, diagnosed with lung (OR 1.89; 95 %CI 1.36-2.63) or digestive organ, excluding colorectal (OR1.78; 95 %CI 1.30-2.43) cancers, where the degree of spread was metastatic (OR 3.61; 95 %CI 2.62-4.50), who had a mental disorder diagnosis (OR 2.08; 95 %CI 1.89-2.30), lived in rural (OR 1.27; 95 %CI 1.17-1.37) or more disadvantaged neighbourhoods had a higher likelihood of death within 12-months following an unplanned admission compared to referent groups. Females (OR 0.87; 95 %CI 0.81-0.93) had an 13 % lower likelihood of mortality within 12-months compared to males.

While some emergency cancer admissions are not avoidable, the importance of preventive screening and promotion of help-seeking for early cancer symptoms should not be overlooked as mechanisms to reduce emergency admissions related to cancer and to improve cancer survival.

In this Policy Review we discuss ten key pressure points in the NHS in the delivery of cancer care services that need to be urgently addressed by a comprehensive national cancer control plan. These pressure points cover areas such as increasing workforce capacity and its productivity, delivering effective cancer survivorship services, addressing variation in quality, fixing the reimbursement system for cancer care, and balancing of the cancer research agenda. These areas have been selected based on their relative importance to ensuring sustainable cancer services, persistence as key issues in the NHS, and their impact on delivering better and more equitable and affordable patient outcomes. Many of these pressure points are not acknowledged explicitly in any current discourse. The evidence we provide points to their impact on the ability to deliver world class cancer care, but also to their amenability to affordable solutions if given the relevant prioritisation and investment. The current narrative needs to move away from a technocentric approach to improving care, to one focused on understanding the complexity of cancer services and the wider health system to drive improvements in survival, quality of life, and experience for patients.

Missed and delayed cancer diagnoses are common, harmful, and often preventable. Automated measures of quality of cancer diagnosis are lacking but could identify gaps and guide interventions. We developed and implemented a digital quality measure (dQM) of cancer emergency presentation (EP) using electronic health record databases of two health systems and characterized the measure's association with missed opportunities for diagnosis (MODs) and mortality.

On the basis of literature and expert input, we defined EP as a new cancer diagnosis within 30 days after emergency department or inpatient visit. We identified EPs for lung cancer and colorectal cancer (CRC) in the Department of Veterans Affairs (VA) and Geisinger from 2016 to 2020. We validated measure accuracy and identified preceding MODs through standardized chart review of 100 records per cancer per health system. Using VA's longitudinal encounter and mortality data, we applied logistic regression to assess EP's association with 1-year mortality, adjusting for cancer stage and demographics.

Among 38,565 and 2,914 patients with lung cancer and 14,674 and 1,649 patients with CRCs at VA and Geisinger, respectively, our dQM identified EPs in 20.9% and 9.4% of lung cancers, and 22.4% and 7.5% of CRCs. Chart reviews revealed high positive predictive values for EPs across sites and cancer types (72%-90%), and a substantial percent represented MODs (48.8%-84.9%). EP was associated with significantly higher odds of 1-year mortality for lung cancer and CRC (adjusted odds ratio, 1.78 and 1.83, respectively, 95% CI, 1.63 to 1.86 and 1.61 to 2.07).

A dQM for cancer EP was strongly associated with both mortality and MODs. The findings suggest a promising automated approach to measuring quality of cancer diagnosis in US health systems.

The symptoms with which a patient with cancer presents and the route taken to diagnosis (emergency v nonemergency) may affect the speed with which the diagnosis of cancer is made, thereby affecting outcomes. We examined time to diagnosis by symptom for cancers diagnosed through emergency and nonemergency routes (NERs).

We performed a retrospective review of patients diagnosed with 10 solid cancers at Hospital Clínic of Barcelona between March 2013 and June 2023. Cancers were diagnosed through emergency presentation and admission (inpatient emergency route [IER]), emergency presentation and outpatient referral (outpatient emergency route [OER]), and primary care presentation and outpatient referral (NER). We assessed the effect of diagnostic routes on intervals to diagnosis for 19 cancer symptoms.

A total of 5,174 and 1,607 patients were diagnosed with cancer through emergency routes and NERs, respectively. Over 85% of patients presenting with alarm (localizing) symptoms such as hematuria through emergency routes were diagnosed with the expected cancer, whereas those with nonlocalizing symptoms such as abdominal pain had a more heterogeneous cancer-site composition. Median intervals were shorter for alarm than nonlocalizing symptoms and tended to be shorter in IERs than OERs. However, for most symptoms, intervals in both routes were invariably shorter than in the NER. For example, diagnostic intervals for hematuria and abdominal pain were 3 and 5 days shorter in IERs than OERs, but they were 5-8 and 17-22 days shorter than in the NER, respectively.

For patients with alarm symptoms, intervals were shorter than for those with nonlocalizing symptoms and, for most symptoms, intervals were shorter when patients were evaluated by emergency routes rather than NERs.

Identifying patients presenting with nonspecific abdominal symptoms who have underlying cancer is a challenge. Common blood tests are widely used to investigate these symptoms in primary care, but their predictive value for detecting cancer in this context is unknown. We quantify the predictive value of 19 abnormal blood test results for detecting underlying cancer in patients presenting with 2 nonspecific abdominal symptoms.

Using data from the UK Clinical Practice Research Datalink (CPRD) linked to the National Cancer Registry, Hospital Episode Statistics and Index of Multiple Deprivation, we conducted a population-based cohort study of patients aged ≥30 presenting to English general practice with abdominal pain or bloating between January 2007 and October 2016. Positive and negative predictive values (PPV and NPV), sensitivity, and specificity for cancer diagnosis (overall and by cancer site) were calculated for 19 abnormal blood test results co-occurring in primary care within 3 months of abdominal pain or bloating presentations. A total of 9,427/425,549 (2.2%) patients with abdominal pain and 1,148/52,321 (2.2%) with abdominal bloating were diagnosed with cancer within 12 months post-presentation. For both symptoms, in both males and females aged ≥60, the PPV for cancer exceeded the 3% risk threshold used by the UK National Institute for Health and Care Excellence for recommending urgent specialist cancer referral. Concurrent blood tests were performed in two thirds of all patients (64% with abdominal pain and 70% with bloating). In patients aged 30 to 59, several blood abnormalities updated a patient's cancer risk to above the 3% threshold: For example, in females aged 50 to 59 with abdominal bloating, pre-blood test cancer risk of 1.6% increased to: 10% with raised ferritin, 9% with low albumin, 8% with raised platelets, 6% with raised inflammatory markers, and 4% with anaemia. Compared to risk assessment solely based on presenting symptom, age and sex, for every 1,000 patients with abdominal bloating, assessment incorporating information from blood test results would result in 63 additional urgent suspected cancer referrals and would identify 3 extra cancer patients through this route (a 16% relative increase in cancer diagnosis yield). Study limitations include reliance on completeness of coding of symptoms in primary care records and possible variation in PPVs if extrapolated to healthcare settings with higher or lower rates of blood test use.

In patients consulting with nonspecific abdominal symptoms, the assessment of cancer risk based on symptoms, age and sex alone can be substantially enhanced by considering additional information from common blood test results. Male and female patients aged ≥60 presenting to primary care with abdominal pain or bloating warrant consideration for urgent cancer referral or investigation. Further cancer assessment should also be considered in patients aged 30 to 59 with concurrent blood test abnormalities. This approach can detect additional patients with underlying cancer through expedited referral routes and can guide decisions on specialist referrals and investigation strategies for different cancer sites.

Background: Prior studies reveal a lack of illness understanding and prognostic awareness among patients with hematological malignancies. We evaluated prognostic awareness and illness understanding among patients with acute leukemia and multiple myeloma (MM) and measured patient-hematologist discordance. Methods: We prospectively enrolled patients with acute leukemia and MM at Mount Sinai Hospital or Yale New Haven Hospital between August 2015 and February 2020. Patients were administered a survey assessing prognostic awareness, goals of care (GOC), and quality of life. Hematologists completed a similar survey for each patient. We assessed discordance across the cohort of patients and hematologists using the likelihood-ratio chi-square test and within patient-hematologist pairs using the kappa (κ) statistic. Results: We enrolled 185 patients (137 with leukemia and 48 with MM) and 29 hematologists. Among patients, 137 (74%) self-identified as White, 27 (15%) as Black, and 21 (11%) as Hispanic. Across the entire cohort, patients were significantly more optimistic about treatment goals compared with hematologists (p = 0.027). Within patient-hematologist pairs, hematologists were significantly more optimistic than patients with respect to line of treatment (κ = 0.03). For both leukemia and MM cohorts, patients were significantly more likely to respond "don't know" or deferring to a faith-based response with 88 (64%) and 34 (71%), respectively, compared with only 28 (20%) and 11 (23%) of hematologists, respectively. Conclusions: We observed significant discordance regarding prognosis and GOC among patients with hematological malignancies and their hematologists. These data support future interventions to improve prognostic understanding among this patient population to facilitate informed treatment choices.

To determine associations of incident cancer diagnoses in women with recent emergency department (ED) care.

A retrospective cohort study analyzing biological females aged 18 years and older, who were diagnosed with an incident primary cancer (12 cancer types studied) from January 1, 2015, to December 31, 2021, from electronic health records. The primary outcome was a cancer diagnosis within 6 months of a preceding ED visit. Secondary outcomes included patient factors associated with a preceding ED visit.

Of 25,736 patients (median age of 62 years, range 18-101) diagnosed with an incident primary cancer, 1938 (7.5%) had an ED visit ≤6 months before a diagnosis. The ED-associated cancer cases were highest in lung cancer (n=514, 14.7%) followed by acute lymphoblastic leukemia (n=22, 13.3%). Patient factors increasing the likelihood of ED evaluation before diagnosis included 18-50 years of age (OR=1.32; 95% CI, 1.09-1.61), Elixhauser score (measure of comorbidities) >4 (OR=17.90; 95% CI, 14.21-22.76), use of Medicaid or other government insurance (OR=2.10; 95% CI, 1.63-2.69), residence within the institutional catchment areas (OR=3.18; 95% CI, 2.78-3.66), non-Hispanic Black race/ethnicity (OR=1.41; 95% CI, 1.04-1.88), and established primary care provider at Mayo Clinic (OR=1.45; 95% CI, 1.28-1.65). The ED visits were more likely in those who died within 6 months of diagnosis (n=327, 37.8%) than those who did not die (n=1611, 6.5%).

Patient characteristics identified in this study offer opportunities to provide cancer risk assessment and health navigation, particularly among individuals with comorbidities and limited health care access.

More deprived cancer patients are at higher risk of Emergency Presentation (EP) with most studies pointing to lower symptom awareness and increased comorbidities to explain those patterns. With the example of colon cancer, we examine patterns of hospital emergency admissions (HEAs) history in the most and least deprived patients as a potential precursor of EP.

We analysed the rates of hospital admissions and their admission codes (retrieved from Hospital Episode Statistics) in the two years preceding cancer diagnosis by sex, deprivation and route to diagnosis (EP, non-EP). To select the conditions (grouped admission codes) that best predict emergency admission, we adapted the purposeful variable selection to mixed-effects logistic regression.

Colon cancer patients diagnosed through EP had the highest number of HEAs than all the other routes to diagnosis, especially in the last 7 months before diagnosis. Most deprived patients had an overall higher rate and higher probability of HEA but fewer conditions associated with it.

Our findings point to higher use of emergency services for non-specific symptoms and conditions in the most deprived patients, preceding colon cancer diagnosis. Health system barriers may be a shared factor of socio-economic inequalities in EP and HEAs.

Hepatocellular carcinoma (HCC) incidence has increased rapidly, and prognosis remains poor. We aimed to explore predictors of routes to diagnosis (RtD), and outcomes, in HCC cases.

HCC cases diagnosed 2006-2017 were identified from the National Cancer Registration Dataset and linked to Hospital Episode Statistics and the RtD metric. Multivariable logistic regression was used to explore associations between RtD, diagnosis year, 365-day mortality and receipt of potentially curative treatment.

23,555 HCC cases were identified; 36.1% via emergency presentation (EP), 30.2% GP referral (GP), 17.1% outpatient referral, 11.0% two-week wait and 4.6% other/unknown routes. Odds of 365-day mortality was >70% lower via GP or OP routes than EP, and odds of curative treatment 3-4 times higher. Further adjustment for cancer/cirrhosis stage attenuated the associations with curative treatment. People who were older, female, had alcohol-related liver disease, or were more deprived, were at increased risk of an EP. Over time, diagnoses via EP decreased, and via GP increased.

HCC RtD is an important predictor of outcomes. Continuing to reduce EP and increase GP and OP presentations, for example by identifying and regularly monitoring patients at higher risk of HCC, may improve stage at diagnosis and survival.

This viewpoint paper considers the authors' perspectives on the potential role of smartphones, wearables, and other technologies in the diagnosis of cancer. We believe that these technologies could be valuable additions in the pursuit of early cancer diagnosis, as they offer solutions to the timely detection of signals or symptoms and monitoring of subtle changes in behavior that may otherwise be missed. In addition to signal detection, technologies could assist symptom interpretation and guide and facilitate access to health care. This paper aims to provide an overview of the scientific rationale as to why these technologies could be valuable for early cancer detection, as well as outline the next steps for research and development to drive investigation into the potential for smartphones and wearables in this context and optimize implementation. We draw attention to potential barriers to successful implementation, including the difficulty of the development of signals and sensors with sufficient utility and accuracy through robust research with the target group. There are regulatory challenges; the potential for innovations to exacerbate inequalities; and questions surrounding acceptability, uptake, and correct use by the intended target group and health care practitioners. Finally, there is potential for unintended consequences on individuals and health care services including unnecessary anxiety, increased symptom burden, overinvestigation, and inappropriate use of health care resources.

The growing and ageing prison population in England makes accurate cancer data of increasing importance for prison health policies. This study aimed to compare cancer incidence, treatment, and survival between patients diagnosed in prison and the general population.

In this population-based, matched cohort study, we used cancer registration data from the National Cancer Registration and Analysis Service in England to identify primary invasive cancers and cervical cancers in situ diagnosed in adults (aged ≥18 years) in the prison and general populations between Jan 1, 1998, and Dec 31, 2017. Ministry of Justice and Office for National Statistics population data for England were used to calculate age-standardised incidence rates (ASIR) per year and age-standardised incidence rate ratios (ASIRR) for the 20-year period. Patients diagnosed with primary invasive cancers (ie, excluding cervical cancers in situ) in prison between Jan 1, 2012, and Dec 31, 2017 were matched to individuals from the general population and linked to hospital and treatment datasets. Matching was done in a 1:5 ratio according to 5-year age group, gender, diagnosis year, cancer site, and disease stage. Our primary objectives were to compare the incidence of cancer (1998-2017); the receipt of treatment with curative intent (2012-17 matched cohort), using logistic regression adjusted for matching variables (excluding cancer site) and route to diagnosis; and overall survival following cancer diagnosis (2012-17 matched cohort), using a Cox proportional hazards model adjusted for matching variables (excluding cancer site) and route to diagnosis, with stratification for the receipt of any treatment with curative intent.

We identified 2015 incident cancers among 1964 adults (1556 [77·2%] men and 459 [22·8%] women) in English prisons in the 20-year period up to Dec 31, 2017. The ASIR for cancer for men in prison was initially lower than for men in the general population (in 1998, ASIR 119·33 per 100 000 person-years [95% CI 48·59-219·16] vs 746·97 per 100 000 person-years [742·31-751·66]), but increased to a similar level towards the end of the study period (in 2017, 856·85 per 100 000 person-years [675·12-1060·44] vs 788·59 per 100 000 person-years [784·62-792·57]). For women, the invasive cancer incidence rate was low and so ASIR was not reported for this group. Over the 20-year period, the incidence of invasive cancer for men in prison increased (incidence rate ratio per year, 1·05 [95% CI 1·04-1·06], during 1999-2017 compared with 1998). ASIRRs showed that over the 20-year period, overall cancer incidence was lower in men in prison than in men in the general population (ASIRR 0·76 [95% CI 0·73-0·80]). The difference was not statistically significant for women (ASIRR 0·83 [0·68-1·00]). Between Jan 1, 2012, and Dec 31, 2017, patients diagnosed in prison were less likely to undergo curative treatment than matched patients in the general population (274 [32·3%] of 847 patients vs 1728 [41·5%] of 4165; adjusted odds ratio (OR) 0·72 [95% CI 0·60-0·85]). Being diagnosed in prison was associated with a significantly increased risk of death on adjustment for matching variables (347 deaths during 2021·9 person-years in the prison cohort vs 1626 deaths during 10 944·2 person-years in the general population; adjusted HR 1·16 [95% CI 1·03-1·30]); this association was partly explained by stratification by curative treatment and further adjustment for diagnosis route (adjusted HR 1·05 [0·93-1·18]).

Cancer incidence increased in people in prisons in England between 1998 and 2017, with patients in prison less likely to receive curative treatments and having lower overall survival than the general population. The association with survival was partly explained by accounting for differences in receipt of curative treatment and adjustment for diagnosis route. Improved routine cancer surveillance is needed to inform prison cancer policies and decrease inequalities for this under-researched population.

UK National Institute for Health and Care Research, King's College London, and Strategic Priorities Fund 2019/20 of Research England via the University of Surrey.

Wilms tumor (WT) is the most common childhood kidney cancer. It is a rapid growing embryonal tumor in young children and can be diagnosed with and without tumor related symptoms.

We retrospectively analyzed the route to diagnosis of WT treated prospectively according to the SIOP 93-01/GPOH and 2001/GPOH in Germany between 1993 and 2022. Four routes were defined: diagnosis due to tumor-related symptoms, incidental diagnosis during another disease, diagnosis by preventive examinations, and diagnosis within a surveillance program. For these groups we compared clinical and tumor characteristics and outcome.

Of 2549 patients with WT 1822 (71.5%) were diagnosed by tumor-related symptoms, 472 (18.5%) incidentally, 213 (8.4%) by preventive medical examinations, and 42 (1.6%) by surveillance. Age, general health status, tumor volume, and local and overall stage varied significantly between these groups. The youngest patients were those diagnosed by preventive medical examination (mean: 1.70 years). These patients also showed the best general health status. Tumor volume at diagnosis (549 mL) and after preoperative chemotherapy (255 mL) was significantly higher for children with tumor-related symptoms. The highest percentage of local stage I (78.6%) and the lowest percentage of metastatic disease (4.8%) was found in the surveillance group. The outcome of patients was not significantly different, with up to 19.0% relapses in the surveillance group and 3.0% deaths in the group with tumor-related symptoms.

The route to diagnosis of WT correlates with age, general health status, tumor volume, and stage distribution, but does not impact the outcome of patients. Nonetheless, diagnosis without tumor related symptoms results in lower treatment burden and thus improved quality of life.

Internationally, 20% to 50% of cancer is diagnosed through emergency presentation, which is associated with lower survival, poor patient experience, and socioeconomic disparities, but population-based evidence about emergency diagnosis in the United States is limited. We estimated emergency department (ED) involvement in the diagnosis of cancer in a nationally representative population of older US adults, and its association with sociodemographic, clinical, and tumor characteristics.

We analyzed Surveillance, Epidemiology, and End Results Program-Medicare data for Medicare beneficiaries (≥66 years old) with a diagnosis of female breast, colorectal, lung, and prostate cancers (2008-2017), defining their earliest cancer-related claim as their index date, and patients who visited the ED 0 to 30 days before their index date to have "ED involvement" in their diagnosis, with stratification as 0 to 7 or 8 to 30 days. We estimated covariate-adjusted associations of patient age, sex, race and ethnicity, marital status, comorbidity score, tumor stage, year of diagnosis, rurality, and census-tract poverty with ED involvement using modified Poisson regression.

Among 614 748 patients, 23% had ED involvement, with 18% visiting the ED in the 0 to 7 days before their index date. This rate varied greatly by tumor site, with breast cancer at 8%, colorectal cancer at 39%, lung cancer at 40%, and prostate cancer at 7%. In adjusted models, older age, female sex, non-Hispanic Black and Native Hawaiian or Other Pacific Islander race, being unmarried, recent year of diagnosis, later-stage disease, comorbidities, and poverty were associated with ED involvement.

The ED may be involved in the initial identification of cancer for 1 in 5 patients. Earlier, system-level identification of cancer in non-ED settings should be prioritized, especially among underserved populations.

In 2015, a groundswell of brain tumour patient, carer and charity activism compelled the UK Minister for Life Sciences to form a brain tumour research task and finish group. This resulted, in 2018, with the UK government pledging £20m of funding, to be paralleled with £25m from Cancer Research UK, specifically for neuro-oncology research over the subsequent 5 years. Herein, we review if and how the adult brain tumour research landscape in the United Kingdom has changed over that time and what challenges and bottlenecks remain. We have identified seven universal brain tumour research priorities and three cross-cutting themes, which span the research spectrum from bench to bedside and back again. We discuss the status, challenges and recommendations for each one, specific to the United Kingdom.

The objective was to map the experiences and needs of patients presenting with symptoms of suspected cancer in the primary care interval (from when they first present to primary care to their first appointment or referral to a secondary or tertiary level healthcare facility).

This was a scoping review.

Studies or reports written in English which included primary data on the primary care interval experiences and/or needs of adult patients presenting with new symptoms of suspected cancer were eligible. Studies which only included patients with secondary or recurring cancer, conference abstracts and reviews were excluded. No date limits were applied.

The Joanna Briggs Institute method for Scoping Reviews guided screening, report selection and data extraction. At least two independent reviewers contributed to each stage. Medline, CINAHL, PsychInfo, Embase and Web of Science were searched and several grey literature resources. Relevant quantitative findings were qualitised and integrated with qualitative findings. A thematic analysis was carried out.

Of the 4855 records identified in the database search, 18 were included in the review, along with 13 identified from other sources. The 31 included studies were published between 2002 and 2023 and most (n=17) were conducted in the UK. Twenty subthemes across four themes (patient experience, interpersonal, healthcare professional (HCP) skills, organisational) were identified. No studies included patient-reported outcome measures. Patients wanted (1) to feel heard and understood by HCPs, (2) a plan to establish what was causing their symptoms, and (3) information about the next stages of the diagnostic process.

Scoping review findings can contribute to service planning as the cancer diagnostic pathway for symptomatic presentation of cancer evolves. The effectiveness of this pathway should be evaluated not only in terms of clinical outcomes, but also patient-reported outcomes and experience, along with the perspectives of primary care HCPs.

Colorectal cancer (CRC) is a global health concern, with advanced-stage diagnoses contributing to poor prognoses. The efficacy of CRC screening has been well-established; nevertheless, a significant proportion of patients remain unscreened, with > 70% of cases diagnosed outside screening. Although identifying specific subgroups for whom CRC screening should be particularly recommended is crucial owing to limited resources, the association between the diagnostic routes and identification of these subgroups has been less appreciated. In the Japanese cancer registry, the diagnostic routes for groups discovered outside of screening are primarily categorized into those with comorbidities found during hospital visits and those with CRC-related symptoms.

To clarify the stage at CRC diagnosis based on diagnostic routes.

We conducted a retrospective observational study using a cancer registry of patients with CRC between January 2016 and December 2019 at two hospitals. The diagnostic routes were primarily classified into three groups: Cancer screening, follow-up, and symptomatic. The early-stage was defined as Stages 0 or I. Multivariate and univariate logistic regressions were exploited to determine the odds of early-stage diagnosis in the symptomatic and cancer screening groups, referencing the follow-up group. The adjusted covariates were age, sex, and tumor location.

Of the 2083 patients, 715 (34.4%), 1064 (51.1%), and 304 (14.6%) belonged to the follow-up, symptomatic, and cancer screening groups, respectively. Among the 2083 patients, CRCs diagnosed at an early stage were 57.3% (410 of 715), 23.9% (254 of 1064), and 59.5% (181 of 304) in the follow-up, symptomatic, and cancer screening groups, respectively. The symptomatic group exhibited a lower likelihood of early-stage diagnosis than the follow-up group [P < 0.001, adjusted odds ratio (aOR), 0.23; 95% confidence interval (95%CI): 0.19-0.29]. The likelihood of diagnosis at an early stage was similar between the follow-up and cancer screening groups (P = 0.493, aOR for early-stage diagnosis in the cancer screening group vs follow-up group = 1.11; 95%CI = 0.82-1.49).

CRCs detected during hospital visits for comorbidities were diagnosed earlier, similar to cancer screening. CRC screening should be recommended, particularly for patients without periodical hospital visits for comorbidities.

Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted understanding of national LS ascertainment and outcomes, and precluded evaluation of NICE guidance on testing and management. To address this, via collaboration between researchers, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs), and NHS Regional Clinical Genetics Services, a comprehensive registry of LS carriers in England has been established.

For comprehensive ascertainment of retrospectively identified MMR pathogenic variant (PV) carriers (diagnosed prior to January 1, 2023), information was retrieved from all clinical genetics services across England, then restructured, amalgamated, and validated via a team of trained experts in NDRS. An online submission portal was established for prospective ascertainment from January 1, 2023. The resulting data, stored in a secure database in NDRS, were used to investigate the demographic and genetic characteristics of the cohort, censored at July 25, 2023. Cancer outcomes were investigated via linkage to the National Cancer Registration Dataset (NCRD).

A total of 11,722 retrospective and 570 prospective data submissions were received, resulting in a comprehensive English National Lynch Syndrome Registry (ENLSR) comprising 9030 unique individuals. The most frequently identified pathogenic MMR genes were MSH2 and MLH1 at 37.2% (n = 3362) and 29.1% (n = 2624), respectively. 35.9% (n = 3239) of the ENLSR cohort received their LS diagnosis before their first cancer diagnosis (presumptive predictive germline test). Of these, 6.3% (n = 204) developed colorectal cancer, at a median age of initial diagnosis of 51 (IQR 40-62), compared to 73 years (IQR 64-80) in the general population (p < 0.0001).

The ENLSR represents the first comprehensive national registry of PV carriers in England and one of the largest cohorts of MMR PV carriers worldwide. The establishment of a secure, centralised infrastructure and mechanism for routine registration of newly identified carriers ensures sustainability of the data resource.

This work was funded by the Wellcome Trust, Cancer Research UK and Bowel Cancer UK. The funder of this study had no role in study design, data collection, data analysis, data interpretation, or writing of the report.