Positive Family History Of Colorectal Cancer Research Articles

Young-Onset Colorectal Cancer in Serbia: Tertiary Cancer Center Experience.

Purpose: Early-onset colorectal cancer (CRC) is a growing problem. The aim of the study was to identify adolescent and young adult (AYA) patients with CRC in Serbia, treated in the single tertiary cancer center. Materials and Methods: This is a retrospective study that included only AYA patients (ages 18-39 years) with histologically confirmed CRC. In 11 year (2009-2019), 109 patients were identified from a single-institution database and their clinical variables and outcomes were analyzed. Results: The prevalence of a positive family history of CRC was 12.8%. Presenting symptoms were not different than traditional CRC. More than a quarter were diagnosed as an emergency. Left-sided tumors were diagnosed in 83.4% and mucinous tumors were recorded in one-third of the patients. Postoperatively patients mainly were in PS0-1 (97%). Patients presented as stages II (18.3%), III (47.7%), and IV (33.9%). The recurrence rate in local stages was 50%. Surgical treatment of localized metastatic disease was performed in almost half of the stage IV patients. Median disease-free survival for patients with the recurrent disease was 11.8 months. Median overall survival (OS) for the local and metastatic stage was 64.3 and 20.5 months, respectively. Survival analysis showed that performance status, bowel obstruction, N2 status, local invasions, disease stage, and surgery in stage IV had a statistically significant influence on OS. Conclusion: Serbian AYA CRC patients are of good general condition, with advanced left-sided tumors, common mucinous histology, and inverse histology features. Surgery in metastatic disease provided long-term survival. The outcome of the patient is influenced by a late diagnosis, inverse histological features, and treatment provided.

Diet and Lifestyle Habits in Early-Onset Colorectal Cancer: A Pilot Case-Control Study

Background: Early-onset colorectal cancer (eoCRC), defined as a colorectal cancer (CRC) in patients younger than 50 years old, shows an increasing incidence worldwide in the latest years. The role of exogenous factors associated with CRC has been largely overlooked in eoCRC. Here, we conducted a case-control study to evaluate the diet and the lifestyle habits in an Italian population of patients with eoCRC, compared to age-matched healthy controls (HCs). Methods: We enrolled 118 subjects (47 cases, 71 controls) in a third-level academic hospital. We analyzed epidemiological features (age, sex, body mass index), lifestyle behaviors (smoking habits, physical activity, type of diet, use of dietary supplements), and eating habits (semiquantitative food-frequency questionnaire) in eoCRCs and HCs, covering the previous 5 years. Results: In our cohort, positive family history of CRC was significantly associated with the development of eoCRC (p = 0.004). Fresh meat (p = 0.003), processed meat (p < 0.001), dairy products (p = 0.013), and smoking (p = 0.0001) were significantly associated with eoCRC compared to controls. Other variables did not differ significantly between the two groups. Conclusion: Fresh and processed meat, dairy products, and smoking could be considered significant risk factors for eoCRC, although further confirmation by international multicenter studies is desirable. Diet and smoking could be the main areas of future interventions for eoCRC primary prevention.

Screeners vs. Non-screeners for Colorectal Cancer among People over 50 Years of Age: Factual and Psychological Discriminants.

Colorectal cancer (CRC) is the third most frequent form of cancer worldwide, and approximately one third of cases have a positive family history of CRC or associated cancers. Colonoscopy is one of the most effective methods of screening for CRC. Uptake of colonoscopy is suboptimal, and many countries lack a national screening programme. Our study aims at exploring and ranking several factual and psychological variables according to their accuracy in discriminating between screeners and non-screeners for CRC in a convenience sample of people over 50 years of age. The study included 103 individuals aged over 50 years, recruited from day centres for the elderly. We explored socio-demographic variables, frequency of colonoscopy, previous recommendations for screening, health literacy and family history of cancer. Receiver operating characteristic (ROC) analysis was used to establish the discriminative value for each variable between the positive and negative decision for colonoscopy screening. Areas under the curve (AUC) and their equivalent Cohen's d values were calculated. Almost a quarter (25.75%) of participants reported previous colonoscopy screening. ROC curve analysis shows that colonoscopy uptake is best discriminated by perceived benefits of screening (AUC=0.71, d=0.78, p<0.001), previous recommendations for screening (AUC=0.68, d=0.69, p<0.001) and previous recommendations for preventive measures (AUC=0.67, d=0.64, p<0.001). Recommendations from healthcare professionals lead to improved colonoscopy uptake when emphasising the benefits of screening. Results can further inform psychosocial interventions by bringing empirical evidence to emphasize screening benefits and explicit recommendations for individuals at risk for CRC cancer.

Colorectal Cancer in Brunei Darussalam: An Overview and Rationale for National Screening Programme.

Colorectal cancer (CRC) is the third most common cancer worldwide after lung and breast cancers, and ranks second in terms of cancer mortality globally. Brunei Darussalam reports high incidence of CRC in the Southeast Asian region and has no formal national screening programme for CRC. Screening for CRC in Brunei Darussalam is offered in an opportunistic fashion for individuals with average or above average risks for CRC, that is, the individual has a positive family history of CRC or neoplasms and is more than 50 years old. Opportunistic screening is widely practiced but this is not standardised. The Ministry of Health in Brunei Darussalam is currently in the process of implementing a CRC screening programme as part of a larger national health screening based on the increasing incidence of non-communicable diseases (NCDs). This review article assesses the situation of CRC in Brunei Darussalam from the 1980s to present day, including incidence of CRC in different age groups, ethnicities and genders; relevant non-modifiable and modifiable risk factors of CRC in Brunei Darussalam setting; and common CRC screening techniques used in Brunei Darussalam as well as other Asia-Pacific countries. The review also discusses the merits of a national CRC screening programme. With the increasing incidence of CRC worldwide and in Brunei Darussalam, national screening for CRC in Brunei Darussalam is an important strategy to lower morbidity and mortality rates. A review of the progress and outcome of the national screening programme will be available a few years after rollout.

A Comparison of Emergency First Presentations of Colorectal Cancer in Under–50 and Over–50 Year-Old Patients

Introduction: Colorectal cancer (CRC) is the second commonest malignancy related death in Western Europe with incidence increasing in young adults. 31% of UK patients with CRC present as emergencies. We compare the incidence, characteristics, management and outcomes in two cohorts presenting as CRC emergencies; under-50 and over-50 years old. Materials and Methods: Retrospective analysis was performed on 322 patients with emergency presentations of CRC over a 9-year period (January 2005–December 2013, West Suffolk Hospital, UK). Data were analyzed for demographics, symptoms, investigations, stage, grade, genetics, tumor location, management, and mortality. Results: 300 patients over 50 years old presented with CRC emergencies; 153 women (51%):147 men (49%); median age 77 years (interquartile range: 67–84). 22 patients under 50-years-old; 12 women (55%):10 men (45%); median age 43 years ([Interquartile Range (IQR)]: 35–46 years). Bowel obstruction was less common in under-50s (18.2% vs. 40.7%; p = 0.04). No over-50s had a positive family history for CRC; 7 under-50s did. A higher proportion of under-50s presented with Dukes A carcinomas (14.3% vs. 0.4%; p = 0.002), but no difference in other Dukes stages. Surgery was performed in a higher proportion of under-50s (95.5% vs. 77.0%; p = 0.04) and a higher proportion had same day surgery (71.4% vs. 28.1%; p = 0.01). Overall mortality was lower in under-50s (36.4% vs. 64.0%; p = 0.02). No significant differences occurred in in-hospital mortality (4.7% vs. 8.0%; p = 0.55), overall one-year survival (31.8% vs. 41.7%; p = 0.36), or median survival to death or study conclusion (27.1 vs. 19.6 months; p = 0.13). Conclusion: Emergency CRC had comparable outcomes between young and old cohorts, during the study time period. Younger patients were more likely to undergo operative interventions but overall survival was comparable.Our study was limited by the reporting biases intrinsic to retrospective analyses and by a small under-50 sample size. Further large-scale studies are warranted to support observations.

Utilization of colonoscopy and colonoscopic findings among individuals aged 40-54 years with a positive family history of colorectal cancer: a cross-sectional study in general practice.

Guidelines recommend early colonoscopy for individuals with a positive family history of colorectal cancer (CRC), but little is known about the utilization of colonoscopy and the frequency of colorectal neoplasms among younger affected individuals in Germany. The aim of this study was to determine the utilization of colonoscopy and the frequency of colorectal neoplasms in this risk group. We conducted a cross-sectional study in a general practice setting. Patients aged 40-54 years with at least one first-degree relative with CRC were identified, counseled on their increased risk, and referred to colonoscopy if they decided to undergo this procedure. We assessed the reported utilization of colonoscopy before study participation with a questionnaire and obtained results of colonoscopies performed during the study period from colonoscopy reports. Out of 484 patients with a positive family history of CRC, 191 (39.5%) fulfilled the inclusion criteria and participated in the study: 54% reported that at least one colonoscopy had been performed before study participation. Out of 191 participants, 86 (45%) underwent a colonoscopy during study period. No CRC was found, but 16.3% had any adenoma, and 7.0% had advanced adenomas. Overall, 155 (82%) study participants underwent a colonoscopy either before or during the study period. The utilization of colonoscopies among participants was remarkably high even before study participation. This rate increased up to 82% after counseling by general practitioners. A relevant number of participants had (advanced) adenomas. It appears worthwhile to involve general practitioners in identifying and counseling younger individuals with familial risk for CRC.

Association of interleukin-17A polymorphisms with the risk of colorectal cancer: A case-control study

BackgroundInterleukin (IL)-17A is proinflammatory cytokine produced by Th17 cells, which play key, but sometimes inconsistent role in autoimmunity and cancer. Polymorphic variants in IL-17A gene were differentially associated with susceptibility to cancer, including colorectal cancer (CRC). AimWe investigated the association between six IL-17A gene variants (rs3819024, rs2275913, rs3819025, rs10484879, rs7747909, and rs3748067) with CRC susceptibility in Tunisians. Subjects and MethodsRetrospective case-control study. Study subjects comprised 293 patients with CRC, and 268 age-, gender-, and BMI-matched healthy controls. IL-17A genotyping was done by real-time PCR, with defined clusters. ResultsOf the seven tested IL-17A tag-SNPs, minor allele frequency (MAF) of rs10484879 was significantly higher in CRC patients than control subjects. Heterozygous rs10484879 [OR (95% CI) = 2.63 (1.64–4.21)] was associated with higher risk, while carriage of heterozygous rs3748067 genotype was associated with reduced risk of CRC [OR (95% CI) = 0.56 (0.37–0.84)], respectively. Carriage of rs10484879 minor allele correlated with positive family history of CRC and other cancers (P = 0.002), CRC staging (P = 0.044), CRC treatment (P = 0.038), and with chemo body reaction (P = 0.001). Of the 7 IL-17A variants, 4 were in linkage disequilibrium, hence allowing for construction of 4-locus haplotypes. Varied linkage disequilibrium (LD) was noted between the even tested IL-17A variants, and further analysis was limited to only 4-locus (rs3819024-rs2275913- rs10484879-rs7747909). Haploview analysis identified the 4-locus IL-17A haplotypes AGTG (P < 0.011), and GATG (P = 0.036) to be positively associated with CRC, after controlling key covariates. ConclusionIL-17A rs10484879 SNP, and IL-17A haplotypes AGGTG and GAGTG constitute independent factors of CRC susceptibility. We propose that IL-17A may be a target for future CRC immunotherapy.

Factors Associated with Colorectal Cancer Among Jordanians: a Case- Control Study

Objective:In recent years, the incidence of colorectal cancer (CRC) in Jordan has been on the rise. We aimed to determine associations with lifestyle factors, demographic and clinical variables.Methods:This case-control study included 102 patients diagnosed with CRC and 198 age and gender matched healthy subjects as controls. Cases were purposefully sampled; however, the control group were selected by simple random sampling of a cross-section of the population in Northern Jordan. Participating cases and controls completed an anonymous questionnaire inquiring about their demographic characteristics, lifestyle factors, and clinical variables. Data about the medical history and diagnosis of participating cases were obtained from the cases themselves and confirmed by reviewing their medical records.Results:In the cross tabulation analysis, the Chi square test showed that diabetes and hypertension were significantly associated with CRC (P <0.05). Additionally, regression modeling revealed that age ≥ 45 years (OR=10.93), positive family history for CRC (OR=5.53), physical inactivity (OR=7.4), cigarette smoking (OR=3.71), and having other types of cancer (OR=13.61) were all associated with increased risk of CRC.Conclusions:Physical inactivity and cigarette smoking are among the top modifiable risk factors for CRC among Jordanians. Moreover, diabetes and hypertension were found to be statistically significant risk factors in univariate, but not multivariate analysis. More effective strategies for elevating awareness and prevention are required at both national and international levels. Improving screening strategies is needed for early detection of CRC in Jordan.

Modelling the Development of Precancerous Polyps: Utility of Social History, Comorbidities, FOBT/FIT Testing, and NSAID Use

Introduction: Studies have attempted to ascertain the risk factors (RF) for developing colorectal cancer (CRC), but few have attempted to elucidate the causes of precancerous (PC) polyposis. Early detection of PC polyps is essential to prevent progression to CRC. Evaluation of RF such as family history (FH), tobacco and alcohol abuse, and glycemic control may be useful in determining which patients may be more likely to have PC polyps. Methods: Data were collected on 4200 patients at the Robley Rex VAMC in Louisville, Ky. 2758 were excluded based on exclusion criteria: diagnosis of IBD and pre-existing malignancies, birth prior to 1948, poor bowel preparation, and lack of pathologic/histologic data from first colonoscopy. Of the 1442 patients included in the study, a subset had: FOBT or FIT testing, positive family history of CRC, positive smoking history, COPD, history of NSAID use, and hemoglobin A1c within 6 months of colonoscopy. A Poisson regression was used for analysis of relative risk (RR). P<0.05, was deemed statistically significant. Results: Delaying colonoscopy had a RR of 1.03 (P<0.001) per year and males had an increased RR of 1.32 (P=0.011) when compared to females. Family history of CRC (first degree relative) had a RR of 1.179 (P=0.016). Hemoglobin A1c >6.5% had a RR of 1.147 (P=0.031). A positive FOBT/FIT also demonstrated an increase in RR of 1.677 (P<0.001). Current smokers had a RR of 1.215 (P=0.003) when compared to those who never smoked. Patients with COPD had a RR of 1.348 (P<0.001). NSAID users had a decreased RR of 0.688 (P<0.001), if NSAIDs were used within 6 months preceding initial colonoscopy. Conclusion: Development of PC polyps is multifactorial. Increased risk occurs in those with a positive family history, smoking, history of COPD and suboptimal glycemic control. Results indicate that positive FOBT and FIT are also associated with an increased relative risk for PC polyps. This may illustrate a greater ability of these testing modalities to detect PC polyps. Interestingly, the use of NSAIDs appears to have a protective effect, thereby decreasing the RR. The major limitation of this study is the primarily male VA population. In the future, utilization of the factors identified in this study may allow for further risk stratification, resulting in specific target years for initial screening colonoscopies.Table: Table. Model for precancerous colonic polyp risk

Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.

Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients. Peripheral blood DNA was obtained from 13 individuals who were at high risk of LS due to positive MSI status and young age (<60 years at diagnosis). Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification were used to screen for germline variants in the MLH1, MSH2, MSH6 and PMS2 MMR genes. These were cross-referenced against several variant databases, including the International Society for Gastrointestinal Hereditary Tumors Incorporated database. Variants with pathogenic or likely pathogenic significance were identified in 8 of the 13 high risk cases (62%), comprising 4 in MLH1 and 4 in MSH2. All carriers had a positive family history for CRC or endometrial cancer. Next generation sequencing is an effective strategy for identifying young CRC patients who are at high risk of LS because of positive MSI status. We estimate that 7% of CRC patients aged <60 years in Saudi Arabia are due to LS, potentially involving around 50 new cases per year.

Who Should Provide Persons with Familial Risk of Colorectal Cancer with Information on Early Detection? - The View of those Affected

Colonoscopy is recommended for persons with a familial risk of colorectal cancer (CRC) before they reach 55 years of age. The aim of this analysis was to ask affected persons aged 40-54 years whether they had found out about early detection of CRC and from which institutions and media they would like to obtain such information. Analysis of data from a cross-sectional study: In a general practice setting, those with a positive family history of CRC were asked to provide written information. In total, 191 persons with a positive family history of CRC participated in the study: 59.6% had already found out about early detection of CRC. Out of this, 67.0% had received information from their physicians. Most of the participants wanted information on early detection of CRC to be provided by the general practitioner (98.9% completely or mostly agree), and by health insurers (74.5% completely or mostly agree). The participants would rather not prefer to receive information from public institutions such as the public health department (69.5% not or mostly not agree) and private organizations such as self-help groups (80.9% not or mostly not agree). Approximately half would prefer to receive such information via TV. More men than women would prefer to source such information from the internet (completely or mostly agree: 66.7 vs. 43.8%), or newspapers and magazines (completely or mostly agree: 53.6 vs. 41.8%). A survey in a general practice setting found that more than half of persons with familial risk of CRC had already obtained information on early detection. The setting of the survey on preferred information sources possibly encouraged participants to put general practitioners in the first place. Furthermore, the results of this nationwide unique cohort of persons aged 40-54 with a familial risk of CRC show that their information-seeking behavior was not more pronounced than average and that men and women can be provided with information in different ways.

Frequency of a positive family history of colorectal cancer in general practice: a cross-sectional study.

Evidence on the frequency of a positive family history of colorectal cancer (CRC) among individuals aged <55 years is lacking. General practice setting might be well suited for the identification of individuals in this above-average risk group. To determine the frequency of a reported positive family history of CRC among patients aged 40 to 54 years in a general practice setting. We conducted a cross-sectional study in 21 general practices in Germany. Patients aged 40 to 54 years were identified by means of the practice software and interviewed by health care assistants using a standardized four-item questionnaire. Outcome was occurrence of a positive family history of CRC, defined as at least one first-degree relative (FDR: parents, siblings, or children) with CRC. Further measurements were FDRs with CRC / colorectal polyps (adenomas) diagnosed before the age of 50 and occurrence of three or more relatives with colorectal, stomach, cervical, ovarian, urethel or renal pelvic cancer. Out of 6723 participants, 7.2% (95% confidence interval [CI] 6.6% to 7.8%) reported at least one FDR with CRC and 1.2% (95% CI 0.9% to 1.5%) reported FDRs with CRC diagnosed before the age of 50. A further 2.6% (95% CI 2.3% to 3.0%) reported colorectal polyps in FDRs diagnosed before the age of 50 and 2.1% (95% CI 1.8% to 2.5%) reported three or more relatives with entities mentioned above. One in 14 patients reported at least one FDR with CRC. General practice should be considered when defining requirements of risk-adapted CRC screening.

Separating the Wheat From the Chaff: Identifying Sessile Serrated Adenomas Among Polyps Previously Read as Hyperplastic

Introduction: Sessile serrated adenomas (SSAs) are important colorectal cancer (CRC) precursor lesions. Due to changing pathologic definitions and criteria, patients with SSAs may be misclassified as having hyperplastic polyps (HPs), particularly in older studies. Surrogate definitions of important serrated polyps such as large or proximal HPs are imperfect, as not all these polyps have malignant potential. We sought to estimate the true proportion of proximal and large HPs that are actually SSAs. Methods: Using pooled data from a series of cross-sectional studies of patients undergoing colonoscopic screening between 1998 and 2010 at the University of North Carolina, we identified patients with proximal HPs and HPs ≥5 mm. Polyps were then reviewed by an expert pathologist using established pathological criteria to determine the presence of SSAs. Data on polyp size, location, and synchronous polyps were abstracted from colonoscopy and pathology reports. Results: Among 2,308 patients undergoing colonoscopy, we identified 532 with lesions initially diagnosed as HPs (23%). One hundred seventy-six patients had proximal HPs, and 126 had HPs ≥5 mm. A total of 191 patients (8%) had either large or proximal HPs and were submitted for pathology review. Among these, 78 patients had at least 1 SSA (41%), and 6 had SSAs with cytological dysplasia. Half of SSAs were associated with synchronous conventional adenomas, and 22 patients (28%) had multiple SSAs (range: 2-12); 55% of those with SSAs were male. The proportion of polyps that were SSAs increased slightly over time (SSAs represented 2.8%, 3.2%, and 4.1% of polyps in 1998-2000, 2001-2005, and 2006-2010, respectively). Compared to reviewed polyps that were confirmed to be HPs, SSAs were larger (mean size 6.4 vs. 4.5 mm; p<0.001), more proximally located (83% vs. 69%; p=0.03), and were more commonly associated with a positive family history of CRC (17% vs. 6%; p=0.03). Conclusion: Patients with SSAs represented roughly 40% of those with proximal or large serrated polyps in this study. Predictors of SSAs among this group included larger size, proximal location, and family history of CRC. These data may aid gastroenterologists to risk stratify and assign appropriate surveillance intervals to patients with large or proximal HPs found on colonoscopy.Table 1: Characteristics of Patients With SSAs

Pair-wise comparison analysis of differential expression of mRNAs in early and advanced stage primary colorectal adenocarcinomas

ObjectivesTo characterise the mRNA expression patterns of early and advanced stage colorectal adenocarcinomas of Malaysian patients.DesignComparative expression analysis.Setting and participantsWe performed a combination of annealing control primer (ACP)-based PCR and...

Biallelic MUTYH mutations can mimic Lynch syndrome

The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), germline mutations in the DNA mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression. However, in ∼10-15% of clinically suspected LS cases, MMR mutation analyses cannot explain MSI-H and abnormal immunohistochemistry (IHC) results. The highly variable phenotype of MUTYH-associated polyposis (MAP) can overlap with the LS phenotype, but is inherited recessively. We analysed the MUTYH gene in 85 'unresolved' patients with tumours showing IHC MMR-deficiency without detectable germline mutation. Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. LS was suspected due to a positive family history of CRC and because of MSI-H and MSH2-MSH6 deficiency on IHC in the sebaceous gland carcinoma. Sequencing of this tumour revealed two somatic MSH2 mutations, thus explaining MSI-H and IHC results, and mimicking LS-like histopathology. This is the first report of two somatic MSH2 mutations leading to an MSI-H tumour lacking MSH2-MSH6 protein expression in a patient with MAP. In addition to typical transversion mutations in KRAS and APC, MAP can also induce tumourigenesis via the MSI-pathway.

Screening colonoscopy in first-degree relatives of patients with colorectal cancer.

Colorectal cancer (CRC), one of the most important causes of morbidity and mortality, has earned the attention of healthcare systems widely. Screening programs are designed to detect patients at risk as effectively as possible. One of the major CRC risk factors is having a family member with diagnosed CRC. To investigate the association between presence of polyps on colonoscopy and family history of CRC. This was a retrospective cohort study in which the data was collected from colonoscopy reports of patients with/without familial history of CRC in Masoud private clinic, Tehran, Iran from October 1, 2011 to October 1, 2012. The association between presence of colorectal polyps on colonoscopy and family history of CRC was then assessed. A total of 210 patients were included in the study, constituting two groups with/without familial history of CRC with a 1:1 ratio (105 subjects in each group). Compared to subjects with a negative family history of CRC, a 2.7-fold (CI 95%: 1.2-6.24) fold increase was observed in those with a positive family history to have colorectal polyps. In multivariate regression analysis, family history of CRC was the only independent variable associated with presence of colorectal polyps (odds ratio: 3.12, CI 95%:1.22-8). A positive family history of CRC is a risk factor for colorectal polyps.

Colorectal Cancer Screening among Government Servants in Brunei Darussalam

This study concerns uptake and results of colorectal cancer (CRC) screening of government servant as part of the Health Screening Program that was conducted in Brunei Darussalam in 2009. Government servants above the age of 40 or with family history of CRC were screened with a single fecal occult blood test (FIT, immunohistochemistry). Among 11,576 eligible subjects, 7,360 (66.9%) returned their specimen. Subjects with positive family history of CRC (n=329) or polyps (n=135) were advised to attend clinics to arrange screening. All the subjects with positive FIT (n=142, 1.9%) were referred to the endoscopy unit for counselling for screening colonoscopy. Overall only 17.7% of eligible subjects attended for screening; 54.9% (n=79/142) of positive FIT, 8.8% (n=29/329) of positive family history of CRC and none with history of polyps (n=0/135). Of these, only 54 patients (50.5%) agreed for colonoscopy, 52 (48.6%) declined as they were asymptomatic, and one was not offered (0.9%) due to his very young age. On screening colonoscopy, 12.9% (n=7) had advanced lesions including a sigmoid carcinoma in situ and six advanced polyps. The other findings included non advanced polyps (n=21), diverticular (n=11) and hemorrhoids (n=26). One patient who missed his screening colonoscopy appointment re-presented two years later and was diagnosed with advanced right sided CRC. All the advanced lesions were detected in patients with positive FIT, giving a yield of 20.5% for advanced lesions including cancers in the 5.1% FIT positive subjects. Our study showed screening for CRC even with a single FIT was effective. However, the uptake rate was poor with just over half of the patients agreeing to screening colonoscopy. Measures to increase public awareness are important. Since one limitation of our study was the relatively small sample size, larger studies should be conduced in future.

Prospective cohort study of compliance with faecal immunochemical tests for colorectal cancer screening in Hong Kong

ObjectiveThis study aims to examine the rate and determinants of faecal immunochemical test (FIT) compliance over a four-year period among asymptomatic participants in a colorectal cancer (CRC) screening programme in Hong Kong. MethodSelf-referred screening participants aged between 50 and 70years who chose FIT for annual screening were followed up for four years (2008–2012). All participants were reminded up to three times yearly for FIT retrieval within two months of the expected screening date. The proportions of screening participants who failed to adhere to annual FIT tests in 1, 2, 3 and 4-years, respectively, after the initial screening uptake were evaluated. The factors associated with non-compliance with FITs in any year were assessed by a binary logistic regression analysis. ResultsFrom 5700 consecutive screening participants, the compliance rates to FIT were 95.1%, 79.9%, 66.2% and 68.4% at years one to four, respectively. The proportions of people missing one, two and three tests were 6.2%, 19.6% and 2.1%, respectively. From multivariate regression analysis, male subjects, younger participants, smokers and those with positive family history of CRC were more likely to be non-compliant. ConclusionParticipants identified as at higher risk for screening non-compliance should be especially considered for individual reminders to enhance screening effectiveness.

Screening Colonoscopy Participation in Turkish Colorectal Cancer Patients and their First Degree Relatives

This study aimed to research the awareness of screening colonoscopy (SC) among patients with colorectal cancer (CRC) and their relatives. A questionnaire form including information and behavior about colonoscopic screening for CRCs of patients and their first-degree relatives (FDRs) was prepared. A total of 406 CRC patients were enrolled into the study, with 1534 FDRs (siblings n: 1381 and parents n: 153) . Positive family history for CRC was found in 12% of the study population. Previous SC was performed in 11% of patients with CRC. Mean age of the patients whose FDRs underwent SC was lower than the patients whose FDRs did not (52 vs 57 years; p<0,001). The frequency of SC in FDRs was 64% in patients diagnosed CRC under 35 years of age. Persons having a positive family history of CRC had SC more often (51 vs 22%, p<0,001). FDRs of patients having a higher educational level and income had SC more frequently. When screening for CRC is planned, elderly subjects, those with family history for CRC, and those with low educational and lower income should be given especial attention in order that they be convinced to undergo screening for CRC.

A review of the genetic background and tumour profiling in familial colorectal cancer

Inherited predisposition plays a role in 10-30% of colorectal cancer (CRC) cases. Of the large families with a clearly positive family history of CRC, ∼40% is not affected by known CRC syndromes. The existence of families with unexplained forms of inherited CRC--familial CRC--suggests the presence of still unknown high- or moderate-risk CRC predisposing factors. While the genomic profiles of sporadic CRCs have been studied extensively, few studies have analysed the tumour profiles of hereditary or familial CRC. Here, we review recent advances in genomic tumour profiling in familial CRC in comparison with sporadic CRC. In addition, we discuss the role of known CRC risk factors in familial CRC.