Family History Of Bowel Cancer Research Articles

Colorectal cancer and associated genetic, lifestyle, cigarette, nargileh-hookah use and alcohol consumption risk factors: a comprehensive case-control study.

This study aimed to investigate the causes and risk factors of colorectal cancer (CRC) in a Turkish population, focusing on various modifiable and non-modifiable risk factors. A hospital-based case-control design was employed to compare individuals with CRC (cases) to individuals without CRC (controls). Male and female participants were recruited from the surgery, internal medicine, and out-patient departments. The study encompassed socio-demographic data, clinical information, radiological diagnoses, and biochemical measurements. Univariable and multivariable logistic regressions were used to determine associated risk factors of CRC. The study included 704 individuals with CRC and 704 controls. Significant socio-demographic disparities were observed between the groups, with over 30% of the cases having lower levels of education and income compared to the controls. Lifestyle factors such as obesity, higher rates of smoking (cigarettes and hookah) and alcohol consumption were more prevalent among cases than controls. Further significant associations were identified with intestinal inflammation, obesity, processed food consumption, and symptoms such as abdominal pain, cramps, diarrhea, constipation, blood in stool, bloating, irritable bowel syndrome, nausea/vomiting, anemia, stress, fatigue, weakness, and weight loss. Diet analysis revealed that individuals with CRC consumed more red meat, processed and fast foods along with less pulses and vegetables. Genetic predispositions and exposure to chemicals also correlated strongly with increased CRC risk. Multivariable regression analysis identified, nausea/vomiting, constipation, intestinal disease, genetics factor, hookah-nargileh use, history of any cancer, family history of bowel cancer, constipation, cigarette smoking, stress, milk-yogurt consumption, obesity and red meat consumption as significant determinants for CRC. CRC risk is influenced by dietary, lifestyle, and genetic factors. Awareness of hereditary risk and participation in screening are crucial. Lifestyle changes, such as avoiding smoking, hookah, and alcohol use, and adopting a healthy diet, are essential for prevention.

Effects of a self-affirmation intervention on responses to bowel cancer screening information

Objective To investigate the effect of two brief self-affirmation interventions, immediately prior to reading standard information about bowel cancer screening, on state anxiety, message acceptance and behavioural intention to screen for bowel cancer. Methods 242 adults aged 49 were randomised to one of two self-affirmation interventions (health or values) or one of two control conditions, before reading an NHS England bowel cancer screening leaflet. Participant friend and family history of bowel cancer, state anxiety, message acceptance, behavioural intention to screen, trait self-esteem and spontaneous self-affirmation were measured. Data were analysed using between-participants analysis of variance, planned contrasts and moderated regression. Results No main effects of experimental condition on levels of state anxiety, message acceptance and behavioural intention were found. However, planned contrasts showed participants who self-affirmed about their health or values (conditions-collapsed) were significantly less anxious and reported significantly higher behavioural intentions compared to participants in the controls (conditions-collapsed). Irrespective of condition, higher levels of spontaneous self-affirmation and trait self-esteem were correlated with lower anxiety, higher intentions, and message acceptance. Conclusion There was some evidence of the effect of health-based self-affirmation on lowering anxiety; however, further research is needed to explore the effectiveness of different self-affirmation interventions in larger samples.

2002 An observational study of the effectiveness of FIT test as a risk stratification tool in frail patients presenting with anaemia

Abstract Introduction Faecal-immunochemical-test is employed as a screening tool for colorectal cancer. Our observational study examined the FIT in primary care as a risk stratification tool in frail patients. Method The records of 217 frail patients over a 24-month period were analysed. Patients with haematological indices of anaemia were offered FIT to detect GI haemorrhage as part of assessment for selection for lower GI investigations. Patients were risk stratified based on FIT results based on the presence or absence of red flags. Patients who were FIT positive were referred for urgent lower GI endoscopy versus those who were FIT negative were managed without bowel investigations unless there were red flags such as abdominal mass, changed bowel habits or family history of bowel cancer. Results Of 217 patients over a 24-month period of these 42 patients (19.4%) were FIT positive. All of these (n = 42) underwent colonoscopy of which 15 (normal)16 (colonic polyps) 6 (diverticulosis) 3 (colorectal cancer). Of the 42 FIT positive patients 16 were on direct oral anticoagulant (DOAC). Patients on DOACs and those on dual anti platelet agents were more likely to be FIT positive. We also found a positive correlation between higher frailty indices, HAS BLED scores and chronic kidney disease and low creatinine clearance r=0.82, p=0.001. Despite the small numbers in this study the correlation is statistically significant Conclusion There is a statistically significant positive correlation of FIT positive and frailty indices with DOACs, Dual anti platelet agents, CKD, low creatinine clearance (r=0.82 and p=0.001). Following this the HASBLED scores increased hence our practices implemented an enhanced surveillance of monitoring these patients quarterly due to the increased risk. We advocate frailty indices should be incorporated in the HAS BLED scores for improved patient safety.

Predicting risk of endometrial cancer in asymptomatic women (PRECISION): Model development and external validation.

Develop an endometrial cancer risk prediction model and externally validate it for UK primary care use. Cohort study. The UK Biobank was used for model development and a linked primary (Clinical Practice Research Datalink, CPRD) and secondary care (HES), mortality (ONS) and cancer register (NRCAS) dataset was used for external validation. Women aged 45-60 years with no history of endometrial cancer or hysterectomy. Model development was performed using a flexible parametric survival model and stepwise backward selection aiming to minimise the Akaike information criterion. Model performance on external validation was assessed through flexible calibration plots, calculation of the expected to observed ratio and C-statistic and decision curve analysis. Endometrial cancer diagnosis within 1-10 years of the index date. Model development included 222 031 women (902 incident endometrial cancer cases) and external validation 3 094 371 women (8585 endometrial cancer cases). The final model (with equation provided) incorporated age, body mass index, waist circumference, age at menarche, menopause and last birth, hormone replacement, tamoxifen and oral contraceptive pill use, type 2 diabetes, smoking and family history of bowel cancer. It was well calibrated on external validation (calibration slope 1.14, 95% confidence interval [CI] 1.11-1.17, E/O 1.03, 95% CI 1.01-1.05), with moderate/good discrimination (C-statistic 0.70, 95% CI 0.69-0.70) and had improved net benefit compared with previously developed models. The Predicting risk of endometrial cancer in asymptomatic women model (PRECISION), using easily measurable anthropometric, reproductive, personal and family history, accurately quantifies a woman's 10-year risk of endometrial cancer. Its use could determine eligibility for primary endometrial cancer prevention trials and for targeted resource allocation in UK general practices.

Evaluation of Early-Life Factors and Early-Onset Colorectal Cancer Among Men and Women in the UK Biobank

Evaluation of Early-Life Factors and Early-Onset Colorectal Cancer Among Men and Women in the UK Biobank

106 A Retrospective Study Comparing Histopathology Proformas For Anterior Resections Against the Royal College of Pathology (RCPath) Guidelines

Abstract Introduction Royal College of Pathologists (RCPath) published guidance on clinical information needed on histopathology forms accompanying colorectal cancer specimens. Inadequate information can significantly impact the ability of histopathologists to accurately interpret specimens; in turn correctly diagnose and stage cancers. The primary aim of our audit was to evaluate local compliance with the RCPath guidelines. Method Histopathology request forms of 50 patients undergoing anterior resections between January 2018-19 were retrospectively evaluated against the RCPath guidelines, ‘Standards and datasets for reporting cancers’ published in December 2017. Results Of the 50 patients, the site and type of tumour resection were documented in 94% and 56% of cases, respectively. 48% of cases specified whether the surgery was open or laparoscopic. However only 4% mentioned the preoperative tumour stage, and only 10% recorded whether any pre-operative therapy had been given. Furthermore, no cases reported whether there was a family history of bowel cancer or inflammatory bowel disease. Conclusions Information on colorectal histopathology forms is failing to meet RCPath guidelines. Significant information regarding preoperative treatment, associated malignancy risk factors and resection type is absent in over half of cases. This will have detrimental effects on the ability of histopathologists to accurately assess and interpret cancer specimens.

Development and validation of risk prediction equations to estimate survival in patients with colorectal cancer: cohort study

Objective To develop and externally validate risk prediction equations to estimate absolute and conditional survival in patients with colorectal cancer. Design Cohort study.Setting General practices in England providing data for...

Patient acceptance of the optical diagnosis and misdiagnosis of diminutive colorectal polyps

Optical diagnosis allows for real-time endoscopic assessment of colorectal polyp histology and consists of the resect and discard and diagnose and leave paradigms. This survey assessed patient acceptance of optical diagnosis and their responses to a hypothetical doomsday scenario. We conducted a 3-month cross-sectional survey of colonoscopy outpatients presenting to an Australian academic endoscopy center. A total of 981 patients completed the survey (76.0% response rate). The 60.8% of patients who supported resect and discard were more likely to be older men who co-supported diagnose and leave. Fewer patients (49.6%) supported diagnose and leave. A family history of missed cancer diagnosis (odds ratio [OR], 0.59; P=.003) was significantly associated with rejection of resect and discard, and a personal or family history of bowel cancer (OR, 0.7; P= .04) was significantly associated with rejection of diagnose and leave. In the hypothetical scenario of a cancerous polyp incorrectly left in situ leading to stage III disease, 208 (21.2%) patients would definitely ask for financial compensation, 584 (59.5%) were unsure, and 189 (19.3%) would definitely not seek compensation. The patient-proposed median value of compensation sought was $760,000 USD ($1,000,000 AUD; $1 AUD = $0.76 USD). Notably, 18.5% would be willing to give optical diagnosis another chance after this error. Patient support for optical diagnosis is limited, and those who are not supporters are more likely to seek financial compensation if errors occur.

Colorectal cancer in young patients: A case report

The incidence of colorectal cancer is increasing in patients younger than 50 years. In this population, the disease appears to be more aggressive and advanced at the time of diagnosis, although initial symptoms are similar. Majority of the cases are sporadic tumors, but some are related to hereditary syndromes such as Lynch syndrome, which is why genetic testing is indicated. We report the case of a 17-year-old patient with colorectal cancer and no family history of bowel cancer.

Assessment of family history of colorectal cancer in primary care: Perceptions of first degree relatives of people with colorectal cancer

ObjectiveFirst degree relatives (FDRs) of someone with colorectal cancer (CRC) are at increased risk of the disease. In this study we examine the factors associated with discussing family history of CRC with a health professional. MethodsPeople with CRC, recruited through the population-based Victorian Cancer Registry in Australia, were asked to refer FDRs to the study. Eight hundred and nineteen FDRs completed a telephone interview. ResultsThirty-six percent of FDRs recalled ever being asked about their family history of bowel cancer by a health professional. Factors associated with having this discussion were being aged 50–60 years, having a university education, being in the potentially high risk category, being very worried about getting bowel cancer and knowing that family history increases risk through discussions with family, friends or their own education. ConclusionDespite evidence that doctor endorsement is a key factor in the uptake of CRC screening, our study shows that the majority of FDRs do not recall being asked by a health professional about their family history. Practice implicationsThere is a need to identify the most appropriate method to improve rates of health professional discussion of family history with relatives of CRC patients in order to improve screening rates.

PTU-028 Symptom Assessment of Patients in the Cheshire Bowel Cancer Screening Programme with a finding of Cancer

IntroductionWhen attending the bowel cancer screening (BSC) programme patients undergo pre-colonoscopy assessment of their symptoms. This is conducted by the specialist screening practitioner for the BCS programme. Following a diagnosis...

Fatal hemorrhage from an undiagnosed rectal carcinoma in a case of Diogenes syndrome

Case report A 61-year-old male was found dead at his home address after a strong putrefactive odor was noted. The decedent was lying on a couch, with his underpants pulled down to his knees, and a blood stained towel located beneath his buttocks. A large amount of blood had dried over his exposed groin region and thighs. Inspection of the house revealed blood-stained towels, underwear, and newspaper pages strewn on the floor in various rooms, with trails of blood droplets on the floor in the hallways and in various rooms. Several chairs had blood stained impressions where he had been sitting (Fig. 1). The toilet bowl and seat were also covered in blood. The house was noted to be quite untidy with rotting food and empty drink and take-away food containers throughout. The decedent was described as a ‘‘very private person’’ who had been unwell in recent times with loss of weight. There was a family history of bowel cancer, however, the decedent had no significant medical history. On external examination the decedent appeared older than his stated age, cachectic with moderate scleral jaundice. Changes of early decomposition were noted. The most striking external feature was the presence of copious amounts of fresh blood draining from the anus covering his buttocks and inner thighs (Fig. 2). On internal examination, the most significant finding was a blood filled rectum associated with a large (60 9 80 mm) ulcerated carcinoma at the recto-anal verge which had infiltrated through the full thickness of the rectum (Fig. 3). Metastatic deposits were noted in the liver (Fig. 4) which weighed 5,551 g, lung, lymph nodes, and left sixth rib. These were confirmed histologically to be metastatic deposits of moderately well differentiated adenocarcinoma. Death was attributed to hemorrhage from a rectal adenocarcinoma exacerbated by end stage metastatic liver disease.

OP38 Accounting for Non-Uptake of Bowel Cancer Screening: A Qualitative Study

BackgroundSince being established in 2006, the English NHS Bowel Cancer Screening Programme (NHS BCSP) offers the faecal occult blood (FOB) test to adults aged 60 – 74. This bowel cancer...

Bowel cancer in a 17 year old: what could be the reason?

Inherited conditions predisposing to early onset bowel cancer include the autosomal dominant conditions of Lynch Syndrome, Familial Adenomatous Polyposis and PTEN Hamartoma Tumor Syndrome, as well as the autosomal recessive condition of MUTYH-Associated Polyposis. There is also an increased risk of early onset bowel cancer and other malignancies in individuals with biallelic mutations (homozygous or compound heterozygous) in the mismatch repair (MMR) genes. Screening recommendations are usually given to family members on the basis of the clinical diagnosis assisted by germline genetic testing for the proband and at-risk relatives. For an individual with very early onset bowel cancer, careful consideration of the pathology and wider attention to phenotypic features and/or their family history provide clues as to whether there may be an underlying genetic predisposition. These include: age at diagnosis; clinical examination; presence or absence of polyps; results of immunohistochemistry (IHC) for the MMR gene proteins +/- BRAF testing; tumour microsatellite instability (MSI) testing, and family history of bowel cancer or other syndrome related cancers. Sometimes, no clear conclusions can be reached about an underlying inherited mechanism, if any. We will present the case of BK, who was diagnosed with caecal cancer at the age of 17. A right hemi-colectomy demonstrated a moderately to poorly differentiated adenocarcinoma, with a 40% mucinous component and tumour infiltrating lymphocytes. No precursor lesion was identified, and no polyps were identified in the distal bowel or in the resected bowel. Three lymph nodes out of 32 were positive for adenocarcinoma. Staging was negative for distant metastatic disease. Adjuvant chemotherapy with FOLFOX was given. BK’s parents are second cousins. The only family history of cancer was a fifth-degree relative with bowel cancer. The results of genetic investigations will be presented, along with a reflection on the challenges for setting screening recommendations when two potentially at-risk relatives are severely intellectually delayed teenagers.

Determinants of polyp size in patients undergoing screening colonoscopy.

BackgroundPre-existing polyps, especially large polyps, are known to be the major source for colorectal cancer, but there is limited available information about factors that are associated with polyp size and polyp growth. We aim to determine factors associated with polyp size in different age groups.MethodsColonoscopy data were prospectively collected from 67 adult gastrointestinal practice sites in the United States between 2002 and 2007 using a computer-generated endoscopic report form. Data were transmitted to and stored in a central data repository, where all asymptomatic white (n = 78352) and black (n = 4289) patients who had a polyp finding on screening colonoscopy were identified. Univariate and multivariate analysis of age, gender, performance site, race, polyp location, number of polyps, and family history as risk factors associated with the size of the largest polyp detected at colonoscopy.ResultsIn both genders, size of the largest polyp increased progressively with age in all age groups (P < .0001). In subjects ≥ 80 years the relative risk was 1.55 (95% CI, 1.35-1.79) compared to subjects in the youngest age group. With the exception of family history, all study variables were significantly associated with polyp size (P < .0001), with multiple polyps (≥ 2 versus 1) having the strongest risk: 3.41 (95% CI, 3.29-3.54).ConclusionsIn both genders there is a significant increase in polyp size detected during screening colonoscopy with increasing age. Important additional risk factors associated with increasing polyp size are gender, race, polyp location, and number of polyps, with polyp multiplicity being the strongest risk factor. Previous family history of bowel cancer was not a risk factor.

48. Serrated adenoma of an ileal stoma: a case report

Background and aim Serrated adenomas have gained recent recognition as having malignant potential and being part of an alternative pathway to colorectal carcinoma. Typically described in the proximal colon there have been rare case reports of serrated adenomas occurring in the stomach, duodenum and pancreas. Here we report a case of a serrated adenoma occurring at the ileostomy site of a patient with no previous history of carcinoma. The serrated adenoma arose in a zone of colonic metaplasia of the ileostomy. Case report A 74-year-old gentleman noticed a mass on his stoma which had been increasing in size over the previous 12 months. The stoma was formed in the 1960s secondary to a colectomy for ulcerative colitis (tissue of the colectomy for pathological review was not available to us). The stoma was functioning well and he had no symptoms. There was no reported family history of bowel cancer. Pathological findings There was a 25 × 15 × 10 mm exophytic growth on the external surface of the stoma. Histology showed a polypoid tumour with features of serrated adenoma. The adjacent mucosa of the terminal ileum showed histological features of colonic metaplasia. Conclusions Carcinomas arising in ileostomy sites are extremely rare. One study reports forty-four such cases since 1969. 1 Thirty-one of these cases occurred in patients with underlying ulcerative colitis. Our finding of a serrated adenoma in an ileostomy raises the possibility that carcinomas arising in ileostomy sites could, in some cases, arise via the serrated adenoma pathway. The role of adjacent colonic metaplasia in the development of neoplasia is yet to be determined. Although carcinomas can arise without adjacent metaplasia it is interesting to note that in the study by Quah et al., carcinoma development at the ileostomy site in patients with ulcerative colitis had associated adjacent colonic metaplasia in approximately one-third of cases.

PTH-077 Screening colonoscopy in patients with a family history of colorectal cancer: time to tighten our practice?: Abstract PTH-077

<h3>Introduction</h3> With 18 weeks pathways as the maximum for NHS treatment, pressures on initial diagnostic intervention has increased enormously. Endoscopy is a key part of the gastroenterology service and is the main diagnostic tool for gastrointestinal cancers. At the same time busy units have now embraced the National Bowel cancer Screening programme, providing additional services and high quality through the Global Rating Scale. Increased service levels, and high demand for rapid investigation are focusing minds on efficient effective practice. In our departments we evaluate our practice and screening colonoscopy has been a recent area of analysis. <h3>Methods</h3> We retrospectively interrogated endoscopy databases in two typical district general hospitals. We selected out colonoscopic investigations with a “family history of colorectal cancer” as the only indication. Data on age, polyp detection, cancer detection, and site were recorded. A sampling of approximately 10% of the notes was undertaken to understand the indication, and reason for colonoscopy. These data were scrutinised against the gold standard British Society of Gastroenterology guidelines, and publications leading to this. Our population findings were compared using a χ² statistic. <h3>Results</h3> We analysed 298 colonoscopies, 49 patients (16%) had polyps detected, and 1 patient had a rectal cancer. Age ranged from 15 to 83 years old. 55 polyps were detected, 16 rectal, 23 sigmoid, 2 descending, 3 transverse, 6 ascending, and 5 caecal polyps. Modelling population finding from the BSG guidelines, we would expect a polyp detection rate of 24%. Our findings demonstrate a significantly different outcome, and confirms our practice or population is significantly different from the populations informing the guidelines. (χ² statistic 7.73, 1 degree of freedom, two tailed p=0.005). Twenty-four referral letters were assessed as an indicative sample of criteria leading to colonoscopy. Only 11 (46%) documented family history consistent with strict adherence to BSG guidelines, suggesting at least our practices contribute to the differing outcomes (Abstract 077). <h3>Conclusion</h3> Screening for a family history of bowel cancer detects significant numbers of adenomatous polyps and cancer at an earlier stage than symptomatic referral. In our population pathology was found in 17%, significantly lower than the populations informing current BSG guidelines. Strict adherence to BSG guidelines may reduce the colonoscopy workload by 33%, and free up 25 colonoscopy lists. These finding across 2 separate hospitals may indicate a wider application in other regions.

The naked fat sign

View Large Image Figure Viewer Download Hi-res image View Large Image Figure Viewer Download Hi-res image View Large Image Figure Viewer Download Hi-res image A general practitioner referred an asymptomatic 71-year-old woman for investigation of a persistently low ferritin of 43 μg/L (normal 45-250 μg/L). She had a history of aspirin use for atrial fibrillation and no family history of bowel cancer. The patient was enrolled in a trial in which a virtual colonoscopy (V3D, Viatronix, Stony Brook, NY) and an optical colonoscopy were performed on the same day. On virtual colonoscopy, a polyp was discovered near the ileocecal valve (A). The polyp was well circumscribed and of uniform very low–density on the CT image (B). Optical colonoscopy confirmed the presence of the polyp (C). The overlying mucosa appeared normal. Biopsy was performed and fat was seen to extrude through the denuded mucosa (D). No further action was taken and the marginally low ferritin was presumed to be secondary to inadequate dietary iron intake. View Large Image Figure Viewer Download Hi-res image View Large Image Figure Viewer Download Hi-res image

A prospective study to assess the value of MMP-9 in improving the appropriateness of urgent referrals for colorectal cancer

BackgroundBowel cancer is common and is a major cause of death. Most people with bowel symptoms who meet the criteria for urgent referral to secondary care will not be found to have bowel cancer, and some people who are found to have cancer will have been referred routinely rather than urgently. If general practitioners could better identify people who were likely to have bowel cancer or conditions that may lead to bowel cancer, the pressure on hospital clinics may be reduced, enabling these patients to be seen more quickly. Increased levels of an enzyme called matrix metalloproteinase 9 (MMP-9) have been found to be associated with such conditions, and this can be measured from a blood sample. This study aims to find out whether measuring MMP-9 levels could improve the appropriateness of urgent referrals for patients with bowel symptoms.MethodsPeople aged 18 years or older referred to a colorectal clinic will be asked to complete a questionnaire about symptoms, recent injuries or chronic illnesses (these can increase the level of matrix metalloproteinases) and family history of bowel cancer. A blood sample will be taken from people who consent to take part to assess MMP-9 levels, and the results of examination at the clinic and/or investigations arising from the clinic visit will be collected from hospital records. The accuracy of MMP-9 will be assessed by comparing the MMP-9 level with the resulting diagnosis. The combination of factors (e.g. symptoms and MMP-9 level) that best predict a diagnosis of malignancy (invasive disease or polyps) will be determined.DiscussionAlthough guidelines are in place to facilitate referrals to colorectal clinics, symptoms alone do not adequately distinguish people with malignancy from people with benign conditions. This study will establish whether MMP-9 could assist this process. If this were the case, measurement of MMP-9 levels could be used by general practitioners to assist in the identification of people who were most likely to have bowel cancer or conditions that may lead to bowel cancer, and who should, therefore, be referred most urgently to secondary care.

Extracolonic findings at virtual colonoscopy: implications for screening programs.

Virtual colonoscopy (VC) is an evolving technology proposed as a possible screening tool for colorectal cancer. In contrast to conventional colonoscopy, VC may detect extracolonic abdominal pathology. This may lead to unnecessary investigation of benign lesions, or may benefit the patient by identifying serious pathology at an early stage. The aim of this study was to assess the prevalence and characteristics of extracolonic pathology found in patients undergoing VC. A total of 100 patients aged > or = 55 yr, referred for colonoscopy for bowel symptoms or family history of bowel cancer, underwent VC. Axial views of the abdomen were reviewed prospectively by a single radiologist for extracolonic pathology. Patients with extracolonic abnormalities were referred to their local doctor or to a specialist clinic when appropriate. Case records were reviewed and treating doctors contacted to document subsequent investigations and procedures generated. Fifteen patients (15%) had extracolonic abnormalities detected. In four patients, the pathology had been diagnosed previously (umbilical hernia, gallbladder and renal calculi, 3.5-cm aortic aneurysm, ovarian cyst). Eleven patients had new abnormalities detected: ovarian cysts (three), liver cysts (two), uterine fibroids (two), gallstones (one), splenic calcifications (one), aortic aneurysm (one), and renal tumor (one). Two patients with ovarian cysts underwent surgery, and histology showed benign cysts. Extracolonic abnormalities are common at VC. Most are benign, but may lead to investigative and procedural costs. These data should be carefully evaluated in feasibility and cost-effectiveness studies on colorectal cancer screening using VC.