Familial Risk Of Colorectal Cancer Research Articles

The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer

Family history is a strong predictor of colorectal cancer risk; however, a diagnosis of colorectal cancer among first-degree relatives has not been systematically investigated as a function of the colorectal cancer molecular subtypes related to tumor microsatellite instability (MSI) status. We investigated whether the observable familial colorectal cancer risks differed according to tumor MSI subtypes, stratified as MSI-High (>30% instability), MSI-Low (<30% instability), and MSS (no instability). Data from 3,143 population-based colorectal cancer cases from five institutions were assessed for family history according to the Amsterdam criteria and the Bethesda guidelines, age at diagnosis, sex, tumor location, and MSI status. The distribution of patient characteristics by MSI status was compared using polytomous logistic regression. Overall, 2.8% colorectal cancer cases met the Amsterdam criteria and 37% met the Bethesda guidelines. There were 14% MSI-High, 13% MSI-Low, and 73% MSS colorectal cancers. MSI-High (P<0.0001) and MSI-Low tumors (P=0.01) were more proximally located than MSS tumors. MSI-High tumors were more common among females (P<0.001). The highest proportion of MSI-High tumors occurred in cases<40 years of age whereas the age-dependent distribution of MSI-Low tumors was unchanged. MSI-High tumors showed a statistically significant association with increasing numbers of first-degree relatives with colorectal cancer (P=0.002); this association disappeared, however, when MSI-High cases meeting Amsterdam criteria were removed from the analysis. MSI-Low tumors did not show a similar association with family history of colorectal cancer. Familial risk associated with MSI-High tumors is primarily driven by the Amsterdam-criteria patients. MSI-Low tumors may represent a distinct subtype of colorectal cancer with respect to certain epidemiologic variables studied here.

Polymorphisms in DNA repair genes and familial colorectal cancer risk

22226 Background: Hereditary colorectal cancer (CRC) has been related to mutations in APC, mismatch repair genes and base excision repair genes, but little is known about the risk of developing CRC associated to common polymorphisms in these genes. We conducted a case control study to assess the risk of common polymorphisms in DNA repair genes in relation to hereditary CRC. Methods: A total of 278 cases with pathology-verified CRC were ascertained through a cancer family clinic: 35 HNPCC, 186 HNPCC-Like and 57 had other familial aggregation patterns (FACCR). The control population group (n=329) was a hospital-based reference population for a case-control study of sporadic CRC (Moreno V et al. Clin Cancer Res 2006; 12: 2101–8). Eleven common polymorphisms were studied: MLH1 (I219V, ic.453+79A>G; c.1668–19A>G), MSH2 (c.211+9C>G, c.2006–6T>C), OGG1 (S326C), MYH (G382D and Y165C), XRCC1 (Q399R and R194W) and ERCC2 (L751Q). Genotype frequencies were compared with logistic regression models using several inheritance models and haplotypes were estimated with the EM algorithm. Results: None of the polymorphisms was individually significantly associated with CRC. However, all 3 polymorphisms in MLH1 were in high linkage disequilibrium and showed an elevated risk, especially ic.453+79A>G in intron 5 (odds ratio per allele= 1.25; 95% CI: 0.99–1.58, P=0.056). The 3 variant alleles shared a common haplotype (G-G-G) with estimated frequency of 35% and an odds ratio of 1.31 (95% CI 1.02–1.69; P=0.037) in an additive model. Polymorphisms OGG1 S326C and MYH Y165C also showed increased risks that did not reach statistical significance. The analysis restricted to HNPCC cases showed greater associations with MHL1 (ic.453+79A>G and c.1668–19A>G) alleles [OR per allele of 2.05 (95% CI: 1.23–3.44; P=0.0047] and MSH2 alleles (c.2006–6T>C) OR=2.53 (95% CI: 1.32–4.88; P=0.0078). Similar high ORs were observed for cases carriers of germline mutations in mismatch repair genes. Conclusions: Although the overall impact of common polymorphisms in DNA repair genes in familial colorectal cancer etiology seems limited, MHL1, MSH2, OGG1 and MYH may harbor cancer susceptibility polymorphisms. No significant financial relationships to disclose.

How Accurately Do Patients Report Their Colonoscopy Results?

Background: Current colorectal cancer screening guidelines recommend that young (age <60) adenoma patients (and their first degree relatives) be treated as having an increased risk of colorectal cancer, and undergo colon surveillance more frequently than the general population. However, for such guidelines to be realized, patients themselves need to be accurately informed of their adenoma diagnosis. We conducted a pilot study to determine how accurately colonoscopy patients can report their results. Methods: Patients at a single institution aged 50-60 who underwent a colonoscopy in the previous year were mailed a survey and consent form to allow review of their medical records. Patients were asked whether they were told that they had a polyp, and if so, which terms were used to describe the polyp (options were adenoma, hyperplastic, benign, precancerous, and other). Two coders independently reviewed the colonoscopy and pathology reports to determine “true” polyp status. Results: Of 200 mailed surveys, 5 were returned as “wrong address”, 1 participant indicated that they were never colonoscoped, and 1 was intellectually impaired, leaving 193 eligible participants of whom 53 (27%) returned completed surveys. Medical records were reviewed for 46 patients. Of the 31 patients who did not self-report a polyp, 29 (93.5%) were verified with medical records as clear. Of the 15 who did self-report a polyp, 9 (60%) were verified (6 adenomas and 3 hyperplastic polyps). All of the patients incorrectly reporting a polyp had a biopsy taken during their procedure that was pathologically defined as “benign colonic mucosa”. Overall, 71% of patients reporting accurate results were given their results by the endoscopist vs. 38% of those incorrectly reporting their results (Chi sq. = 8.9; p = 0.031). Patient gender, education, and family history of colorectal cancer were not associated with accuracy of reporting. Conclusions: Patients aged <60 undergoing colonoscopy can accurately report the absence of a polyp, but only 60% accurately report the presence of a polyp. This appears to be due entirely to patients who undergo a biopsy that proves to be normal mucosa upon pathology review. These individuals who mistakenly report that they have a polyp were more likely to have been given their colonoscopy results by someone other than the endoscopist. We conclude that it may be particularly important to ensure that patients with negative biopsy results are provided with timely follow-up results so that they do not perpetuate an inaccurate polyp history, and by extension, an inaccurate personal and familial risk of colorectal cancer.

Bedeutung der Familienanamnese bei kolorektalem Karzinom*

To assess the familial risk of colorectal cancer among first-degree relatives of colorectal cancer patients, a tumour-related family history study was conducted in 1982-1988 on 184 patients (median age 60 [28-92] years). These family data were compared with the data recorded in the cancer register of the population of Basel. An enhanced risk among first-degree relatives was noted (relative risk: 1.8%; 95% confidence interval: 1.4-2.3). The enhanced risk was attributed exclusively to seven families involving 2-3 relatives each (the relative risk in these families being 34). In four of these seven families an autosomal dominant site-specific cancer of the colon (Lynch's syndrome I) was diagnosed. Hence, family case history of colorectal cancer patients enables the identification of relatives with a high risk for colorectal carcinoma.

Common variants in mismatch repair genes and risk of colorectal cancer

Background and aim:The mismatch repair (MMR) genes are in charge of maintaining genomic integrity. Mutations in the MMR genes are at the origin of a familial form of colorectal cancer...

Colorectal Cancer Risks in Relatives of Young-Onset Cases: Is Risk the Same Across All First-Degree Relatives?

During the last 15 years, several single-gene mendelian disorders have been discovered that might account for some of the familial aggregation detected in large population studies of colorectal cancer (CRC). Mutations in DNA mismatch repair (MMR) genes cause hereditary nonpolyposis colorectal cancer-Lynch syndrome, the most common of the recognized CRC-predisposition syndromes, in which one major feature is a young age for cancer onset. However, for young-onset microsatellite stable (MSS) CRC, the familial risk for CRC is unknown. Patients with CRC who were <50 years old were identified through Minnesota Cancer Surveillance System (MCSS) and Mayo Clinic, Rochester, MN. CRCs in which the DNA MMR function was deficient as evidenced by high level microsatellite instability and/or loss of expression of MMR gene product by immunostaining were excluded. A total of 278 probands (131 from MCSS; 147 from Mayo Clinic) were included. Data on 1862 relatives were collected, of whom 68 were found to have had CRC, and an additional 165 had primary cancers of other types. Compared with Surveillance Epidemiology and End Results program data, relatives of young-onset CRC probands had increased risks for CRC. This relative risk (RR) was increased among first-degree relatives (RR, 1.65; 95% confidence interval [CI], 1.29-2.07) and was greater for siblings (RR, 2.67; 95% CI, 1.50-4.41) than parents (RR, 1.5; 95% CI, 1.14-1.94). We studied 278 probands with young-onset MSS CRC. We determined that the RR for CRC was greatest in siblings, which is consistent with an autosomal recessive inheritance pattern.

The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care

The objective was to evaluate the effect of an assessment strategy using the computer decision support system (the GRAIDS software), on the management of familial cancer risk in British general practice in comparison with best current practice. The design included cluster randomised controlled trial, and involved forty-five general practice teams in East Anglia, UK. Randomised to GRAIDS (Genetic Risk Assessment on the Internet with Decision Support) support (intervention n=23) or comparison (n=22). Training in the new assessment strategy and access to the GRAIDS software (GRAIDS arm) was conducted, compared with an educational session and guidelines about managing familial breast and colorectal cancer risk (comparison) were mailed. Outcomes were measured at practice, practitioner and patient levels. The primary outcome measure, at practice level, was the proportion of referrals made to the Regional Genetics Clinic for familial breast or colorectal cancer that were consistent with referral guidelines. Other measures included practitioner confidence in managing familial cancer (GRAIDS arm only) and, in patients: cancer worry, risk perception and knowledge about familial cancer. There were more referrals to the Regional Genetics Clinic from GRAIDS than comparison practices (mean 6.2 and 3.2 referrals per 10 000 registered patients per year; mean difference 3.0 referrals; 95% confidence interval (CI) 1.2–4.8; P=0.001); referrals from GRAIDS practices were more likely to be consistent with referral guidelines (odds ratio (OR)=5.2; 95% CI 1.7–15.8, P=0.006). Patients referred from GRAIDS practices had lower cancer worry scores at the point of referral (mean difference −1.44 95% CI −2.64 to −0.23, P=0.02). There were no differences in patient knowledge about familial cancer. The intervention increased GPs' confidence in managing familial cancer. Compared with education and mailed guidelines, assessment including computer decision support increased the number and quality of referrals to the Regional Genetics Clinic for familial cancer risk, improved practitioner confidence and had no adverse psychological effects in patients. Trials are registered under N0181144343 in the UK National Research Register.

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated with familial cancer. We performed a large case-control association study within the EPICOLON project aimed at evaluating the sporadic and familial colorectal cancer (CRC) risk associated with ARLTS1 genetic variants. Whereas P131L and W149X did not seem to affect CRC risk, C148R did show, for the first time in CRC, statistically significant differences between cases and controls [odds ratio (OR) = 1.45, 95% confidence interval (95% CI) = 1.13-1.86, P = 0.003], sporadic cases and controls (OR = 1.59, 95% CI = 1.13-2.23, P = 0.007) and familial cases and controls (OR = 1.55, 95% CI = 1.10-2.19, P = 0.01) in agreement with a hypothetical moderate increase of the cancer risk linked to the C148R ARLTS1 variant, both in sporadic and familial CRC cases.

Screening Preferences of Patients at Familial Risk of Colorectal Cancer

Our primary objective was to assess the screening preferences of patients at familial risk of colorectal cancer. Asymptomatic subjects aged 18-75 with a single first-degree relative diagnosed with colorectal cancer (n = 48) or polyps (n = 52) were asked to identify a preferred screening strategy, test features influencing their choice, and level of interest in decision-making after reviewing a decision aid describing the pros and cons of currently recommended screening tests. Although both groups preferred colonoscopy, 40% of subjects with a family history of colorectal cancer and 48% of those with a family history of polyps preferred alternative strategies. Accuracy was the most commonly identified test feature influencing test preference. Most subjects (66%) felt that selection of screening test should be a patient dominant or shared process. We conclude that patients at familial risk of colorectal cancer have distinct screening preferences that often vary from current recommendations.

Explaining the Familial Colorectal Cancer Risk Associated with Mismatch Repair (MMR)-Deficient and MMR-Stable Tumors

There is a paucity of data quantifying the familial risk of colorectal cancer associated with mismatch repair (MMR)-deficient and MMR-stable tumors. To address this, we analyzed a population-based series of 1,042 colorectal cancer probands with verified family histories. Constitutional DNA from probands was systematically screened for MYH variants and those with cancers displaying microsatellite instability (MSI) for germ-line MMR mutations; diagnoses of familial adenomatous polyposis and juvenile polyposis were established based on clinical phenotype and mutational analysis. Familial colorectal cancer risks were enumerated from age-, sex-, and calendar-specific population incidence rates. Segregation analysis was conducted to derive a model of the residual familial aggregation of colorectal cancer. Germ-line predisposition to colorectal cancer was identified in 37 probands [3.4%; 95% confidence interval (95% CI), 2.4-4.6]: 29 with MLH1/MSH2 mutations, 2 with familial adenomatous polyposis, 1 with juvenile polyposis, and 5 with biallelic MYH variants. The risk of colorectal cancer in first-degree relatives of probands with MSI and MMR-stable cancers was increased 5.01-fold (95% CI, 3.73-6.59) and 1.31-fold (95% CI, 1.07-1.59), respectively. MSH2/MLH1 mutations were responsible for 50% of the overall excess familial risk and 80% of the risk associated with MSI cancers but 32% of the familial risk was unaccounted for by known loci. Genetic models based on major gene loci did not provide a better explanation of the residual familial aggregation than a simple polygenic model. The information from our analyses should be useful in quantifying familial risks in clinical practice and in the design of studies to identify novel disease alleles.

ARLTS1 variants and risk of colorectal cancer

The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis. As the first to evaluate the association between Cys148Arg and Trp149Stop and colorectal cancer (CRC) risk, we genotyped 611 cases with CRC (including 77 cases with a first-degree family history) and 539 controls recruited from the German DACHS study. No significant differences in the genotype frequencies of Cys148Arg and Trp149Stop were observed between cases and controls. However, we showed a non-significant increased risk of familial CRC for both variants (OR=1.40 and 1.45), indicating a possible role of ARLTS1 in familial CRC.

Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability

A high degree of microsatellite instability (MSI) in colorectal cancer (CRC) is a hallmark of hereditary non-polyposis colorectal cancer (HNPCC), caused by germline defects in the mismatch repair (MMR) genes. A low degree of instability (less than 30% of the microsatellites) is seen in a subset of tumors. To clarify the significance of this low degree of MSI phenotype, we studied the differences between patients with colorectal tumors with high-level, low-level and no MSI. Colorectal tumors with no (n=68) and low-level (n=18) MSI of patients clinically suspected of HNPCC were compared to colorectal tumors with high-level MSI (n=12) of patients that carry a pathogenic germline mutation in a MMR gene. Compared to tumors with no MSI, tumors with low-level MSI were classified more frequently as stage T3 or T4 (100% vs 68% respectively), and showed less immune response (P=0.02). No significant differences in familial CRC risk were found by comparing pedigrees of these two groups of tumors. Compared to the group of tumors with high-level MSI, the group of tumors with low-level MSI had a less suspicious family history, a higher percentage of lymph node metastasis (56 vs 17%), and less immune response. Thus, with respect to genetic risks, familial CRC can be divided into two groups: Tumors with high-level MSI and tumors with low-level or no MSI. However, tumors with low-level MSI show unfavorable pathological characteristics compared to tumors with no and tumors with high-level MSI. These differences suggest a distinct underlying biology of CRC with low-level MSI.

Screening colonoscopy in 40- to 50-year-old first-degree relatives of patients with colorectal cancer is efficient: a controlled multicentre study

Persons with a familial risk of colorectal cancer (CRC) account for about 25% of all CRC cases. The adenoma prevalence in relatives of CRC patients 50-60 years of age is 17-34%; data on younger individuals are scarce. Our aim was to prospectively define the adenoma prevalence in 40- to 50-year-old first-degree relatives of CRC patients compared to controls. CRC patients were identified via the regional cancer registry, and their 40- to 50-year-old first-degree relatives (risk group) were invited for screening colonoscopy. Additional probands and controls of the same age were recruited by newspaper articles and radio or television broadcastings. Using high-resolution video colonoscopy, each detected polyp was removed and histopathologically assessed. Each participant completed demographic and epidemiological questionnaires. Of 228 subjects in the risk group 36.4% had polypoid lesions compared to 20.9% of 220 controls (p<0.001). Forty-three (18.9%) subjects in the risk group had adenomas compared to 18 (8.2%) in the control group (p=0.001). High-risk adenomas (>10 mm and/or of villous type) were found in 12 persons in the risk group compared to 5 controls (not significant). In the risk group most lesions (52%) were located proximal to the sigmoid colon compared to 29% in controls. Subjects between 40-50 years with first-degree relatives with CRC demonstrate a significantly higher prevalence of adenomas than controls, with a tendency towards a more proximal location. These data support a screening colonoscopy in persons with familial risk already between 40 and 50 years.

Improving Knowledge of Familial Colorectal Cancer Risk Using the ACG Brochure

Purpose: Previously we have shown that only 49% of patients with a history of colorectal cancer (CRC) understood their family members' increased risk of CRC, and a significant number of these did not know appropriate screening recommendations. In addition, there was a significant disparity between Caucasian and African American patients' knowledge (DDW 2005). This is a follow-up of our first study, and was performed to test the impact of an educational brochure on the understanding of familial risk and screening recommendations. Methods: In phase 1 of this study, a 12 question telephone survey was administered to 254 CRC patients in the University of Chicago Cancer Registry. They were subsequently mailed a brochure developed by the American College of Gastroenterology, “Understanding Colorectal Cancer Screening: A Consumer Education Brochure.” In phase 2 of the study, these patients were re-surveyed 6 months later with the same instrument to test the ability of the brochure to improve understanding of family risk and current screening guidelines. Univariate and multivariate logistic regression was performed. Results: 202 patients (80%) participated in phase 2 of the study. Inter-phase reliability was excellent (r = 0.95). The perceived CRC risk for FDRs did not change in phase 2 (Wilcoxon rank test, p = 0.22), but knowledge of the correct age of CRC screening (within 5 y) improved after the intervention (43% v 56%, p = 0.007). The proportion of participants who told family they were at elevated risk increased, but the change was not significant. (p = .0.06), but the proportion of participants who told family members about CRC screening increased significantly (p < 0.001). In both univariate analysis and multivariate logistic regression, Caucasians and participants with a younger age at CRC diagnosis were associated with increased familial risk understanding in phase 1 and 2. In addition, age at diagnosis and higher educational attainment were associated with better knowledge of correct screening age for CRC in phase 2. Conclusions: The ACG CRC Brochure is effective at improving knowledge of age of screening and asking family to be screened, but is not effective at improving general knowledge about familial risk of CRC, and did not improve racial or educational disparities. More effective targeted interventions are needed to address the significant lack of understanding of familial CRC risk.

A Scoring System for the Strength of a Family History of Colorectal Cancer

Family history of colorectal cancer is associated with an increased risk for the disease, although there are many combinations of family history that are hard to correlate with risk status. A scoring system for family history of colorectal cancer was designed to make risk more readily quantifiable. A colonoscopy database was used to test the following points system: each first-degree relative with colorectal cancer = 3 points; each second-degree relative with colorectal cancer = 1 point. Families with one or more first-degree relative affected under 50 years of age = an extra 3 points. Families with one or more second-degree relative affected under 50 years of age = an extra 1 point. Families with multiple relatives on the same side of the family = an extra 3 points (first-degree relatives), 1 point (second-degree relatives), or 2 points (first-degree and second-degree relatives). Points were added and categories defined as follows: low risk, 1 to 4 points; medium risk, 5 to 7 points; high risk, 8 to 10 points; very high risk, >10 points. A control group of average-risk patients having screening colonoscopy was used. Categories were compared in number of adenomas, hyperplastic polyps, and cancers. The records of 992 patients were used to test the system. Mean adenomas per patient per group were 0.4 for controls, 1.0 for low risk, 1.0 for medium risk, 1.7 for high risk, and 1.7 for very high risk. Cancers per group were 2 of 196 for controls, 8 of 513 for low risk, 3 of 171 for medium risk, 3 of 84 for high risk, and 1 of 28 for very high risk. The score categories were combined to produce revised risk levels of low (score 1 to 7) and high (>7). Average adenomas per patient in the revised categories were 0.4 (control), 1.0 (low risk), and 1.7 (high risk). The odds ratio of having one to two adenomas was 1.73 (1.19-2.50, 95% confidence limits) in the low-risk group and 2.39 (1.41-4.01) in the high-risk group. Odds ratios for having three or more adenomas were 5.70 (2.44-13.32) in the low-risk group and 10.35 (3.97-26.97) in the high-risk group. In the two-category system proposed here of quantifying familial risk of colorectal cancer, patients having less than 8 points were at low risk and those with 8 or more were at high risk. Surveillance and chemoprevention protocols can be designed through use of these risk categories. A scoring system for family history of colorectal cancer can make risk assessment easier and facilitate both collaborative studies and patient triage into appropriate screening programs.

A Novel Educational Strategy to Enhance Internal Medicine Residents' Familial Colorectal Cancer Knowledge and Risk Assessment Skills

Internal medicine residents are deficient in their knowledge about familial colorectal cancer (CRC) and thus unable to comply with appropriate screening guidelines. The objective of this study was to evaluate the effectiveness of a mixed educational program that incorporates both a didactic lecture (DL) and interactive, case-based seminar (ICBS), plus distribution of a personal digital assistant (PDA)-based risk assessment tool. Internal medicine resident continuity care teams were randomly assigned to an intervention (9 teams; 43 residents) or control (11 teams; 39 residents) arm. Both groups participated in a DL addressing the current status of CRC screening for average, moderate, and high-risk groups. Intervention teams also participated in a 1-h pre-clinic ICBS that included vignettes about patients at moderate or high risk of CRC because of family history, following which they received the risk assessment tool by e-mail. Knowledge and clinical risk assessment skills were evaluated using pre/posttests, patient exit interviews, and chart audits. Baseline test scores were similar for both groups (intervention, 51%vs control, 54%; p= 0.35). Immediate post-ICBS scores (intervention group only) significantly increased to 82% (p < 0.001). Six-month post-ICBS scores declined for the intervention group but remained significantly higher than 6-month control group scores (63%vs 56%, p= 0.002), which were unchanged from baseline. No significant differences were observed with respect to family history-taking or documentation skills. A mixed educational program that incorporates both a DL and ICBS is more effective that the DL alone for increasing knowledge about familial CRC risk but may have limited influence on clinical risk assessment skills.

Familial relative risk of colorectal cancer: a population-based study

This study aimed to assess the familial relative risk for colorectal cancer (CRC) and its variation according to age and gender. A population-based family study was carried out in France, from 1993 to 1998, including 761 families. Familial CRC risks were estimated from a cohort analysis of the relatives. No obvious decrease in CRC risk was found with increasing age, except when either the proband, or the relative, were in the youngest age class. The effect of the relatives’ and probands’ ages on the CRC risk differed according to their gender. The cumulative risk of CRC increased at an earlier age in male relatives of probands younger than 60 years of age, than in female relatives. This result suggests that mechanisms specific to females, possibly interacting with genetic factors, explain the difference in the cumulative risks between families with male and female probands.

Colorectal cancer screening and familial risk: a survey of internal medicine residents' knowledge and practice patterns.

Risk stratification is essential to the appropriate use of colorectal cancer screening recommendations. The principal objective of this study was to assess the knowledge and screening behavior of internal medicine (IM) residents regarding familial colorectal cancer. We conducted a survey of IM residents in their second and third year of postgraduate training from two university-based programs (n = 127). The survey instrument assessed physician knowledge of screening recommendations and current practices for individuals with a family history of colorectal cancer, adenomatous polyps, familial adenomatous polyposis, and hereditary nonpolyposis colorectal cancer. The instrument also elicited data regarding familial risk assessment, documentation, and notification of at-risk family members. Eighty-one IM eligible residents (81%) completed the survey. Most respondents identified a family history of colorectal cancer as an important factor in assessing colorectal cancer risk and appropriately implemented relevant screening recommendations. However, for patients with a family history of adenomatous polyps diagnosed before age 60 yr, knowledge and adherence to recommendations advocating screening at age 40 was relatively poor. More importantly, for patients with familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, respondents lacked the necessary risk assessment skills and knowledge to appropriately implement current recommendations. There were no consistent differences in knowledge or screening behavior when stratified on the basis of program site or postgraduate year status. Many IM residents are deficient in their knowledge, risk assessment skills, and screening practices for patients at familial risk of colorectal cancer. Effective educational strategies that promote awareness regarding familial risk, risk assessment skills, and appropriate use of relevant screening guidelines are needed.

Colorectal cancer screening and familial risk: a survey of internal medicine residents’ knowledge and practice patterns

Objective Risk stratification is essential to the appropriate use of colorectal cancer screening recommendations. The principal objective of this study was to assess the knowledge and screening behavior of internal medicine (IM) residents regarding familial colorectal cancer. Methods We conducted a survey of IM residents in their second and third year of postgraduate training from two university-based programs (n = 127). The survey instrument assessed physician knowledge of screening recommendations and current practices for individuals with a family history of colorectal cancer, adenomatous polyps, familial adenomatous polyposis, and hereditary nonpolyposis colorectal cancer. The instrument also elicited data regarding familial risk assessment, documentation, and notification of at-risk family members. Results Eighty-one IM eligible residents (81%) completed the survey. Most respondents identified a family history of colorectal cancer as an important factor in assessing colorectal cancer risk and appropriately implemented relevant screening recommendations. However, for patients with a family history of adenomatous polyps diagnosed before age 60 yr, knowledge and adherence to recommendations advocating screening at age 40 was relatively poor. More importantly, for patients with familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, respondents lacked the necessary risk assessment skills and knowledge to appropriately implement current recommendations. There were no consistent differences in knowledge or screening behavior when stratified on the basis of program site or postgraduate year status. Conclusion Many IM residents are deficient in their knowledge, risk assessment skills, and screening practices for patients at familial risk of colorectal cancer. Effective educational strategies that promote awareness regarding familial risk, risk assessment skills, and appropriate use of relevant screening guidelines are needed.

Familial colorectal cancer (CRC) risk communication among colorectal adenoma (CRA) patients

Familial colorectal cancer (CRC) risk communication among colorectal adenoma (CRA) patients