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DESCRIPTION: The objectives of this expert review are: (1) to prepare clinicians to recognize the presentation and evidence-based risk factors for young adult-onset colorectal cancer (CRC), defined as CRC diagnosed in individuals 18 - <50 years of age; (2) to improve management for patients with young onset CRC. This review will focus on the following topics relevant to young adult-onset CRC: epidemiology and risk factors; clinical presentation; diagnostic and therapeutic management including options for colorectal and extra-colonic surgical intervention, chemotherapy and immune-oncology therapies; genetic testing and its potential impact on preimplantation genetics; fertility preservation; and cancer surveillance recommendations for these individuals and their family members. METHODS: The evidence reviewed in this manuscript is a summation of relevant scientific publications, expert opinion statements, and current practice guidelines. BEST PRACTICE ADVICE 1: With the rising incidence of people developing CRC before 50 years of age, diagnostic evaluation of the colon and rectum is encouraged for all patients, irrespective of age, who present with symptoms that may be consistent with CRC, including but not limited to: rectal bleeding, weight loss, change in bowel habit, abdominal pain, iron deficiency anemia. BEST PRACTICE ADVICE 2: Clinicians should obtain family history of colorectal and other cancers in first and second degree relatives of patients with young adult-onset CRC and discuss genetic evaluation with germline genetic testing either in targeted genes based on phenotypic presentation or in multiplex gene panels regardless of family history. BEST PRACTICE ADVICE 3: Clinicians should present the role of fertility preservation prior to cancer-directed therapy including surgery, pelvic radiation, or chemotherapy BEST PRACTICE ADVICE 4: Clinicians should counsel patients on the benefit of germline genetic testing and familial cancer panel testing in the pre-surgical period to inform which surgical options may be available to the patient with young adult-onset CRC BEST PRACTICE ADVICE 5: Clinicians should consider utilizing germline and somatic genetic testing results to inform chemotherapeutic strategies BEST PRACTICE ADVICE 6: Clinicians should offer hereditary CRC syndrome specific screening for CRC and extra-colonic cancers only to young adult-onset CRC patients who have a genetically or clinically diagnosed hereditary CRC syndrome. For patients with sporadic young adult-onset CRC, extra-colonic screening and CRC surveillance intervals are the same as for patients with older adult-onset CRC.
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Neoplasias Colorrectales , Síndromes Neoplásicos Hereditarios , Anciano , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/terapia , Pruebas Genéticas , Humanos , Tamizaje Masivo , Anamnesis , Adulto JovenRESUMEN
OBJECTIVE: To review and summarize the recently developed Canadian Association of Gastroenterology screening recommendations for patients with a family history of colorectal cancer (CRC) or adenoma from a family medicine perspective. QUALITY OF EVIDENCE: A systematic review and meta-analysis was performed to synthesize knowledge regarding family history and CRC. The Cochrane Central Register of Controlled Trials, MEDLINE, and EMBASE were searched with the following MeSH terms: colorectal cancers or neoplasms, screen or screening or surveillance, and family or family history. Known hereditary syndromes were excluded. The Grading of Recommendations Assessment, Development and Evaluation methodology was used to establish certainty in reviewed evidence. Most recommendations are conditional recommendations with very low-quality evidence. MAIN MESSAGE: Individuals who have 1 first-degree relative (FDR) with CRC or an advanced adenoma diagnosed at any age are recommended to undergo colonoscopy every 5 to 10 years starting at age 40 to 50 years or 10 years younger than the age at diagnosis of the FDR, although fecal immunochemical testing at an interval of every 1 to 2 years can be used. Individuals with FDRs with non-advanced adenomas or a history of CRC in second-degree relatives should be screened according to average-risk guidelines. Lifestyle modification can statistically significantly decrease risk of CRC and should be considered in all patients. CONCLUSION: These guidelines acknowledge the many factors that can increase an individual's risk of developing CRC and allow for judgment to be employed depending on the clinical scenario. Lifestyle advice already given to patients for weight, blood pressure, and heart disease management will reduce the risk of CRC if implemented, and this combined with more targeted screening for higher-risk individuals will hopefully be successful in decreasing CRC mortality in Canada.
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Adenoma/prevención & control , Colonoscopía/normas , Neoplasias Colorrectales/prevención & control , Detección Precoz del Cáncer/normas , Adenoma/genética , Adulto , Canadá , Neoplasias Colorrectales/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Anamnesis , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Medición de Riesgo , Factores de RiesgoRESUMEN
Should we adopt the recently published American Cancer Society (ACS) recommendations to screen adults at 45 years of age? The main reasons for adopting the recommendation include the increase of colorectal cancer (CRC) in the young, especially late-stage tumors. Screening at 45 years is also supported by predictive modeling, which the ACS employed using updated and improved models as compared to those previously used by the United States Preventive Services Task Force. Reasons against adopting include concerns with the models as well as diversion of scarce screening resources away from high-risk populations. Readers are provided with opposing viewpoints regarding the ACS recommendation.
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Colonoscopía/normas , Neoplasias Colorrectales/diagnóstico por imagen , Detección Precoz del Cáncer/normas , Tamizaje Masivo/normas , Factores de Edad , American Cancer Society , Colonoscopía/economía , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/prevención & control , Detección Precoz del Cáncer/economía , Detección Precoz del Cáncer/métodos , Humanos , Incidencia , Tamizaje Masivo/economía , Tamizaje Masivo/métodos , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Servicios Preventivos de Salud/normas , Estados UnidosAsunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Biomarcadores de Tumor/genética , Carcinoma Ductal Pancreático/genética , Neoplasias Colorrectales/genética , Pruebas Genéticas , Variación Genética , Heterocigoto , Neoplasias Pancreáticas/genética , Carcinoma Ductal Pancreático/etnología , Carcinoma Ductal Pancreático/patología , Carcinoma Ductal Pancreático/terapia , Neoplasias Colorrectales/etnología , Neoplasias Colorrectales/patología , Neoplasias Colorrectales/terapia , Predisposición Genética a la Enfermedad , Humanos , Neoplasias Pancreáticas/etnología , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/terapia , Fenotipo , Valor Predictivo de las Pruebas , Pronóstico , Medición de Riesgo , Factores de RiesgoRESUMEN
BACKGROUND AND AIMS: Since 1985, the American Society for Gastrointestinal Endoscopy (ASGE) has awarded grants for endoscopic-related research. The goals of this study were to examine trends in ASGE grant funding and to assess productivity of previous recipients of the ASGE grant awards. METHODS: This was a retrospective cohort analysis of all research grants awarded by the ASGE through 2009. Measures of academic productivity and self-assessment of the ASGE awards' impact on the recipients' careers were defined by using publicly available resources (eg, National Library of Medicine-PubMed) and administration of an electronic survey to award recipients. RESULTS: The ASGE awarded 304 grants totaling $12.5 million to 214 unique awardees. Funding increased 7.5-fold between 1985 and 1989 (mean $102,000/year) and between 2005 and 2009 (mean $771,000/year). The majority of awardees were men (83%), were at or below the level of assistant professor (82%), with a median of 3 years of postfellowship experience at the time of the award, and derived from a broad spectrum of institutions as measured by National Institutes of Health funding rank (median 26, interquartile range [IQR] 12-64). Nineteen percent had a master's degree in a research-related field. Awardees' median publications per year increased from 3.5 (IQR 1.2-9.0) before funding to 5.7 (IQR 1.8-9.5) since funding; P = .04, and median h-index scores increased from 3 (IQR 1-8) to 17 (IQR 8-26); P < .001. Multivariate analysis found that the presence of a second advanced degree (eg, masters or doctorate) was independently predictive of high productivity (odds ratio [OR] 2.92; 95% confidence interval [CI], 1.09-7.81). Among 212 unique grant recipients, 82 (40%) completed the online survey. Of the respondents, median peer-reviewed publications per year increased from 3.4 (IQR 1.9-5.5) to 4.5 (IQR 2.0-9.5); P = .17. Ninety-one percent reported that the ASGE grant had a positive or very positive impact on their careers, and 85% of respondents are currently practicing in an academic environment. Most of the grants resulted in at least 1 peer-reviewed publication (67% per Internet-based search and 81% per survey). CONCLUSIONS: The ASGE research program has grown considerably since 1985, with the majority of grants resulting in at least 1 grant-related publication. Overall academic productivity increased after the award, and the majority of awardees report a positive or very positive impact of the award on their careers. Medical professional societies are an important sponsor of clinical research.
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Investigación Biomédica , Gastroenterología , Apoyo a la Investigación como Asunto , Estudios de Cohortes , Eficiencia , Endoscopía Gastrointestinal , Femenino , Humanos , Masculino , National Institutes of Health (U.S.) , Edición , Investigadores , Estudios Retrospectivos , Sociedades Médicas , Estados UnidosRESUMEN
Background and study aims There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating properties of existing endoscopic severity indices for FAP. Methods We searched MEDLINE, EMBASE, and the Cochrane Library from inception to February 2023 to identify randomized controlled trials (RCTs) that utilized endoscopic outcomes or studies that evaluated the operating properties of endoscopic disease severity indices in FAP. Results A total of 134 studies were included. We evaluated scoring indices and component items of scoring indices, such as polyp count, polyp size, and histology. Partial validation was observed for polyp count and size. The most commonly reported scoring index was the Spigelman classification system, which was used for assessing the severity of duodenal involvement. A single study reported almost perfect interobserver and intra-observer agreement for this system. The InSIGHT polyposis staging system, which was used for assessing colorectal polyp burden, has been partially validated. It showed substantial interobserver reliability; however, the intra-observer reliability was not assessed. Novel criteria for high-risk gastric polyps have been developed and assessed for interobserver reliability. However, these criteria showed a poor level of agreement. Other scoring indices assessing the anal transition zone, duodenal, and colorectal polyps have not undergone validation. Conclusions There are no fully validated endoscopic disease severity indices for FAP. Development and validation of a reliable and responsive endoscopic disease severity instrument will be informative for clinical care and RCTs of pharmacological therapies for FAP.
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The roles of sex hormones such as estradiol, testosterone, and sex hormone-binding globulin (SHBG) in the etiology of lung and colorectal cancers in women, among the most common cancers after breast cancer, are unclear. This Mendelian randomization (MR) study evaluated such potential causal associations in women of European ancestry. We used summary statistics data from genome-wide association studies (GWASs) on sex hormones and from the Trøndelag Health (HUNT) Study and large consortia on cancers. There was suggestive evidence of genetically predicted 1-standard deviation increase in total testosterone levels being associated with a lower risk of lung non-adenocarcinoma (hazard ratio (HR) 0.60, 95% CI 0.37-0.98) in the HUNT Study. However, this was not confirmed by using data from a larger consortium. In general, we did not find convincing evidence to support a causal role of sex hormones on risk of lung and colorectal cancers in women of European ancestry.
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BACKGROUND: Per current guidelines, patients with a first-degree relative (FDR) with adenomas should get screened at age 40. Data on the prevalence of adenomas and advanced adenomas (AAs) in these patients are lacking. OBJECTIVE: To examine the prevalence of adenomas and AAs in 40- to 49-year-old individuals undergoing screening colonoscopy because of a family history (FH) of polyps and to compare these data with those of a control population of similar age. DESIGN: Retrospective cross-sectional study. SETTING: Tertiary care academic medical center and Veterans Affairs medical center. PATIENTS: Study subjects included all 40- to 49-year-old asymptomatic individuals undergoing initial screening colonoscopy at our institution from January 1, 2006, to June 1, 2009, because of an FDR with polyps. The control population consisted of all 40- to 49-year-old individuals who underwent their first colonoscopy during the same period because of abdominal pain, diarrhea, or constipation without an FH of polyps or colorectal cancer. INTERVENTION: Colonoscopy. MAIN OUTCOME MEASUREMENTS: The prevalence of adenomas of any size, AAs, and risk factors associated with adenomas. RESULTS: The prevalence of adenomas was greater in the FH of polyps group (n = 176) compared with the control sample (n = 178) (26.7% vs 13.5%; P = .002) but was not statistically greater for AAs (5.7% vs 3.4%; P = .3). After adjusting for confounders, FH of a polyp was associated with an increased prevalence of adenomas (odds ratio 2.8 [95% CI, 1.4-5.5]). LIMITATIONS: Limited data on polyp histology in FDRs and limited sample size. CONCLUSIONS: Among 40- to 49-year-old patients undergoing screening colonoscopy because of an FDR with polyps, the prevalence of adenomas was greater than in a control population. Prospective research is needed to quantify the prevalence of AAs in this group and to determine whether these individuals should undergo screening colonoscopy at age 40.
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Adenoma/epidemiología , Adenoma/patología , Neoplasias del Colon/epidemiología , Neoplasias del Colon/patología , Adenoma/genética , Adulto , Neoplasias del Colon/genética , Colonoscopía , Intervalos de Confianza , Estudios Transversales , Detección Precoz del Cáncer , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Prevalencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Per current guidelines, patients with a first-degree relative (FDR) with colorectal cancer (CRC) should get screened at least at age 40. Data about the prevalence of adenomas and advanced adenomas (AAs) in these patients are lacking. OBJECTIVE: To examine the prevalence of adenomas and AAs in 40- to 49-year-old individuals undergoing screening colonoscopy for family history of CRC. DESIGN: Retrospective chart review. PATIENTS: Asymptomatic patients 40 to 49 years of age undergoing their first screening colonoscopy at the University of Michigan during the period 1999 to 2009 because of an FDR with CRC. MAIN OUTCOME MEASUREMENTS: Prevalence of adenomas (any size), AAs, and risk factors associated with adenomas. RESULTS: Among 640 study patients, the prevalence of adenomas (any size) was 15.4% and 3.3% for AAs. Adenoma prevalence was lower if the FDR with CRC was younger than 60 years of age versus an FDR with CRC older than 60 years of age (12.4% vs 19%, P = .034). Male sex (odds ratio 2.6; 95% CI, 1.06-4.4) and advancing age (odds ratio 1.16; 95% CI, 1.03-1.31) were associated with adenomas. LIMITATIONS: Limited data on risk factor exposure and insufficient sample size to assess risk factors for AAs. CONCLUSIONS: Among 40- to 49-year-old patients undergoing screening colonoscopy because of an FDR with CRC, the prevalence of adenomas and AAs is low. Further research should determine whether these individuals have a higher prevalence of adenomas compared with average-risk individuals.
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Adenoma/epidemiología , Neoplasias Colorrectales/epidemiología , Adenoma/diagnóstico , Adulto , Colonoscopía , Neoplasias Colorrectales/diagnóstico , Familia , Femenino , Humanos , Masculino , Tamizaje Masivo , Michigan , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Importance: Up to 30% of patients with a diagnosis of colorectal cancer (CRC) present as an emergency (an intestinal obstruction, perforation, or emergency hospital admission) (OPE). There are limited data about the association of organized, population-based colorectal cancer screening with the rate of emergency presentations. Objective: To examine the association of CRC screening with OPE at cancer diagnosis and time trends in the rate of OPE after the start of organized CRC screening using a highly sensitive fecal occult blood test. Design, Setting, and Participants: A historical cohort study was conducted among 1861 individuals 52 to 74 years of age with a diagnosis of CRC from January 1, 2007, to December 31, 2015, who lived in Winnipeg, Manitoba, a province with universal health care and an organized CRC screening program. Statistical analysis was performed from January 22, 2019, to February 26, 2020. Exposures: Variables included prior CRC screening, era of diagnosis, cancer stage at diagnosis, tumor site in the colon, area level mean household income, primary care continuity of care, and comorbidity. Main Outcomes and Measures: The primary outcomes were defined as an OPE. Logistic regression was used to evaluate factors associated with OPE at CRC diagnosis. Trends over time were calculated using Joinpoint Regression. Results: From 2007 to 2015, 1861 individuals 52 to 74 years of age (1133 men; median age, 65.1 years [interquartile range, 60.0-70.3 years]) received a diagnosis of CRC in Winnipeg. Most individuals had good continuity of care and moderate comorbidities. Overall, 345 individuals (18.5%) had an OPE. The rate of emergency hospital admissions decreased significantly from 2007 (the start of the organized, province-wide CRC screening program) to 2015 (annual change, -7.1%; 95% CI, -11.3% to -2.8%; P = .01). There was no change in the rate of obstructions or perforations or stage IV CRCs. Individuals who were up to date for CRC screening were significantly less likely to receive a diagnosis of an OPE (odds ratio, 0.38; 95% CI, 0.28-0.50; P < .001). The results were similar after adding emergency department visits and stage IV CRC at diagnosis to the outcome. Conclusions and Relevance: This study suggests that the rate of emergency hospital admissions decreased over time for individuals who underwent CRC screening, but there was no change in the rate of obstructions and perforations. Individuals who were up to date for CRC screening were less likely to have a CRC diagnosis with an OPE.
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Neoplasias Colorrectales/diagnóstico , Detección Precoz del Cáncer/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Obstrucción Intestinal/epidemiología , Perforación Intestinal/epidemiología , Anciano , Colonoscopía/estadística & datos numéricos , Urgencias Médicas , Femenino , Humanos , Obstrucción Intestinal/etiología , Perforación Intestinal/etiología , Masculino , Manitoba/epidemiología , Persona de Mediana EdadRESUMEN
INTRODUCTION: Implementation of population-based colorectal cancer (CRC) screening programs should reduce disparities in participation in CRC screening. We estimated CRC screening rates in 2012 in Canada and assessed predictors of screening in provinces with and without well-established population-based screening programs. METHODS: We used data from the Canadian Community Health Survey for 2012 to calculate the prevalence of up-to-date CRC screening, defined as fecal occult blood testing (FOBT) within 2 years before the survey or flexible sigmoidoscopy or colonoscopy within 10 years before the survey, or both. Weighted proportions of individuals with up-to-date screening were calculated and logistic regression analysis performed to assess predictors of up-to-date CRC screening, including differences in participation by income level. RESULTS: The prevalence of up-to-date CRC screening among people 50-74 years of age in 2012 was 55.2%, ranging from 41.3% in the territories to 67.2% in the province of Manitoba. The rate for sigmoidoscopy or colonoscopy was 37.2% (highest in Ontario, at 43.3%), and for FOBT it was 30.1% (highest in Manitoba, at 51.7%). About 41% of those who had an FOBT also had a sigmoidoscopy or colonoscopy. Individuals in the highest income group were more likely than those in lower-income groups to be up to date with CRC screening, even in provinces with well-established population-based screening programs. INTERPRETATION: More than half of Canadians were up to date with CRC screening in 2012, but there were large differences among provinces. Differences by income group in provinces with population-based screening programs need particular attention.