Colorectal Cancer Screening Recommendations and Outcomes in Lynch Syndrome

Drogan, Christine; Kupfer, Sonia S.

doi:10.1016/j.giec.2021.08.001

Cited by 11 publications

(6 citation statements)

References 36 publications

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“…24 However, more recent data points to potential limitations with colonoscopy alone as a means of CRC prevention. [25][26][27] With a prevalence of 1:370 individuals, approximately 1,090,666 people in the U.S have a diagnosis of LS, meaning that there would be approximately 78,918 cases in Texas alone. 21 However, only 2-3% of individuals with LS have been identified, and only 9% of genetic testing for LS has been performed on individuals without a personal history of cancer.…”

Section: Background and Rationalementioning

confidence: 99%

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Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome

et al. 2023

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Objectives Lynch syndrome increases risks for colorectal and other cancers. Though published Lynch syndrome cancer risk-management guidelines are effective for risk-reduction, the condition remains under-recognized. The Cancer Genetics Program at an academic medical center implemented a population-based cancer family history screening program, Detecting Unaffected Individuals with Lynch syndrome, to aid in identification of individuals with Lynch syndrome. Methods In this retrospective cohort study, simple cancer family history screening questionnaires were used to identify those at risk for Lynch syndrome. Program navigators triaged and educated those who screened positive about hereditary cancer, and genetic counseling and testing services, offering genetic counseling if eligible. Genetic counseling was provided primarily via telephone. Genetic counselors performed hereditary cancer risk assessment and offered genetic testing via hereditary cancer panels to those eligible. Remote service delivery models via telephone genetic counseling and at-home saliva testing were used to increase access to medical genetics services. Results This program screened 212,827 individuals, over half of whom were considered underserved, and identified 133 clinically actionable genetic variants associated with hereditary cancer. Of these, 47 (35%) were associated with Lynch syndrome while notably, 70 (53%) were not associated with hereditary colorectal cancer. Of 3,344 patients offered genetic counseling after initial triage, 2,441 (73%) elected to schedule the appointment and 1,775 individuals (73%) completed genetic counseling. Among underserved patients, telephone genetic counseling completion rates were significantly higher than in-person appointment completion rates ( P < .05). While remote service delivery improved appointment completion rates, challenges with genetic test completion using at-home saliva sample collection kits were observed, with 242 of 1592 individuals (15%) not completing testing. Conclusion Population-based cancer family history screening and navigation can help identify individuals with hereditary cancer syndromes across diverse patient populations, but logistics of certain downstream service delivery models can impact outcomes.

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Section: Background and Rationalementioning

confidence: 99%

“… 24 However, more recent data points to potential limitations with colonoscopy alone as a means of CRC prevention. 25 - 27 …”

Section: Introductionmentioning

confidence: 99%

Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome

et al. 2023

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“…Surgical prevention is established for FAP and ulcerative colitis and the surgical procedure recommended as a gold standard therapy for these patients is restorative proctocolectomy with ileoanal J-pouch [ 102 , 103 , 104 , 105 ]. For HNPCC, the role of prophylactic surgery is less well defined, but some authors suggest prophylactic colectomy [ 102 , 103 ].…”

Section: Screening and Preventionmentioning

confidence: 99%

Colorectal Cancer: Current Updates and Future Perspectives

Marcellinaro,

Spoletini,

Grieco

et al. 2023

JCM

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Colorectal cancer is a frequent neoplasm in western countries, mainly due to dietary and behavioral factors. Its incidence is growing in developing countries for the westernization of foods and lifestyles. An increased incidence rate is observed in patients under 45 years of age. In recent years, the mortality for CRC is decreased, but this trend is slowing. The mortality rate is reducing in those countries where prevention and treatments have been implemented. The survival is increased to over 65%. This trend reflects earlier detection of CRC through routine clinical examinations and screening, more accurate staging through advances in imaging, improvements in surgical techniques, and advances in chemotherapy and radiation. The most important predictor of survival is the stage at diagnosis. The screening programs are able to reduce incidence and mortality rates of CRC. The aim of this paper is to provide a comprehensive overview of incidence, mortality, and survival rate for CRC.

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“…Chromoendoscopy probably does not improve the efficacy of colonoscopy in subjects with LS; on the other hand, this technique overdetects hyperplastic polyps [13]. To date, Artificial Intelligence (AI) has not improved the results of high-quality colonoscopy [14] . Recently, the detection of a diminutive adenoma by AI in a subject with LS was reported [15] .…”

Section: Four Crucial Pointsmentioning

confidence: 99%

The Role of Colonoscopy in the Management of Individuals with Lynch Syndrome: A Narrative Review

D’Angelo

Rega

Marone

et al. 2023

Cancers

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The history of Lynch syndrome changed definitively in 2000, when a study published in Gastroenterology demonstrated a significant reduction in mortality among individuals with Lynch syndrome who undergo regular endoscopic surveillance. As a consequence of this clinical evidence, all scientific societies developed guidelines, which highlighted the role of colonoscopy in the management of Lynch syndrome, especially for individuals at high risk of colorectal cancer. Over the years, these guidelines were modified and updated. Specialized networks were developed in order to standardize endoscopic surveillance programs and evaluate all the clinical data retrieved by the results of colonoscopies performed for both the screening and the surveillance of individuals with Lynch syndrome. Recent data show that the impact of colonoscopy (with polypectomy) on the prevention of colorectal cancer in individuals with Lynch syndrome is less significant than previously thought. This narrative review summarizes the current discussion, the hypotheses elaborated and the algorithms depicted for the management of individuals with Lynch Syndrome on the basis of the recent data published in the literature.

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Colorectal Cancer Screening Recommendations and Outcomes in Lynch Syndrome

Cited by 11 publications

References 36 publications

Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome

Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome

Colorectal Cancer: Current Updates and Future Perspectives

The Role of Colonoscopy in the Management of Individuals with Lynch Syndrome: A Narrative Review

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