Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology

Provenzale, Dawn; Gupta, Samir; Ahnen, Dennis J.; Bray, Travis; Cannon, Jamie A.; Cooper, Gregory S.; David, Donald S.; Early, Dayna S.; Erwin, Deborah O.; Ford, James M.; Giardiello, Francis M.; Grady, William M.; Halverson, Amy L.; Hamilton, Stanley R.; Hampel, Heather; Ismail, Mohammad K.; Klapman, Jason; Larson, David W.; Lazenby, Audrey J.; Lynch, Patrick M.; Mayer, Robert J.; Ness, Reid M.; Regenbogen, Scott E.; Samadder, N. Jewel; Shike, Moshe; Steinbach, Gideon; Weinberg, David S.; Dwyer, Mary A.; Darlow, Susan

doi:10.6004/jnccn.2016.0108

Cited by 192 publications

(157 citation statements)

References 66 publications

Supporting

Mentioning

153

Contrasting

Unclassified

Order By: Relevance

“…However, as current guidelines do not recommend a single age cutoff for EC-based LS screening, 1,54,57,58 further investigation would be needed to shed light on this.…”

Section: Discussionmentioning

confidence: 99%

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco

D’Andrea

Panić

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."Methods: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.Results: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with agetargeted programs with lower age thresholds.Conclusion: Universal or o70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world." Genet Med advance online publication 4 January 2018Key Words: colorectal cancer; cost-effectiveness; Lynch syndrome; screening program; systematic review INTRODUCTIONLynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC), accounting for about 3% of newly diagnosed cases, and results from a mutation in one of the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2). As LS is associated with an increased risk of colorectal, endometrial, and other cancers, it is important to identify both the probands and their family members. 1 In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. 2 The working group declared that there is a moderate certainty that this would provide moderate population benefit, but it did not recommend a specific genetic testing strategy among the several examined, nor did it deal with implementation issues. 2 Thereafter the US Department of Health and Human Services adopted the following as a Healthy People 2020 developmental objective: 3 "Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes)."Although genomic information has the potential to improve the delivery of patient-centered care through tailored preventive, diagnostic, and treatment strategies, there is a considerable gap between discoveries in genomics research and the translation of these findings into genetic services that benefit patients. 4,5 A previous study highl...

show abstract

“…However, as current guidelines do not recommend a single age cutoff for EC-based LS screening, 1,54,57,58 further investigation would be needed to shed light on this.…”

Section: Discussionmentioning

confidence: 99%

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco

D’Andrea

Panić

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

“…Vasen et al [27] demonstrated that the 10-year cumulative risk of metachronous CRC was lower in patients with an endoscopic surveillance interval of 1–2 years than in patients with an interval of 2–3 years, and most guidelines recommended endoscopic surveillance for CRC every 1–2 years in Lynch syndrome patients [1, 3, 4]. When determining the endoscopic surveillance interval, the dwell time of adenoma or CRC should be considered.…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of metachronous CRC according to different surgical procedures has been demonstrated by previous studies, and the 10-year cumulative risk for metachronous CRC was relatively higher in patients undergoing SGC than in patients undergoing STC despite close endoscopic surveillance [8-10]. Therefore, some guidelines and previous reports have recommended STC, rather than SGC, as the primary treatment for initial CRC in Lynch syndrome patients [3, 4, 10, 11]. On the other hand, previous reports demonstrated that bowel function was significantly worse in patients after STC than after SGC, but general quality of life (QOL) after surgery did not differ significantly between SGC and STC [12, 13].…”

Section: Introductionmentioning

confidence: 99%

“…Patients with this autosomal dominant syndrome, which accounts for up to 3% of newly diagnosed CRC [2], have a 30–74% lifetime risk of developing CRC by the age of 70 years [3]. Most guidelines recommend endoscopic screening for CRC every 1–2 years, starting at the age of 20–25 years [1, 3, 4], because previous reports have demonstrated that colonoscopy reduced the incidence of CRC and contributed to improved CRC-associated mortality in Lynch syndrome patients [5-7]. Surgical management should be considered for patients with premalignant polyps or malignant lesions that cannot be removed by colonoscopy.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Feasibility of Segmental Colectomy Followed by Endoscopic Surveillance as a Treatment Strategy for Colorectal Cancer Patients with Lynch Syndrome

et al. 2017

View full text Add to dashboard Cite

Background: Initial surgical procedures for colorectal cancer (CRC) patients with Lynch syndrome remain controversial. This study assessed the validity of segmental colectomy (SGC) followed by endoscopic surveillance as a treatment strategy for CRC patients with Lynch syndrome. Methods: Among consecutive patients who underwent surgery for primary CRC between April 1985 and December 2014, 49 patients were observed to have germline mutations in a mismatch repair gene, and 38 patients who underwent SGC followed by periodic endoscopic surveillance at our institution were evaluated for metachronous CRC, need for secondary surgery, and the details of endoscopic surveillance. Results: Of the 38 patients who underwent SGC followed by periodic endoscopic surveillance at our institution, 6 (15.8%) patients showed metachronous CRC, 3 (7.9%) patients underwent endoscopic resection, and the other 3 patients (7.9%) underwent secondary surgery. The dispersion of the endoscopic surveillance interval was significantly greater in patients with metachronous CRC (364 ± 332.9 days) than in those without metachronous CRC (370 ± 129.7 days; p < 0.001). Conclusions: SGC followed by annual endoscopic surveillance was feasible as a treatment strategy for CRC patients with Lynch syndrome, because the incidence of metachronous CRC and the need for secondary surgery were low. Annual and periodic endoscopic surveillance might be essential for early detection of metachronous CRC and prevention of secondary surgery because of metachronous CRC in CRC patients with Lynch syndrome after SGC.

show abstract

“…In families with classic FAP, endoscopic evaluation should begin at age of 12-14 years and be continued lifelong in mutation carriers. Regular physical examination and screening via CT scans or MRI for extracolonic manifestations should also start early in life or as soon as colorectal polyposis is diagnosed [82].…”

Section: Lynch Syndrome and Familial Adenomatous Polyposis Syndromementioning

confidence: 99%

Treatment Strategies in Colorectal Cancer

Daaboul¹,

El‐Sibai²

2018

Colorectal Cancer - Diagnosis, Screening and Management

View full text Add to dashboard Cite

Colorectal cancer is known to be one of the most commonly diagnosed cancers worldwide. It maintains a high mortality rate despite the newest methodological therapeutic approaches adopted in various academic establishments. The treatment modalities in colorectal cancer follow the degree of disease progression based on staging information. Earliest the cancer is diagnosed, the highest the possibility to be cured. Different strategies are being involved in treating colorectal cancer, starting from simple endoscopic polypectomy to remove a potential malignant polyp, to wider surgical intervention to get rid of a primary unmetastasized tumor, to other concomitant radio-chemotherapy combinations to reduce a bulky tumor rendering it operable, ending in more sophisticated chemotherapeutical regimens combined with targeted drugs to shrink the metastatic lesions and prolong survival rate. Different new treatments are being investigated with a sole aim to preserve the patient's quality of life and extend life span.

show abstract

Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology

Cited by 192 publications

References 66 publications

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Feasibility of Segmental Colectomy Followed by Endoscopic Surveillance as a Treatment Strategy for Colorectal Cancer Patients with Lynch Syndrome

Treatment Strategies in Colorectal Cancer

Contact Info

Product

Resources

About