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Patrick M. Lynch

Individuals with a family history of colorectal cancer or colorectal adenomas have an increased risk for colorectal cancer. When no hereditary syndrome is evident, screening is based on empiric risk estimates. The risk is greatest for individuals with specific inherited cancer-predisposing disorders. When conditions such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer are diagnosed, specific neoplasm risk estimates can usually be performed based on advances in molecular genetics. These estimates lead to more straightforward and cost-effective approaches to surveillance and management. The National Comprehensive Cancer Center Network (NCCN) and other groups have provided detailed guidelines for evaluating patients based on recognition of clinical syndrome characteristics, followed by appropriate genetic counseling, genetic testing, and optimal surveillance. The NCCN guidelines are used as a frame of reference for this discussion of selected recent advances in human cancer genetics as they apply to clinical practice.

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Patrick M. Lynch

This article emphasizes the central role of tumor-based testing for microsatellite instability followed by performance of genetic counselor–driven germline mutation testing in hereditary nonpolyposis colorectal cancer (HNPCC). Suitably aggressive colorectal neoplasm surveillance is shown to be critical. Limitations of the evidentiary base for extracolonic screening are conceded, with some cautious suggestions for possible strategies notwithstanding the lack of data. Advances in chemoprevention have been made in both familial adenomatous polyposis (clinical trial data favoring eicosapentaenoic acid) and HNPCC (controversial aspirin data). For various reasons, however, no agent or combination of agents has yet come into routine use in either condition, with further trials underway or being designed for both conditions.

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Patrick M. Lynch

The 2013 NCCN Clinical Practice Guidelines in Oncology for Colorectal Cancer Screening address the evaluation and management of patients at risk of inherited susceptibility to colorectal cancer. These patients include the 2 broad categories of patients with familial adenomatous polyposis and its variants, and those with hereditary nonpolyposis colorectal cancer, or Lynch syndrome. This article provides a somewhat personal, yet hopefully evidence-based, approach to the questions of when to test individuals for inherited susceptibility, and how to do so. “When” can be taken to mean “under what circumstance” and “at what age”; this article attempts to speak to each sense of the term.

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Sean Dineen, Patrick M. Lynch, Miguel A. Rodriguez-Bigas, Sarah Bannon, Melissa Taggart, Colleen Reeves, Cathy Modaro, Michael Overman, George J. Chang, John M. Skibber and Y. Nancy You

Background: Improving the quality of health care is a national priority, and providing patient-centered care is one of the 6 key areas for quality improvement. In the setting of patients with young-onset colorectal cancer (CRC), appropriate genetic workup and testing for potential underlying inherited CRC syndromes is fundamental to patient-centered care. Lynch syndrome (LS) is the most common of these inherited syndromes, and current recommendations from the NCCN and other professional societies advocate universal screening for LS among young patients with CRC. However, practical implementation of these guidelines often falls short. Methods: We conducted a prospective quality improvement intervention trial to optimize universal screening for LS in young (age <50 years) patients, involving 356 eligible patients during the 12-month preintervention period and 299 patients during the postintervention. Results: Applying the Six Sigma conceptual framework, we demonstrated a significant increase in use of tumor-based molecular testing and subsequent confirmatory germline mutation testing for LS. This led to identification of more patients to be managed as having LS and of more first- and second-degree relatives to benefit from the testing results. Conclusions: This study demonstrated the successful application of a quality improvement conceptual framework for the universal adoption of molecular biomarker testing in patients with cancer, and for improving adherence to NCCN Clinical Practice Guidelines in Oncology for CRC Screening. As molecular and genetic testing is becoming increasingly common, we present a prototype study for improving the adoption of molecular studies and the provision of guideline-based patient-centered care.

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Randall W. Burt, James S. Barthel, Kelli Bullard Dunn, Donald S. David, Ernesto Drelichman, James M. Ford, Francis M. Giardiello, Stephen B. Gruber, Amy L. Halverson, Stanley R. Hamilton, Mohammad K. Ismail, Kory Jasperson, Audrey J. Lazenby, Patrick M. Lynch, Edward W. Martin Jr., Robert J. Mayer, Reid M. Ness, Dawn Provenzale, M. Sambasiva Rao, Moshe Shike, Gideon Steinbach, Jonathan P. Terdiman and David Weinberg

Overview Colorectal cancer (CRC) is the third most frequently diagnosed cancer in men and women in the United States. In 2009, an estimated 106,100 new cases of colon cancer and 40,870 new cases of rectal cancer will occur in the United States, and 49,920 people will die of colon and rectal cancers. Patients with lo-calized colon cancer have a 90% 5-year survival rate. CRC mortality can be reduced through early diagnosis and cancer prevention with polypectomy. Therefore, the goal of CRC screening is to detect cancer at an early, curable stage and to detect and remove clinically significant adenomas. Screening tests that can detect both early cancer and adenomatous polyps are encouraged, although the panel recognizes that patient preference and resource accessibility play a large role in test selection. Curent technology falls into 2 broad categories: structural and stool/fecal-based tests. Although some techniques are better established than others, panelists agreed that any screening is better than none. Structural Screening Tests Structural tests are able to detect both early cancer and adenomatous polyps using endoscopic or radiologic imaging. These have several limitations, including their relative invasiveness, the need for dietary preparation and bowel cleansing, and the time dedicated to the examination (typically a day). Endoscopic examinations require informed consent and sedation, and have related risks, including perforation and bleeding. Recently, a large cohort study of 53,220 Medicare patients between ages 66 and 95 years showed that risk for adverse events after colonoscopy increases with age. Colonoscopy Colonoscopy is the most complete...
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Randall W. Burt, Jamie A. Cannon, Donald S. David, Dayna S. Early, James M. Ford, Francis M. Giardiello, Amy L. Halverson, Stanley R. Hamilton, Heather Hampel, Mohammad K. Ismail, Kory Jasperson, Jason B. Klapman, Audrey J. Lazenby, Patrick M. Lynch, Robert J. Mayer, Reid M. Ness, Dawn Provenzale, M. Sambasiva Rao, Moshe Shike, Gideon Steinbach, Jonathan P. Terdiman, David Weinberg, Mary Dwyer and Deborah Freedman-Cass

Mortality from colorectal cancer can be reduced by early diagnosis and by cancer prevention through polypectomy. These NCCN Guidelines for Colorectal Cancer Screening describe various colorectal screening modalities and recommended screening schedules for patients at average or increased risk of developing colorectal cancer. In addition, the guidelines provide recommendations for the management of patients with high-risk colorectal cancer syndromes, including Lynch syndrome. Screening approaches for Lynch syndrome are also described.

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

This is a focused update highlighting the most current NCCN Guidelines for diagnosis and management of Lynch syndrome. Lynch syndrome is the most common cause of hereditary colorectal cancer, usually resulting from a germline mutation in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), or deletions in the EPCAM promoter. Patients with Lynch syndrome are at an increased lifetime risk, compared with the general population, for colorectal cancer, endometrial cancer, and other cancers, including of the stomach and ovary. As of 2016, the panel recommends screening all patients with colorectal cancer for Lynch syndrome and provides recommendations for surveillance for early detection and prevention of Lynch syndrome-associated cancers.

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Dawn Provenzale, Samir Gupta, Dennis J. Ahnen, Arnold J. Markowitz, Daniel C. Chung, Robert J. Mayer, Scott E. Regenbogen, Amie M. Blanco, Travis Bray, Gregory Cooper, Dayna S. Early, James M. Ford, Francis M. Giardiello, William Grady, Michael J. Hall, Amy L. Halverson, Stanley R. Hamilton, Heather Hampel, Jason B. Klapman, David W. Larson, Audrey J. Lazenby, Xavier Llor, Patrick M. Lynch, June Mikkelson, Reid M. Ness, Thomas P. Slavin Jr, Shajanpeter Sugandha, Jennifer M. Weiss, Mary A. Dwyer and Ndiya Ogba

The NCCN Guidelines for Colorectal Cancer (CRC) Screening outline various screening modalities as well as recommended screening strategies for individuals at average or increased-risk of developing sporadic CRC. The NCCN panel meets at least annually to review comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights summarize 2018 updates to the NCCN Guidelines, with a primary focus on modalities used to screen individuals at average-risk for CRC.

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Dawn Provenzale, Kory Jasperson, Dennis J. Ahnen, Harry Aslanian, Travis Bray, Jamie A. Cannon, Donald S. David, Dayna S. Early, Deborah Erwin, James M. Ford, Francis M. Giardiello, Samir Gupta, Amy L. Halverson, Stanley R. Hamilton, Heather Hampel, Mohammad K. Ismail, Jason B. Klapman, David W. Larson, Audrey J. Lazenby, Patrick M. Lynch, Robert J. Mayer, Reid M. Ness, M. Sambasiva Rao, Scott E. Regenbogen, Moshe Shike, Gideon Steinbach, David Weinberg, Mary A. Dwyer, Deborah A. Freedman-Cass and Susan Darlow

The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Colorectal Cancer Screening provide recommendations for selecting individuals for colorectal cancer screening, and for evaluation and follow-up of colon polyps. These NCCN Guidelines Insights summarize major discussion points of the 2015 NCCN Colorectal Cancer Screening panel meeting. Major discussion topics this year were the state of evidence for CT colonography and stool DNA testing, bowel preparation procedures for colonoscopy, and guidelines for patients with a positive family history of colorectal cancer.

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Samir Gupta, Dawn Provenzale, Scott E. Regenbogen, Heather Hampel, Thomas P. Slavin Jr, Michael J. Hall, Xavier Llor, Daniel C. Chung, Dennis J. Ahnen, Travis Bray, Gregory Cooper, Dayna S. Early, James M. Ford, Francis M. Giardiello, William Grady, Amy L. Halverson, Stanley R. Hamilton, Jason B. Klapman, David W. Larson, Audrey J. Lazenby, Patrick M. Lynch, Arnold J. Markowitz, Robert J. Mayer, Reid M. Ness, Niloy Jewel Samadder, Moshe Shike, Shajanpeter Sugandha, Jennifer M. Weiss, Mary A. Dwyer and Ndiya Ogba

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the management of patients with high-risk syndromes associated with an increased risk of colorectal cancer (CRC). The NCCN Panel for Genetic/Familial High-Risk Assessment: Colorectal meets at least annually to assess comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on genes newly associated with CRC risk on multigene panels, the associated evidence, and currently recommended management strategies.