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Lynch syndrome – highlighting recent and upcoming activities

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Lynch syndrome (LS), is a dominantly inherited disorder that increases the risk of cancers, including colon, endometrial, stomach, ovarian, gastrointestinal, and others [1-3].  To reduce morbidity and mortality in relatives of Lynch syndrome individuals, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group, supported by CDC, found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer [4].  Additional organizational groups have also made this recommendation [5-9]. Implementation research is critical if we are to scale up our efforts to screen all individuals with colon cancer for Lynch syndrome, as well as for the identification of at-risk individuals through screening of first-degree relatives (cascade screening), and also for elimination of health disparities related to these activities.


Cancer MoonshotSM Blue Ribbon Panel has recommended that programs implement existing clinical guidelines for the testing of colorectal and endometrial cancers for specific markers to identify those with LS, with additional genetic testing and counselling in those found to have abnormal tumor testing.  First-degree relatives of these patients would then be given the opportunity to be screened, including appropriate genetic counseling. The Panel recommended a Lynch Syndrome Demonstration Project to advance cancer prevention, with the primary goals being to improve preventive care for individuals with LS and to develop models for cancer risk assessment and prevention [10].  The project would be carried out via established research networks.


March is Colon Cancer Awareness Month, and March 22 is Lynch Syndrome Hereditary Cancer Awareness Day. A number of recent and upcoming events and activities involving LS have/are taking place. 


On February 22 and 23, 2017, a workshop was held at NCI entitled Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome.  The Blue Ribbon Panel Report recommendations for cancer prevention and early detection in individuals at high risk for cancer were reviewed, and active discussion on health care delivery, gaps in current knowledge, and identification of resources needed to inform implementation were discussed.


Sessions throughout the 2-day workshop included 1) perspectives on hereditary susceptibility to cancer, 2) registries and universal screenings: opportunities and challenges in various settings, 3) LS testing approaches, 4) health care delivery: approaches to development, implementation and evaluation, and 5) a final brief session on setting short- and long-terms goals.  Some important comments were raised for consideration, including best methods for tumor testing (microsatellite instability, immunohistochemical, sequencing), whether to screen for all hereditary cancers, chemoprevention, learning from outside systems who are already involved in screening, and how to manage high demands for genetic counseling.


One of the speakers, Greg Feero, a Family Medicine practitioner from Maine, used a metaphor to impress how his state might not have the capacity to –  or have the same priorities for implementing LS screening – as some of the other states.  He asked the audience to picture themselves sitting on a beach, and suggested that, in this setting, the best tool for observing a school of colorful fish just offshore might be a snorkel.  He then brought his audience to a view of the earth from the moon, and pointed out that the snorkel may not be the most appropriate tool for viewing the fish from the moon or that it may require some adaptation.  Similarly, if we use the constructs within the Consolidated Framework for Implementation Research (CFIR) to identify inner and outer settings characteristics, then we might find successful implementation of screening for LS would require different strategies in a rural state compared to a state that has a more urban setting.


A second event this month included a substantial focus on LS screening and cascade testing.  The National Academy of Sciences, Engineering and Medicine’s (The Academies) Genomics and Population Health Action Collaborative (GPHAC) held a Leadership Meeting on February 24, 2017.  The GPHAC goal has been to explore opportunities for genetics and genomics-based research to improve public health, reduce health disparities, and promote genomic literacy.  A review of the first year’s activities of the Action Collaborative included both those of the Evidence and Implementation Working Groups with focus on existing evidence-based genomic applications for LS and hereditary breast and ovarian cancer (HBOC).  Slides from the meeting should be available soon through GPHAC website link above.


Coming up this month, there will be a webinar (March 22, 2017), entitled Expanding Lynch Syndrome Screening: From Research to Reality.  Presenters include David Chambers of the Implementation Science Team at NCI, and three other researchers and practitioners involved in Lynch syndrome, Heather Hampel, Greg Feero, and Debra Duquette.  The presentation will include a reflection of the experiences at the NCI-hosted workshop on Lynch syndrome, and will also discuss their experiences working on LS, including a review of the Lynch Syndrome Screening Network.


We will also be highlighting a new R2R Featured Partner in mid-March – a group of researchers from the Australian Institute of Health Innovation, who have been working on a project to achieve behavioral change for the identification and management of LS.  These researchers are answering implementation science research questions using the CFIR framework to understand and improve on system-level behaviors to improve the genetic referral rates of patients with colorectal cancer for LS identification.


It is expected that the effort of individuals and organizations already involved in Lynch syndrome, as well as the increased awareness through the Colorectal Cancer Awareness month and Lynch Syndrome day, and all of the activities and events highlighted here this month, will help to improve the lives of those who are directly affected with hereditary cancer syndromes.  Additionally, it is hoped that through the efforts of implementation research, there will be an increase in effective strategies at the health care delivery level as well as within public health systems.


1.            Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011;12. doi: 10.1016/s1470-2045(10)70265-5.

2.            Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96. doi: 10.1093/jnci/djh034.

3.            Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol. 2012;30(9):958-64. Epub 2012/02/15. doi: 10.1200/jco.2011.39.5590. PubMed PMID: 22331944; PubMed Central PMCID: PMCPMC3341109.

4.            Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. GenetMed. 2009;11(1):35-41. Epub 2009/01/07. doi: 10.1097/GIM.0b013e31818fa2ff. PubMed PMID: 19125126; PubMed Central PMCID: PMCPMC2743612.

5.            ACOG Practice Bulletin No. 147: Lynch syndrome. Obstet Gynecol. 2014;124(5):1042-54. Epub 2014/12/02. doi: 10.1097/01.aog.0000456325.50739.72. PubMed PMID: 25437740.

6.            Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology. 2014;147(2):502-26. Epub 2014/07/22. doi: 10.1053/j.gastro.2014.04.001. PubMed PMID: 25043945.

7.            Provenzale D, Gupta S, Ahnen DJ, Bray T, Cannon JA, Cooper G, et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. Journal of the National Comprehensive Cancer Network: JNCCN. 2016;14(8):1010-30. Epub 2016/08/09. PubMed PMID: 27496117.

8.            U.S. Department of Health and Human Services OoDPaHP. Healthy People 2020.

9.            Excellence NIfHaC. Molecular testing strategies for Lynch syndrome in people with colorectal cancer 2017. Available from

10.          Panel BR. Cancer Moonshot Blue Ribbon Panel Report 2016. Available from

11.          Rumilla K, Schowalter KV, Lindor NM, Thomas BC, Mensink KA, Gallinger S, et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn. 2011;13(1):93-9. Epub 2011/01/14. doi: 10.1016/j.jmoldx.2010.11.011. PubMed PMID: 21227399; PubMed Central PMCID: PMCPMC3069927.

12.          Aaltonen L, Johns L, Jarvinen H, Mecklin JP, Houlston R. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer
Res. 2007;13(1):356-61. Epub 2007/01/04. doi: 10.1158/1078-0432.ccr-06-1256. PubMed PMID: 17200375.

13.          Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348(10):919-32. Epub 2003/03/07. doi: 10.1056/NEJMra012242. PubMed PMID: 12621137.