Familial Cancer

, Volume 18, Issue 3, pp 317–325 | Cite as

Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting

  • Elizabeth V. Clarke
  • Kristin R. Muessig
  • Jamilyn Zepp
  • Jessica E. Hunter
  • Sapna Syngal
  • Louise S. Acheson
  • Georgia L. Wiesner
  • Susan K. Peterson
  • Kellene M. Bergen
  • Elizabeth Shuster
  • James V. Davis
  • Jennifer L. Schneider
  • Tia L. Kauffman
  • Marian J. Gilmore
  • Jacob A. Reiss
  • Alan F. Rope
  • Jennifer E. Cook
  • Katrina A. B. GoddardEmail author
Original Article


A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening). Those not referred directly were randomized to the intervention or control (usual care) arms. Control cases were observed for one year, then given information about LS screening. Patients who declined participation were followed through the medical record. Of 601 cases of CRC, 194 (32%) enrolled in our study and were offered LS screening, 43 (7%) were followed as a control group, 148 (25%) declined participation and 216 (36%) were ineligible [63 (10%) of which received prior selective screening]. Six and nine cases of LS were identified through the intervention and selective screening groups, respectively. Overall, a higher proportion of PMS2 variants were identified in the intervention (3/6, 50%) versus selective screening groups (2/9, 22%) (not statistically significant). Eighty-eight percent and 23% of intervention and control patients, respectively, received LS screening. No control patients were found to have LS. Systems-based approaches are needed to ensure we fully identify LS cases. The proportion of LS cases from this program was 4% of newly diagnosed cases of CRC, similar to other programs.


Genetics Colorectal cancer (CRC) DNA mismatch repair (MMR) genes 



This work was supported through grants by the National Cancer Institute: R01CA140377 (Goddard) and R01CA132829 (Syngal). The funding body had no role in the design of the study, collection and analysis of data or decision to publish. Dr. Syngal reports being a consultant for Myriad Genetics, Inc.

Compliance with ethical standards

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10689_2019_123_MOESM1_ESM.docx (195 kb)
Supplementary material 1 (DOCX 195 KB)


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  • Elizabeth V. Clarke
    • 1
  • Kristin R. Muessig
    • 1
  • Jamilyn Zepp
    • 1
  • Jessica E. Hunter
    • 1
  • Sapna Syngal
    • 3
  • Louise S. Acheson
    • 4
  • Georgia L. Wiesner
    • 5
  • Susan K. Peterson
    • 6
  • Kellene M. Bergen
    • 1
  • Elizabeth Shuster
    • 1
  • James V. Davis
    • 1
  • Jennifer L. Schneider
    • 1
  • Tia L. Kauffman
    • 1
  • Marian J. Gilmore
    • 1
  • Jacob A. Reiss
    • 1
  • Alan F. Rope
    • 2
  • Jennifer E. Cook
    • 1
  • Katrina A. B. Goddard
    • 1
    Email author
  1. 1.Center for Health ResearchKaiser Permanente NorthwestPortlandUSA
  2. 2.Northwest Permanente, Kaiser Permanente NorthwestPortlandUSA
  3. 3.Dana-Farber Cancer InstituteBrigham and Women’s Hospital and Harvard Medical SchoolBostonUSA
  4. 4.Case Western Reserve UniversityUniversity Hospitals Cleveland Medical CenterClevelandUSA
  5. 5.Vanderbilt Hereditary Cancer Program, Vanderbilt-Ingram Cancer CenterVanderbilt University Medical CenterNashvilleUSA
  6. 6.The University of Texas MD Anderson Cancer CenterHoustonUSA

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