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Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience

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Abstract

Background

Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC) and confers increased risk of other cancers. Identification of patients improves morbidity and mortality. Screening tumors for absent mismatch repair (MMR) protein expression by immunohistochemistry (IHC) is a recommended approach. Despite guidelines advocating universal screening, significant variation in clinical practice exists.

Aims/Methods

A retrospective study of two different IHC-based Lynch syndrome screening protocols at an urban, university hospital was performed. Outcomes from a “selective” screening strategy utilized from August 2007–July 2010 on CRC tumors from patients with high-risk features were compared with a “universal” strategy of screening all CRC tumors from July 2010–August 2013. Positively screened patients were referred for genetic counseling and offered germline testing.

Results

A total of 392 patients with CRC were screened: 107 selectively and 285 universally. The prevalence of Lynch syndrome was 3.1 %, with no difference by strategy. There was a trend (p = 0.06) toward fewer universally screened patients agreeing to genetic counseling compared with those selectively screened. Selective criteria failed to identify one of eight cases of Lynch syndrome from the universal group, though the universal strategy screened 166 additional tumors to find this additional patient.

Conclusions

Selective screening for Lynch syndrome has similar outcomes as universal screening in terms of identifying Lynch syndrome, despite screening far fewer patients. In addition, fewer eligible patients in our study agreed to undergo genetic counseling and germline testing than in prior studies. These lower rates may better reflect uptake of these services in clinical practice.

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Authors and Affiliations

  1. Department of Internal Medicine, University of California, San Francisco, 1701 Divisadero, Suite 120, San Francisco, CA, 94115, USA

    Trilokesh D. Kidambi

  2. Gastrointestinal Cancer Prevention Program, University of California, San Francisco, 1701 Divisadero, Suite 120, San Francisco, CA, 94115, USA

    Amie Blanco, Megan Myers, Peggy Conrad & Kate Loranger

  3. Division of Gastroenterology, University of California, San Francisco, 1701 Divisadero, Suite 120, San Francisco, CA, 94115, USA

    Jonathan P. Terdiman

  4. 505 Parnassus Avenue, Room 987, San Francisco, CA, 94143, USA

    Trilokesh D. Kidambi

Authors
  1. Trilokesh D. Kidambi
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  2. Amie Blanco
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  3. Megan Myers
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  4. Peggy Conrad
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  5. Kate Loranger
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  6. Jonathan P. Terdiman
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Correspondence to Trilokesh D. Kidambi.

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Kidambi, T.D., Blanco, A., Myers, M. et al. Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. Dig Dis Sci 60, 2463–2469 (2015). https://doi.org/10.1007/s10620-014-3234-z

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  • DOI: https://doi.org/10.1007/s10620-014-3234-z

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