Familial Cancer

, Volume 12, Issue 2, pp 217–228 | Cite as

Prediction models in Lynch syndrome

  • Fay Kastrinos
  • Judith Balmaña
  • Sapna SyngalEmail author
Original Article


Prediction models for the identification of Lynch syndrome have been developed to quantify an individual’s risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider has the opportunity to assess an individual for Lynch syndrome. Prediction models offer a potentially feasible and useful strategy to systematically identify at-risk individuals, whether they are affected with colorectal cancer or not, and to help with management of the implications of molecular and germline test results. Given the complexity of diagnostic information currently available to clinicians involved in identifying and caring for patients with Lynch syndrome, prediction models provide a useful and complementary aid in medical decision-making. Systematic implementation of prediction models estimates should be considered in routine clinical care and at various stages of cancer risk assessment and prevention. In this manuscript, we review the main prediction models developed for Lynch syndrome, focus on their specific features and performance assessed in several validation studies, compare the models with other clinical and molecular strategies for the diagnosis of Lynch syndrome, and discuss their potential uses in clinical practice.


Lynch syndrome Prediction models PREMM1,2,6 MMRPro MMRPredict 



This work was supported by the National Cancer Institute: K07 CA151769-02 (FK), R01 CA132829 (SS) and K24 CA113433 (SS). Additional support from the Louis V. Gerstner, Jr. Scholars Program (FK).


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Fay Kastrinos
    • 1
    • 2
    • 7
  • Judith Balmaña
    • 3
  • Sapna Syngal
    • 4
    • 5
    • 6
    Email author
  1. 1.Herbert Irving Comprehensive Cancer CenterColumbia University Medical CenterNew YorkUSA
  2. 2.Division of Digestive and Liver DiseasesColumbia University Medical CenterNew YorkUSA
  3. 3.Department of Medical Oncology, Hospital Vall d’HebronUniversitat Autònoma de BarcelonaBarcelonaSpain
  4. 4.Population Sciences DivisionDana-Farber Cancer InstituteBostonUSA
  5. 5.Division of GastroenterologyBrigham and Women’s HospitalBostonUSA
  6. 6.Harvard Medical SchoolBostonUSA
  7. 7.Columbia University College of Physicians and SurgeonsNew YorkUSA

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