Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according...
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Veröffentlicht in: | Familial cancer 2018-07, Vol.17 (3), p.361-370 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Until recently, no prediction models for Lynch syndrome (LS) had been validated for
PMS2
mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for
PMS2
mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and PREMM5. The area under the operator receiving characteristic curve (AUC) was compared between MMRpredict and PREMM5 for LS patients in general and for different LS genes specifically. Of 734 index patients, 83 (11%) were diagnosed with LS; 23
MLH1
, 17
MSH2
, 31
MSH6
and 12
PMS2
mutation carriers. Both prediction models performed well for
MLH1
and
MSH2
(AUC 0.80 and 0.83 for PREMM5 and 0.79 for MMRpredict) and fair for
MSH6
mutation carriers (0.69 for PREMM5 and 0.66 for MMRpredict). MMRpredict performed fair for
PMS2
mutation carriers (AUC 0.72), while PREMM5 failed to discriminate
PMS2
mutation carriers from non-mutation carriers (AUC 0.51). The only statistically significant difference between
PMS2
mutation carriers and non-mutation carriers was proximal location of colorectal cancer (77 vs. 28%, p |
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ISSN: | 1389-9600 1573-7292 |
DOI: | 10.1007/s10689-017-0039-1 |