Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients

Balaguer, Francesc; Balmañà, Judith; Castellví–Bel, Sergi; Steyerberg, Ewout W.; Andreu, Montserrat; Llor, Xavier; Jover, Rodrigo; Syngal, Sapna; Castells, Antoni

doi:10.1053/j.gastro.2007.10.042

Cited by 54 publications

(31 citation statements)

References 25 publications

(2 reference statements)

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“…However, because health care professionals were responsible for the clinical data provided, it is less likely that erroneous diagnoses were documented. Despite these shortcomings, the strong predictive effects as reported in our previous work using this study group (9) that have recently been validated in a population-based sample (20) are indicative that the information is likely to be reliable.…”

mentioning

confidence: 63%

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

Kastrinos

Stoffel

Balmañà

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background and Aims: Lynch syndrome is caused by germ-line mismatch repair gene mutations. We examined the phenotypic differences between MLH1 and MSH2 gene mutation carriers and whether mutation type (point versus large rearrangement) affected phenotypic expression. Methods: This is a cross-sectional prevalence study of 1,914 unrelated probands undergoing clinical genetic testing for MLH1 and MSH2 mutations at a commercial laboratory. Results: Fifteen percent (285 of 1,914) of subjects had pathogenic mutations (112 MLH1, 173 MSH2). MLH1 carriers had a higher prevalence of colorectal cancer (79% versus 69%, P = 0.08) and younger mean age at diagnosis (42.2 versus 44.8 years, P = 0.03) than MSH2 carriers. Forty-one percent of female carriers had endometrial cancer and prevalence was similar in both

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mentioning

confidence: 63%

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

Kastrinos

Stoffel

Balmañà

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Following validation of this model in an external population of patients with CRC, the authors suggest that if the model estimates a risk of deleterious mutation <5%, genetic studies should not be performed, whereas if the estimated risk is 5-19%, MSI and IHC should be performed. If the risk exceeds 20%, they suggest that MMR-associated genes should be studied directly [23].…”

Section: Predictive Modelsmentioning

confidence: 99%

TTD consensus document on the diagnosis and management of hereditary colorectal cancer

et al. 2010

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Colorectal cancer is the first cause of cancer in occidental countries if we consider both male and females tumours. In Spain, 26,000 new cases are diagnosed every year. The possibilities of cure are higher if the tumour is diagnosed early. One of the most important risk factors for colorectal cancer is inheritance. Some hereditary syndromes, such as familial adenomatous polyposis (FAP), increase the risk by almost 100% and at a young age. Other more prevalent syndromes, such Lynch syndrome, increase the risk 10-12 times more than in the general population. This article aims at summarising the most important aspects in hereditary colorectal cancer and to be a useful tool to oncologists who work with these patients and their families.

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“…Before being considered as useful in clinical practice, prognostic scores need to be validated, then implemented and ultimately adjusted to independent series. Such models should have enough performance and be simple so that they can be widely used at the bedside [15,16,17,18,19,20,21,22,23]. …”

Section: Discussionmentioning

confidence: 99%

“…As previously done [17,18,19,20,21], a 2 × 2 contingency table was used to estimate the performance of scores. Thus, and for each scoring system, we measured the rate of patients who died within 90 days among those allocated to the poor prognosis group and those assigned to the good prognosis group.…”

Section: Methodsmentioning

confidence: 99%

Individual Life Expectancy Estimation Using Validated Prognostic Scores for Patients with Cancer of Unknown Primary

Ferté

Penel²,

Bonneterre³

et al. 2010

Oncology

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Purpose: To implement 3 published prognostic scores in an independent set of patients with cancer of unknown primary (CUP), and compare their performance on individual life expectancy prediction. Patients and Method: The survival of 430 consecutive patients with CUP was measured after they had allocated to their prognostic group (good prognosis vs. poor prognosis) according to each prognostic score. Using a 2 × 2 contingency table, we measured the sensitivity, specificity, positive predictive value (PPV) and accuracy of each score in predicting individual outcome (survival <90 days or >180 days). Results: The median overall survival was 189 days (1–4,801 days). Survival was <90 days in 143/421 cases and >180 days in 208/413 cases. The three PPVs were within the same range for prediction of survival <90 days (from 43 to 49%) as well as for prediction of survival >180 days (from 70 to 80%), and underestimate individual life expectancy of 40–50% of the patients. None of the 3 scores appeared significantly better. Conclusion: The main finding of this retrospective analysis is that the published prognostic scores cannot be used for rational decision making.

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Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients

Cited by 54 publications

References 25 publications

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

TTD consensus document on the diagnosis and management of hereditary colorectal cancer

Individual Life Expectancy Estimation Using Validated Prognostic Scores for Patients with Cancer of Unknown Primary

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