Evidence map›Paper›PMID 15831578›Full record

SynthesisBiostatistics (Oxford, England)2005

Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard.

Sining Chen, Patrice Watson, Giovanni Parmigiani

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Biostatistics (Oxford, England), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. BayesMendel: an R environment for Mendelian risk prediction.Statistical applications in genetics and molecular biology · 2004
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Sining ChenSidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21205, USA. schen46@jhmi.edu
Patrice Watson
Giovanni Parmigiani
Sidney Kimmel Comprehensive Cancer Center · US

Funding

Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6M
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI LENNON, ANNE MARIE · 1993 to 2022
$54.6M
EDRN--THE HEREDITARY CANCER CLINICAL CENTERU01CA086389 · NCI · CREIGHTON UNIVERSITY · PI LYNCH, HENRY T · 2000 to 2010
$6.2M
Statistical Methods for Cancer GenesR01CA105090 · NCI · JOHNS HOPKINS UNIVERSITY · PI PARMIGIANI, GIOVANNI · 2004 to 2007
$997k
NCI NIH HHS 1U01CA86389NCI NIH HHS P30 CA006973NCI NIH HHS P30CA06973NCI NIH HHS P50 CA062924NCI NIH HHS P50CA62924NCI NIH HHS R01 CA105090NCI NIH HHS R01CA105090NCI NIH HHS U01 CA086389
6 · The paper itself

Abstract

Microsatellite instability (MSI) testing is a common screening procedure used to identify families that may harbor mutations of a mismatch repair (MMR) gene and therefore may be at high risk for hereditary colorectal cancer. A reliable estimate of sensitivity and specificity of MSI for detecting germline mutations of MMR genes is critical in genetic counseling and colorectal cancer prevention. Several studies published results of both MSI and mutation analysis on the same subjects. In this article we perform a meta-analysis of these studies and obtain estimates that can be directly used in counseling and screening. In particular, we estimate the sensitivity of MSI for detecting mutations of MSH2 and MLH1 to be 0.81 (0.73-0.89). Statistically, challenges arise from the following: (a) traditional mutation analysis methods used in these studies cannot be considered a gold standard for the identification of mutations; (b) studies are heterogeneous in both the design and the populations considered; and (c) studies may include different patterns of missing data resulting from partial testing of the populations sampled. We address these challenges in the context of a Bayesian meta-analytic implementation of the Hui-Walter design, tailored to account for various forms of incomplete data. Posterior inference is handled via a Gibbs sampler.

Indexed as

Germ-Line MutationAdaptor Proteins, Signal TransducingBayes TheoremBiometryCarrier ProteinsColorectal NeoplasmsGenomic InstabilityHumansMicrosatellite RepeatsMolecular Diagnostic TechniquesMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsSensitivity and SpecificityAdaptor Proteins, Signal TransducingCarrier ProteinsMLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear Proteins

Identifiers

PMID15831578
PMCPMC2274000
OpenAlexW2118436385

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.