Evidence map›Paper›PMID 35997715›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022

A validation of models for prediction of pathogenic variants in mismatch repair genes.

Cathy Shyr, Amanda L Blackford, Theodore Huang, Jianfeng Ke, Nofal Ouardaoui, Lorenzo Trippa, Sapna Syngal, Chinedu Ukaegbu, Hajime Uno, Khedoudja Nafa and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

24 authors.

Cathy ShyrDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.
Amanda L BlackfordDivision of Biostatistics and Bioinformatics, Johns Hopkins School of Medicine, Baltimore, MD.
Theodore HuangDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.
Jianfeng KeDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA; Department of Mathematical Sciences, Tsinghua University, Beijing, China.
Nofal OuardaouiDepartment of Computer Science, School of Engineering, Tufts University, Medford, MA.
Lorenzo TrippaDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.
Sapna SyngalCancer Genetics and Prevention Division, Dana-Farber Cancer Institute, Boston, MA; Division of Gastroenterology, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA.
Chinedu UkaegbuCancer Genetics and Prevention Division, Dana-Farber Cancer Institute, Boston, MA.
Hajime UnoDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA; McGraw/Patterson Center for Population Sciences, Dana-Farber Cancer Institute, Boston, MA.
Khedoudja NafaDepartment of Pathology and Laboratory Medicine, Molecular Diagnostic Service, Memorial Sloan Kettering Cancer Center, New York, NY.
Zsofia K StadlerClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Comprehensive Cancer Center, New York, NY; Niehaus Center for Inherited Cancer Genomics, Memorial Sloan Kettering Cancer Center, New York, NY.
Kenneth OffitClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Comprehensive Cancer Center, New York, NY; Niehaus Center for Inherited Cancer Genomics, Memorial Sloan Kettering Cancer Center, New York, NY.
Christopher I AmosInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX; Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX.
Patrick M LynchGastroenterology, Hepatology and Nutrition, University of Texas MD Anderson Cancer Center, Houston, TX.
Sining ChenNokia Bell Labs, Murray Hill, NJ.
Francis M GiardielloDepartment of Gastroenterology and Hepatology, Johns Hopkins University School of Medicine, Baltimore, MD.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia; Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia.
Melissa C SoutheyCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia; Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
Aung Ko WinCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Jane C FigueiredoDepartment of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
Danielle BraunDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA. Electronic address: dbraun@mail.harvard.edu.
Giovanni ParmigianiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
VectorP30CA006516 · NCI · DANA-FARBER CANCER INSTITUTE · PI A. Heather Eliassen · 1985 to 2026
$330.6M
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI LENNON, ANNE MARIE · 1993 to 2022
$54.6M
Training Program in Cancer EpidemiologyT32CA009001 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI A. Heather Eliassen, Meir Stampfer · 1985 to 2026
$17.3M
Data sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8M
Training Grant in Quantitative Sciences for Cancer ResearchT32CA009337 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI QUACKENBUSH, JOHN, TRIPPA, LORENZO · 1986 to 2025
$12.3M
SPORE in Bladder CancerP50CA221745 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI OSTROVNAYA, IRINA · 2018 to 2024
$11.8M
Validation and extension of the PREMM Model for mismatch repair gene mutationsR01CA132829 · NCI · DANA-FARBER CANCER INST · PI SYNGAL, SAPNA · 2008 to 2022
$5.6M
NCI NIH HHS P30 CA006516NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA062924NCI NIH HHS P50 CA221745NCI NIH HHS R01 CA132829NCI NIH HHS T32 CA009001NCI NIH HHS T32 CA009337NCI NIH HHS U01 CA167551
6 · The paper itself

Abstract

purposeModels used to predict the probability of an individual having a pathogenic homozygous or heterozygous variant in a mismatch repair gene, such as MMRpro, are widely used. Recently, MMRpro was updated with new colorectal cancer penetrance estimates. The purpose of this study was to evaluate the predictive performance of MMRpro and other models for individuals with a family history of colorectal cancer.

methodsWe performed a validation study of 4 models, Leiden, MMRpredict, PREMM

resultsMMRpro with additional tumor information (MMRpro+) and PREMM

conclusionMMRpro+ and PREMM

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairGerm-Line MutationHeterozygoteHumansMismatch Repair Endonuclease PMS2MutL Protein Homolog 1Mismatch Repair Endonuclease PMS2MutL Protein Homolog 1Colorectal cancerLynch syndromeMismatch repairModel combinationModel validation

Identifiers

PMID35997715
PMCPMC10312204

What OpenQuestion holds

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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.