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

Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis DNA Mismatch Repair / genetics Germ-Line Mutation / genetics Heterozygote Humans Mismatch Repair Endonuclease PMS2 / genetics MutL Protein Homolog 1 / genetics
Colorectal cancer Lynch syndrome Mismatch repair Model combination Model validation

Journal

Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831

Informations de publication

Date de publication:
10 2022
Historique:
received: 07 04 2022
revised: 30 06 2022
accepted: 01 07 2022
pubmed: 24 8 2022
medline: 12 10 2022
entrez: 23 8 2022
Statut: ppublish

Résumé

Models 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. We performed a validation study of 4 models, Leiden, MMRpredict, PREMM MMRpro with additional tumor information (MMRpro+) and PREMM MMRpro+ and PREMM

Identifiants

DOI: 10.1016/j.gim.2022.07.004 PMID: 35997715 PMC: PMC10312204
pubmed: 35997715
pii: S1098-3600(22)00841-3
doi: 10.1016/j.gim.2022.07.004
pmc: PMC10312204
mid: NIHMS1910759
pii:
doi:

Substances chimiques

Mismatch Repair Endonuclease PMS2 EC 3.6.1.3
MutL Protein Homolog 1 EC 3.6.1.3

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

2155-2166

Subventions

Organisme : NCI NIH HHS
ID : T32 CA009337
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA062924
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA132829
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA221745
Pays : United States
Organisme : NCI NIH HHS
ID : T32 CA009001
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA006516
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA167551
Pays : United States

Informations de copyright

Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of Interest G.P. is a cofounder and equity holder in Phaeno Inc., a member of the Scientific Advisory Board of Konica Minolta Precision Medicine, Inc (which includes Ambry Genetics and Invicro), and a consultant for Delfi Diagnostics and Foundation Medicine, Inc. D.B. and G.P. colead the BayesMendel lab, which develops and maintains the BayesMendel software package. This includes a variety of risk assessment tools including BRCAPRO, PancPRO, MelaPRO, MMRpro, and PanelPRO and is licensed for commercial use. All licensing revenues are used for software maintenance and upgrades. Neither BayesMendel lab leaders nor members derive personal income from BayesMendel licenses. D.B. and G.P. are coinventor of the Ask2me tool, which is commercially licensed. D.B.’s conflicts of interest are managed by Harvard T.H. Chan School of Public Health. S.S. has been a consultant for Myriad Genetics, Inc and has rights to the inventor portion of licensing revenues for the PREMM model. Z.K.S.’s immediate family member serves as a consultant in Ophthalmology for Alcon, Adverum Biotechnologies, Gyroscope Therapeutics Limited, Neurogene Inc, and REGENXBIO Inc, outside the submitted work. All other authors declare no conflicts of interest.

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Auteurs

Cathy Shyr (C)

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.

Amanda L Blackford (AL)

Division of Biostatistics and Bioinformatics, Johns Hopkins School of Medicine, Baltimore, MD.

Theodore Huang (T)

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.

Jianfeng Ke (J)

Department of Data Science, Dana-Farber Cancer Institute, Boston, MA; Department of Mathematical Sciences, Tsinghua University, Beijing, China.

Nofal Ouardaoui (N)

Department of Computer Science, School of Engineering, Tufts University, Medford, MA.

Lorenzo Trippa (L)

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.

Sapna Syngal (S)

Cancer 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 Ukaegbu (C)

Cancer Genetics and Prevention Division, Dana-Farber Cancer Institute, Boston, MA.

Hajime Uno (H)

Department of Data Science, Dana-Farber Cancer Institute, Boston, MA; McGraw/Patterson Center for Population Sciences, Dana-Farber Cancer Institute, Boston, MA.

Khedoudja Nafa (K)

Department of Pathology and Laboratory Medicine, Molecular Diagnostic Service, Memorial Sloan Kettering Cancer Center, New York, NY.

Zsofia K Stadler (ZK)

Clinical 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 Offit (K)

Clinical 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 Amos (CI)

Institute 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 Lynch (PM)

Gastroenterology, Hepatology and Nutrition, University of Texas MD Anderson Cancer Center, Houston, TX.

Sining Chen (S)

Nokia Bell Labs, Murray Hill, NJ.

Francis M Giardiello (FM)

Department of Gastroenterology and Hepatology, Johns Hopkins University School of Medicine, Baltimore, MD.

Daniel D Buchanan (DD)

Colorectal 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 Hopper (JL)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.

Mark A Jenkins (MA)

Centre 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 Southey (MC)

Cancer 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 Win (AK)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.

Jane C Figueiredo (JC)

Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.

Danielle Braun (D)

Department 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 Parmigiani (G)

Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA.

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Classifications MeSH

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questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › A validation of models for prediction of...
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questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A validation of models for prediction of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines MutL › Mismatch repair endonuclease PMS2 › A validation of models for prediction of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines MutL › Protéine-1 homologue de MutL › A validation of models for prediction of...