Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Maija R.J. Kohonen-Corish; Finlay Macrae; Maurizio Genuardi; Stefan Aretz; Bharati Bapat; Inge T. Bernstein; John Burn; Richard G.H. Cotton; Johan T. Den Dunnen; Thierry Frebourg; Marc S. Greenblatt; Robert Hofstra; Elke Holinski-Feder; Ilkka Lappalainen; Annika Lindblom; Donna Maglott; Pål Møller; Hans Morreau; Gabriela Möslein; Rolf Sijmons; Amanda B. Spurdle; Sean Tavtigian; Carli M.J. Tops; Thomas K. Weber; Niels De Wind; Michael O. Woods

doi:10.1002/humu.21450

Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Maija R.J. Kohonen-Corish
, Finlay Macrae
, Maurizio Genuardi
, Stefan Aretz
, Bharati Bapat
, Inge T. Bernstein
, John Burn
, Richard G.H. Cotton
, Johan T. Den Dunnen
, Thierry Frebourg
, Marc S. Greenblatt
, Robert Hofstra
, Elke Holinski-Feder
, Ilkka Lappalainen
, Annika Lindblom
, Donna Maglott
, Pål Møller
, Hans Morreau
, Gabriela Möslein
, Rolf Sijmons

Amanda B. Spurdle, Sean Tavtigian, Carli M.J. Tops, Thomas K. Weber, Niels De Wind, Michael O. Woods

University of New South Wales
University of Melbourne
University of Florence
Institute for the Study and Prevention of Cancer
University of Bonn
University of Toronto
University of Copenhagen
Newcastle University
Genomic Disorders Research Centre
Leiden University
FHU G4 Génomique
University of Vermont
University of Groningen
Ludwig Maximilian University of Munich
European Molecular Biology Laboratory
Karolinska Institutet
National Institutes of Health
University of Oslo
HELIOS Kliniken Gruppe
Queensland Institute of Medical Research
University of Utah
SUNY Downstate Health Sciences University

Research output: Contribution to journal › Article

15 Citations (Scopus)

Abstract

The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program.

Original language	English
Pages (from-to)	491-494
Number of pages	4
Journal	Human Mutation
Volume	32
DOIs	https://doi.org/10.1002/humu.21450
Publication status	Published - 2011

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

CLASSIFICATION
COLORECTAL-CANCER
DATABASE
MISMATCH-REPAIR GENES
MLH1
MUTATIONS
SEQUENCE VARIANTS

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10.1002/humu.21450

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Kohonen-Corish, M. R. J., Macrae, F., Genuardi, M., Aretz, S., Bapat, B., Bernstein, I. T., Burn, J., Cotton, R. G. H., Den Dunnen, J. T., Frebourg, T., Greenblatt, M. S., Hofstra, R., Holinski-Feder, E., Lappalainen, I., Lindblom, A., Maglott, D., Møller, P., Morreau, H., Möslein, G., ... Woods, M. O. (2011). Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation, 32, 491-494. https://doi.org/10.1002/humu.21450

@article{85e98aa58549460690b6890146d9e39d,

title = "Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010",

abstract = "The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon\_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program.",

keywords = "CLASSIFICATION, COLORECTAL-CANCER, DATABASE, MISMATCH-REPAIR GENES, MLH1, MUTATIONS, SEQUENCE VARIANTS, CLASSIFICATION, COLORECTAL-CANCER, DATABASE, MISMATCH-REPAIR GENES, MLH1, MUTATIONS, SEQUENCE VARIANTS",

author = "Kohonen-Corish, \{Maija R.J.\} and Finlay Macrae and Maurizio Genuardi and Stefan Aretz and Bharati Bapat and Bernstein, \{Inge T.\} and John Burn and Cotton, \{Richard G.H.\} and \{Den Dunnen\}, \{Johan T.\} and Thierry Frebourg and Greenblatt, \{Marc S.\} and Robert Hofstra and Elke Holinski-Feder and Ilkka Lappalainen and Annika Lindblom and Donna Maglott and P{\aa}l M{\o}ller and Hans Morreau and Gabriela M{\"o}slein and Rolf Sijmons and Spurdle, \{Amanda B.\} and Sean Tavtigian and Tops, \{Carli M.J.\} and Weber, \{Thomas K.\} and \{De Wind\}, Niels and Woods, \{Michael O.\}",

year = "2011",

doi = "10.1002/humu.21450",

language = "English",

volume = "32",

pages = "491--494",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

}

Kohonen-Corish, MRJ, Macrae, F, Genuardi, M, Aretz, S, Bapat, B, Bernstein, IT, Burn, J, Cotton, RGH, Den Dunnen, JT, Frebourg, T, Greenblatt, MS, Hofstra, R, Holinski-Feder, E, Lappalainen, I, Lindblom, A, Maglott, D, Møller, P, Morreau, H, Möslein, G, Sijmons, R, Spurdle, AB, Tavtigian, S, Tops, CMJ, Weber, TK, De Wind, N & Woods, MO 2011, 'Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010', Human Mutation, vol. 32, pp. 491-494. https://doi.org/10.1002/humu.21450

TY - JOUR

T1 - Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

AU - Kohonen-Corish, Maija R.J.

AU - Macrae, Finlay

AU - Genuardi, Maurizio

AU - Aretz, Stefan

AU - Bapat, Bharati

AU - Bernstein, Inge T.

AU - Burn, John

AU - Cotton, Richard G.H.

AU - Den Dunnen, Johan T.

AU - Frebourg, Thierry

AU - Greenblatt, Marc S.

AU - Hofstra, Robert

AU - Holinski-Feder, Elke

AU - Lappalainen, Ilkka

AU - Lindblom, Annika

AU - Maglott, Donna

AU - Møller, Pål

AU - Morreau, Hans

AU - Möslein, Gabriela

AU - Sijmons, Rolf

AU - Spurdle, Amanda B.

AU - Tavtigian, Sean

AU - Tops, Carli M.J.

AU - Weber, Thomas K.

AU - De Wind, Niels

AU - Woods, Michael O.

PY - 2011

Y1 - 2011

N2 - The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program.

AB - The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program.

KW - CLASSIFICATION

KW - COLORECTAL-CANCER

KW - DATABASE

KW - MISMATCH-REPAIR GENES

KW - MLH1

KW - MUTATIONS

KW - SEQUENCE VARIANTS

KW - CLASSIFICATION

KW - COLORECTAL-CANCER

KW - DATABASE

KW - MISMATCH-REPAIR GENES

KW - MLH1

KW - MUTATIONS

KW - SEQUENCE VARIANTS

UR - http://hdl.handle.net/10807/56976

U2 - 10.1002/humu.21450

DO - 10.1002/humu.21450

M3 - Article

SN - 1059-7794

VL - 32

SP - 491

EP - 494

JO - Human Mutation

JF - Human Mutation

ER -

Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Abstract

UN SDGs

Keywords

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