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; Contributors to the InSiGHT-HVP Workshop

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 SijmonsAmanda B Spurdle, Sean Tavtigian, Carli M J Tops, Thomas K Weber, Niels de Wind, Michael O Woods, Contributors to the InSiGHT-HVP Workshop

16 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	32
Udgave nummer	4
Sider (fra-til)	491-4
Antal sider	4
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.21450
Status	Udgivet - 2011

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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., ... Contributors to the InSiGHT-HVP Workshop (2011). Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation, 32(4), 491-4. https://doi.org/10.1002/humu.21450

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 & Contributors to the InSiGHT-HVP Workshop 2011, 'Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010', Human Mutation, bind 32, nr. 4, s. 491-4. https://doi.org/10.1002/humu.21450

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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 = "Colonic Neoplasms, Databases, Genetic, Genes, Neoplasm, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, Paris, United Nations",

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} and {Contributors to the InSiGHT-HVP Workshop}",

note = "{\textcopyright} 2011 Wiley-Liss, Inc.",

year = "2011",

doi = "10.1002/humu.21450",

language = "English",

volume = "32",

pages = "491--4",

journal = "Human Mutation",

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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

AU - Contributors to the InSiGHT-HVP Workshop

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 - Colonic Neoplasms

KW - Databases, Genetic

KW - Genes, Neoplasm

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genome, Human

KW - Humans

KW - Paris

KW - United Nations

U2 - 10.1002/humu.21450

DO - 10.1002/humu.21450

M3 - Journal article

C2 - 21387463

SN - 1059-7794

VL - 32

SP - 491

EP - 494

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

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