Leiden Open Variation Database of the MUTYH gene

Astrid A Out; Carli M J Tops; Maartje Nielsen; Marjan M Weiss; Ivonne J H M van Minderhout; Ivo F A C Fokkema; Marie-Pierre Buisine; Kathleen Claes; Chrystelle Colas; Riccardo Fodde; Florentia Fostira; Patrick F Franken; Mette Gaustadnes; Karl Heinimann; Shirley V Hodgson; Frans B L Hogervorst; Elke Holinski-Feder; Kristina Lagerstedt-Robinson; Sylviane Olschwang; Ans M W van den Ouweland; Egbert J W Redeker; Rodney J Scott; Bruno Vankeirsbilck; Rikke Veggerby Grønlund; Juul T Wijnen; Friedrik P Wikman; Stefan Aretz; Julian R Sampson; Peter Devilee; Johan T den Dunnen; Frederik J Hes

doi:10.1002/humu.21343

Leiden Open Variation Database of the MUTYH gene

Astrid A Out, Carli M J Tops, Maartje Nielsen, Marjan M Weiss, Ivonne J H M van Minderhout, Ivo F A C Fokkema, Marie-Pierre Buisine, Kathleen Claes, Chrystelle Colas, Riccardo Fodde, Florentia Fostira, Patrick F Franken, Mette Gaustadnes, Karl Heinimann, Shirley V Hodgson, Frans B L Hogervorst, Elke Holinski-Feder, Kristina Lagerstedt-Robinson, Sylviane Olschwang, Ans M W van den OuwelandEgbert J W Redeker, Rodney J Scott, Bruno Vankeirsbilck, Rikke Veggerby Grønlund, Juul T Wijnen, Friedrik P Wikman, Stefan Aretz, Julian R Sampson, Peter Devilee, Johan T den Dunnen, Frederik J Hes

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

69 Citations (Scopus)

Abstract

The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.

Original language	English
Journal	Human Mutation
Volume	31
Issue	11
Pages (from-to)	1205-15
Number of pages	11
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.21343
Publication status	Published - 1 Nov 2010

Keywords

Adenomatous Polyposis Coli
Alternative Splicing
Amino Acid Sequence
Base Sequence
DNA
DNA Glycosylases
Databases, Genetic
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Humans
Molecular Sequence Data
Mutation
Netherlands
Protein Isoforms
Protein Structure, Tertiary

Access to Document

10.1002/humu.21343

Cite this

Out, A. A., Tops, C. M. J., Nielsen, M., Weiss, M. M., van Minderhout, I. J. H. M., Fokkema, I. F. A. C., Buisine, M.-P., Claes, K., Colas, C., Fodde, R., Fostira, F., Franken, P. F., Gaustadnes, M., Heinimann, K., Hodgson, S. V., Hogervorst, F. B. L., Holinski-Feder, E., Lagerstedt-Robinson, K., Olschwang, S., ... Hes, F. J. (2010). Leiden Open Variation Database of the MUTYH gene. Human Mutation, 31(11), 1205-15. https://doi.org/10.1002/humu.21343

@article{3135f3e3c3814e9f93066bed43687cbf,

title = "Leiden Open Variation Database of the MUTYH gene",

abstract = "The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.",

keywords = "Adenomatous Polyposis Coli, Alternative Splicing, Amino Acid Sequence, Base Sequence, DNA, DNA Glycosylases, Databases, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Molecular Sequence Data, Mutation, Netherlands, Protein Isoforms, Protein Structure, Tertiary",

author = "Out, {Astrid A} and Tops, {Carli M J} and Maartje Nielsen and Weiss, {Marjan M} and {van Minderhout}, {Ivonne J H M} and Fokkema, {Ivo F A C} and Marie-Pierre Buisine and Kathleen Claes and Chrystelle Colas and Riccardo Fodde and Florentia Fostira and Franken, {Patrick F} and Mette Gaustadnes and Karl Heinimann and Hodgson, {Shirley V} and Hogervorst, {Frans B L} and Elke Holinski-Feder and Kristina Lagerstedt-Robinson and Sylviane Olschwang and {van den Ouweland}, {Ans M W} and Redeker, {Egbert J W} and Scott, {Rodney J} and Bruno Vankeirsbilck and Gr{\o}nlund, {Rikke Veggerby} and Wijnen, {Juul T} and Wikman, {Friedrik P} and Stefan Aretz and Sampson, {Julian R} and Peter Devilee and {den Dunnen}, {Johan T} and Hes, {Frederik J}",

year = "2010",

month = nov,

day = "1",

doi = "10.1002/humu.21343",

language = "English",

volume = "31",

pages = "1205--15",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons Inc.",

number = "11",

}

Out, AA, Tops, CMJ, Nielsen, M, Weiss, MM, van Minderhout, IJHM, Fokkema, IFAC, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, PF, Gaustadnes, M, Heinimann, K, Hodgson, SV, Hogervorst, FBL, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, AMW, Redeker, EJW, Scott, RJ, Vankeirsbilck, B, Grønlund, RV, Wijnen, JT, Wikman, FP, Aretz, S, Sampson, JR, Devilee, P, den Dunnen, JT & Hes, FJ 2010, 'Leiden Open Variation Database of the MUTYH gene', Human Mutation, vol. 31, no. 11, pp. 1205-15. https://doi.org/10.1002/humu.21343

TY - JOUR

T1 - Leiden Open Variation Database of the MUTYH gene

AU - Out, Astrid A

AU - Tops, Carli M J

AU - Nielsen, Maartje

AU - Weiss, Marjan M

AU - van Minderhout, Ivonne J H M

AU - Fokkema, Ivo F A C

AU - Buisine, Marie-Pierre

AU - Claes, Kathleen

AU - Colas, Chrystelle

AU - Fodde, Riccardo

AU - Fostira, Florentia

AU - Franken, Patrick F

AU - Gaustadnes, Mette

AU - Heinimann, Karl

AU - Hodgson, Shirley V

AU - Hogervorst, Frans B L

AU - Holinski-Feder, Elke

AU - Lagerstedt-Robinson, Kristina

AU - Olschwang, Sylviane

AU - van den Ouweland, Ans M W

AU - Redeker, Egbert J W

AU - Scott, Rodney J

AU - Vankeirsbilck, Bruno

AU - Grønlund, Rikke Veggerby

AU - Wijnen, Juul T

AU - Wikman, Friedrik P

AU - Aretz, Stefan

AU - Sampson, Julian R

AU - Devilee, Peter

AU - den Dunnen, Johan T

AU - Hes, Frederik J

PY - 2010/11/1

Y1 - 2010/11/1

N2 - The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.

AB - The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.

KW - Adenomatous Polyposis Coli

KW - Alternative Splicing

KW - Amino Acid Sequence

KW - Base Sequence

KW - DNA

KW - DNA Glycosylases

KW - Databases, Genetic

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

KW - Netherlands

KW - Protein Isoforms

KW - Protein Structure, Tertiary

U2 - 10.1002/humu.21343

DO - 10.1002/humu.21343

M3 - Journal article

C2 - 20725929

SN - 1059-7794

VL - 31

SP - 1205

EP - 1215

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -

Leiden Open Variation Database of the MUTYH gene

Abstract

Keywords

Access to Document

Fingerprint

Cite this