Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Roberts, A; Nancarrow, D; Clendenning, M; Buchanan, DD; Jenkins, MA; Duggan, D; Taverna, D; McKeone, D; Walters, R; Walsh, MD; Young, BW; Jass, JR; Rosty, C; Gattas, M; Pelzer, E; Hopper, JL; Goldblatt, J; George, J; Suthers, GK; Phillips, K; Parry, S; Woodall, S; Arnold, J; Tucker, K; Muir, A; Drini, M; MacRae, F; Newcomb, P; Potter, JD; Pavluk, E; Lindblom, A; Young, JP

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Roberts, A

Nancarrow, D Clendenning, M Buchanan, DD

Jenkins, MA

Duggan, D Taverna, D McKeone, D Walters, R Walsh, MD Young, BW Jass, JR Rosty, C

Gattas, M Pelzer, E Hopper, JL Goldblatt, J George, J Suthers, GK Phillips, K Parry, S Woodall, S

Arnold, J Tucker, K Muir, A Drini, M MacRae, F Newcomb, P Potter, JD

Pavluk, E Lindblom, A Young, JP

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Publication Type:: Journal Article
Citation:: Familial Cancer, 2011, 10 (2), pp. 245 - 254
Issue Date:: 2011-06-01

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Field	Value	Language
dc.contributor.author	Roberts, A https://orcid.org/0000-0002-6429-6133	en_US
dc.contributor.author	Nancarrow, D	en_US
dc.contributor.author	Clendenning, M	en_US
dc.contributor.author	Buchanan, DD https://orcid.org/0000-0003-2225-6675	en_US
dc.contributor.author	Jenkins, MA https://orcid.org/0000-0002-8964-6160	en_US
dc.contributor.author	Duggan, D	en_US
dc.contributor.author	Taverna, D	en_US
dc.contributor.author	McKeone, D	en_US
dc.contributor.author	Walters, R	en_US
dc.contributor.author	Walsh, MD	en_US
dc.contributor.author	Young, BW	en_US
dc.contributor.author	Jass, JR	en_US
dc.contributor.author	Rosty, C https://orcid.org/0000-0001-7671-2651	en_US
dc.contributor.author	Gattas, M	en_US
dc.contributor.author	Pelzer, E	en_US
dc.contributor.author	Hopper, JL	en_US
dc.contributor.author	Goldblatt, J	en_US
dc.contributor.author	George, J	en_US
dc.contributor.author	Suthers, GK	en_US
dc.contributor.author	Phillips, K	en_US
dc.contributor.author	Parry, S	en_US
dc.contributor.author	Woodall, S https://orcid.org/0000-0002-9910-5560	en_US
dc.contributor.author	Arnold, J	en_US
dc.contributor.author	Tucker, K	en_US
dc.contributor.author	Muir, A	en_US
dc.contributor.author	Drini, M	en_US
dc.contributor.author	MacRae, F	en_US
dc.contributor.author	Newcomb, P	en_US
dc.contributor.author	Potter, JD https://orcid.org/0000-0001-5439-1500	en_US
dc.contributor.author	Pavluk, E	en_US
dc.contributor.author	Lindblom, A	en_US
dc.contributor.author	Young, JP	en_US
dc.date.issued	2011-06-01	en_US
dc.identifier.citation	Familial Cancer, 2011, 10 (2), pp. 245 - 254	en_US
dc.identifier.issn	1389-9600	en_US
dc.identifier.uri	http://hdl.handle.net/10453/130711
dc.description.abstract	Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9. © 2010 The Author(s).	en_US
dc.relation.ispartof	Familial Cancer	en_US
dc.relation.isbasedon	10.1007/s10689-010-9408-8	en_US
dc.subject.classification	Oncology & Carcinogenesis	en_US
dc.subject.mesh	Chromosomes, Human, Pair 2	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Colorectal Neoplasms	en_US
dc.subject.mesh	Syndrome	en_US
dc.subject.mesh	Genetic Predisposition to Disease	en_US
dc.subject.mesh	Chromosome Mapping	en_US
dc.subject.mesh	Haplotypes	en_US
dc.subject.mesh	Lod Score	en_US
dc.subject.mesh	Adult	en_US
dc.subject.mesh	Aged	en_US
dc.subject.mesh	Middle Aged	en_US
dc.subject.mesh	Female	en_US
dc.subject.mesh	Male	en_US
dc.subject.mesh	Genome-Wide Association Study	en_US
dc.subject.mesh	Genetic Linkage	en_US
dc.title	Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)	en_US
dc.type	Journal Article
utslib.citation.volume	2	en_US
utslib.citation.volume	10	en_US
utslib.for	1112 Oncology and Carcinogenesis	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Engineering and Information Technology
utslib.copyright.status	closed_access
pubs.issue	2	en_US
pubs.publication-status	Published	en_US
pubs.volume	10	en_US

Abstract:

Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9. © 2010 The Author(s).

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/130711