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

Roberts, Aedan, Nancarrow, Derek, Clendenning, Mark, Buchanan, Daniel, Jenkins, Mark, Duggan, David, Taverna, Darin, McKeone, Diane, Walters, Rhiannon, Walsh, Michael, Young, Bruce, Pelzer, Elise, & other, and (2010) Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome). Familial Cancer, 10(2), pp. 245-254.

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Abstract

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.

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ID Code: 44349
Item Type: Journal Article
Refereed: Yes
Additional URLs:
Keywords: Serrated neoplasia, Familial cancer, Linkage
DOI: 10.1007/s10689-010-9408-8
ISSN: 1389-9600
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > ONCOLOGY AND CARCINOGENESIS (111200)
Divisions: Current > Research Centres > Office of Education Research
Current > QUT Faculties and Divisions > Faculty of Education
Past > QUT Faculties & Divisions > Faculty of Science and Technology
Copyright Owner: Springer
Deposited On: 24 Aug 2011 22:10
Last Modified: 26 Nov 2012 06:42

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