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

Roberts, Aedan, Nancarrow, Derek, Clendenning, Mark, Buchanan, Daniel D., Jenkins, Mark A., Duggan, David, Taverna, Darin, McKeone, Diane, Walters, Rhiannon, Walsh, Michael D., Young, Bruce W., Jass, Jeremy R., Rosty, Christophe, Gattas, Michael, Pelzer, Elise, Hopper, John L., Goldblatt, Jack, George, Jill, Suthers, Graeme K., Phillips, Kerry, Parry, Susan, Woodall, Sonja, Arnold, Julie, Tucker, Kathy, Muir, Amanda, Drini, Musa, Macrae, Finlay, Newcomb, Polly, Potter, John D., Pavluk, Erika, Lindblom, Annika and Young, Joanne P. (2011) Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome). Familial Cancer, 10 2: 245-254. doi:10.1007/s10689-010-9408-8

Author Roberts, Aedan
Nancarrow, Derek
Clendenning, Mark
Buchanan, Daniel D.
Jenkins, Mark A.
Duggan, David
Taverna, Darin
McKeone, Diane
Walters, Rhiannon
Walsh, Michael D.
Young, Bruce W.
Jass, Jeremy R.
Rosty, Christophe
Gattas, Michael
Pelzer, Elise
Hopper, John L.
Goldblatt, Jack
George, Jill
Suthers, Graeme K.
Phillips, Kerry
Parry, Susan
Woodall, Sonja
Arnold, Julie
Tucker, Kathy
Muir, Amanda
Drini, Musa
Macrae, Finlay
Newcomb, Polly
Potter, John D.
Pavluk, Erika
Lindblom, Annika
Young, Joanne P.
Title Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)
Journal name Familial Cancer   Check publisher's open access policy
ISSN 1389-9600
Publication date 2011-06-01
Sub-type Article (original research)
DOI 10.1007/s10689-010-9408-8
Volume 10
Issue 2
Start page 245
End page 254
Total pages 10
Place of publication Dordrecht, Netherlands
Publisher Springer
Language eng
Formatted 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.
Keyword Familial cancer
Serrated neoplasia
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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