Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Christina Therkildsen; Göran Jönsson; Mev Dominguez-Valentin; Anja Nissen; Eva Rambech; Britta Halvarsson; Inge Bernstein; Ke Borg; Mef Nilbert

doi:10.1016/j.ejca.2012.11.011

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Christina Therkildsen, Göran Jönsson, Mev Dominguez-Valentin, Anja Nissen, Eva Rambech, Britta Halvarsson, Inge Bernstein, Ke Borg, Mef Nilbert

21 Citations (Scopus)

Abstract

Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways.

Original language	English
Journal	European Journal of Cancer
ISSN	0959-8049
DOIs	https://doi.org/10.1016/j.ejca.2012.11.011
Publication status	Published - Apr 2013

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title = "Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer",

abstract = "Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways.",

author = "Christina Therkildsen and G{\"o}ran J{\"o}nsson and Mev Dominguez-Valentin and Anja Nissen and Eva Rambech and Britta Halvarsson and Inge Bernstein and Ke Borg and Mef Nilbert",

year = "2013",

month = apr,

doi = "10.1016/j.ejca.2012.11.011",

language = "English",

journal = "European Journal of Cancer",

issn = "0959-8049",

publisher = "Pergamon",

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TY - JOUR

T1 - Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

AU - Therkildsen, Christina

AU - Jönsson, Göran

AU - Dominguez-Valentin, Mev

AU - Nissen, Anja

AU - Rambech, Eva

AU - Halvarsson, Britta

AU - Bernstein, Inge

AU - Borg, Ke

AU - Nilbert, Mef

PY - 2013/4

Y1 - 2013/4

N2 - Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways.

AB - Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways.

U2 - 10.1016/j.ejca.2012.11.011

DO - 10.1016/j.ejca.2012.11.011

M3 - Journal article

C2 - 23245329

SN - 0959-8049

JO - European Journal of Cancer

JF - European Journal of Cancer

ER -

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Abstract

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