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Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival

Varadi, Verena; Bevier, Melanie; Grzybowska, Ewa; Johansson, Robert; Enquist-Olsson, Kerstin; Henriksson, Roger; Butkiewicz, Dorota; Pamula-Pilat, Jolanta; Tecza, Karolina and Hemminki, Kari LU , et al. (2012) In Breast Cancer Research and Treatment 131(1). p.311-319
Abstract
Chromosomal instability is a hallmark of many cancers and it has a potential to predict clinical outcome of a cancer patient. We hypothesized that genes whose expression status differs between chromosomal stable and unstable breast tumors represent target genes for the identification of genetic variants predicting breast cancer (BC) risk, disease progression, and survival. We used a published list of 38 genes associated with chromosomal instability as a basis for searching potentially functional and informative tagging single nucleotide polymorphisms (SNPs). As a result, 33 SNPs in 16 genes were genotyped in a population-based series of 783 Swedish BC cases. Two SNPs in the ALCAM gene associated with BC-specific survival. For rs1044243,... (More)
Chromosomal instability is a hallmark of many cancers and it has a potential to predict clinical outcome of a cancer patient. We hypothesized that genes whose expression status differs between chromosomal stable and unstable breast tumors represent target genes for the identification of genetic variants predicting breast cancer (BC) risk, disease progression, and survival. We used a published list of 38 genes associated with chromosomal instability as a basis for searching potentially functional and informative tagging single nucleotide polymorphisms (SNPs). As a result, 33 SNPs in 16 genes were genotyped in a population-based series of 783 Swedish BC cases. Two SNPs in the ALCAM gene associated with BC-specific survival. For rs1044243, the HR was 4.35 (95% CI 1.34-14.18), and for rs1157, the HR was 3.42 (95% CI 1.32-8.83) for the homozygous carriers of the minor alleles. For the minor allele carriers of CCL18 SNP rs14304, we observed a significant association with aggressive tumor characteristics: large tumor size (OR 1.53, 95% CI 1.10-2.14), positive lymph node metastasis (OR 1.75, 95% CI 1.02-3.00), and high stage (OR 1.37, 95% CI 1.02-1.85). In a Polish population consisting of 506 familial/early onset BC cases, no association with event-free survival for the ALCAM SNPs nor any association with tumor characteristics for the CCL18 SNP were observed, suggesting either a chance finding in the Swedish population or population-based or etiological differences between sporadic and familial/early onset BC. (Less)
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Contribution to journal
publication status
published
subject
keywords
Breast Cancer, SNPs, Chromosomal instability, Prognostic marker
in
Breast Cancer Research and Treatment
volume
131
issue
1
pages
311 - 319
publisher
Springer
external identifiers
  • wos:000298006300032
  • scopus:84856208936
ISSN
1573-7217
DOI
10.1007/s10549-011-1765-y
language
English
LU publication?
yes
id
93c6f39d-cc5b-4cd8-afc5-2d964037121e (old id 2362679)
date added to LUP
2012-03-01 12:18:10
date last changed
2017-08-13 04:01:23
@article{93c6f39d-cc5b-4cd8-afc5-2d964037121e,
  abstract     = {Chromosomal instability is a hallmark of many cancers and it has a potential to predict clinical outcome of a cancer patient. We hypothesized that genes whose expression status differs between chromosomal stable and unstable breast tumors represent target genes for the identification of genetic variants predicting breast cancer (BC) risk, disease progression, and survival. We used a published list of 38 genes associated with chromosomal instability as a basis for searching potentially functional and informative tagging single nucleotide polymorphisms (SNPs). As a result, 33 SNPs in 16 genes were genotyped in a population-based series of 783 Swedish BC cases. Two SNPs in the ALCAM gene associated with BC-specific survival. For rs1044243, the HR was 4.35 (95% CI 1.34-14.18), and for rs1157, the HR was 3.42 (95% CI 1.32-8.83) for the homozygous carriers of the minor alleles. For the minor allele carriers of CCL18 SNP rs14304, we observed a significant association with aggressive tumor characteristics: large tumor size (OR 1.53, 95% CI 1.10-2.14), positive lymph node metastasis (OR 1.75, 95% CI 1.02-3.00), and high stage (OR 1.37, 95% CI 1.02-1.85). In a Polish population consisting of 506 familial/early onset BC cases, no association with event-free survival for the ALCAM SNPs nor any association with tumor characteristics for the CCL18 SNP were observed, suggesting either a chance finding in the Swedish population or population-based or etiological differences between sporadic and familial/early onset BC.},
  author       = {Varadi, Verena and Bevier, Melanie and Grzybowska, Ewa and Johansson, Robert and Enquist-Olsson, Kerstin and Henriksson, Roger and Butkiewicz, Dorota and Pamula-Pilat, Jolanta and Tecza, Karolina and Hemminki, Kari and Lenner, Per and Försti, Asta},
  issn         = {1573-7217},
  keyword      = {Breast Cancer,SNPs,Chromosomal instability,Prognostic marker},
  language     = {eng},
  number       = {1},
  pages        = {311--319},
  publisher    = {Springer},
  series       = {Breast Cancer Research and Treatment},
  title        = {Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival},
  url          = {http://dx.doi.org/10.1007/s10549-011-1765-y},
  volume       = {131},
  year         = {2012},
}