Breast cancer predisposing alleles in Poland

Mutant alleles of several genes in the DNA repair pathway have been found to predispose women to breast cancer. From a public health perspective, the importance of a given allele in a population is determined by the frequency of the allele and by the relative risk of breast cancer that it confers. I...

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Bibliographic Details
Published in:Breast cancer research and treatment 2005-07, Vol.92 (1), p.19-24
Main Authors: GORSKI, B, CYBULSKI, C, MITUS, J, MARCZYK, E, DZIUBA, J, WANDZEL, P, SURDYKA, D, HAUS, O, JANISZEWSKA, H, DEBNIAK, T, TOŁOCZKO-GRABAREK, A, MEDREK, K, HUZARSKI, T, MASOJC, B, MIERZEJEWSKI, M, KOWALSKA, E, NAROD, S. A, LUBINSKI, J, BYRSKI, T, GRONWALD, J, JAKUBOWSKA, A, STAWICKA, M, GOZDECKA-GRODECKA, S, SZWIEC, M, URBANSKI, K
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Alleles
Biological and medical sciences
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Cancer research
Cancer therapies
Cell Cycle Proteins - genetics
Checkpoint Kinase 2
Female
Genes
Genes, BRCA1
Genetic Predisposition to Disease
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Middle Aged
Nuclear Proteins - genetics
Poland - epidemiology
Prevalence
Protein-Serine-Threonine Kinases - genetics
Risk
Risk Assessment
Risk factors
Tumors
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Summary:Mutant alleles of several genes in the DNA repair pathway have been found to predispose women to breast cancer. From a public health perspective, the importance of a given allele in a population is determined by the frequency of the allele and by the relative risk of breast cancer that it confers. In Poland founder alleles of the BRCA1, CHEK2 and NBS1 genes have been associated with an increased risk of breast cancer, but the relative contribution of each of these alleles to the overall breast cancer burden has not yet been determined. We screened 2012 unselected cases of breast cancer and 4000 population controls for 7 different mutations in these genes. Overall, a mutation was found in 12% of the cases and in 6% of the controls. Mutations in BRCA1 and CHEK2 contributed in approximately equal measure to the burden of breast cancer in Poland. A BRCA1 mutation was present in 3% of the cases. The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2). In contrast, a higher odds ratio was seen for truncating CHEK2 mutations (OR=2.1) than for the missense mutation I157T (OR=1.4). This study suggests that cancer risks may be specific for particular alleles of a susceptibility gene and that these different risks should be taken into account by genetic counselors.
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-005-1409-1