Assessment ofTP53Polymorphisms andMDM2SNP309 in Premenopausal Breast Cancer Risk
| Autor: | Badr Id Said, Tanya Guha, David Malkin, Anne-Lise Børrsen-Dale, Weili Li, Nardin Samuel, Laxmi Silwal-Pandit, Anita Langerød, Thomas J Hudson, Ana Novokmet |
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| Rok vydání: | 2017 |
| Předmět: |
Risk
0301 basic medicine Oncology medicine.medical_specialty Genotype Mdm2 snp309 Breast Neoplasms Polymorphism Single Nucleotide Germline 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine Genetics medicine Humans Age of Onset Allele Gene Alleles Genetics (clinical) biology High-Throughput Nucleotide Sequencing Proto-Oncogene Proteins c-mdm2 medicine.disease 3. Good health 030104 developmental biology Premenopause 030220 oncology & carcinogenesis Cohort biology.protein Premenopausal breast cancer Mdm2 Female Tumor Suppressor Protein p53 |
| Zdroj: | Human Mutation. 38:265-268 |
| ISSN: | 1059-7794 |
| DOI: | 10.1002/humu.23154 |
| Popis: | Germline polymorphic variants in cancer predisposition genes such as TP53 have been shown to impact the risk of premenopausal cancer. Accordingly, the aim of this study was to assess the spectrum of polymorphisms in TP53 and its negative regulatory gene, MDM2 (SNP309:T>G) in patients with premenopausal breast cancer. Our findings in a cohort of 40 female patients demonstrate no significant correlation between the studied polymorphisms and risk of premenopausal breast cancer. Although one polymorphism is found in high frequency in this cohort (rs1800372:A>G, 9.0%), it was not associated with the risk of developing cancer before the age of 35 years in an extended cohort of 1,420 breast cancer cases. Functional studies of the rs1800372:A>G polymorphic allele reveal that it does not affect p53 transactivation function. Further study of variants or mutations in other cancer susceptibility genes is warranted to refine our understanding of the germline contribution to premenopausal breast cancer susceptibility. |
| Databáze: | OpenAIRE |
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