655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations
Human ERBB2 presents several SNPs. One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. Another SNP, Ala1170Pro, introduces a structural change in the c...
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| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2007-01-01
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| Series: | Cellular Oncology |
| Online Access: | http://dx.doi.org/10.1155/2007/512518 |
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| author | Stefania Tommasi Vita Fedele Rosanna Lacalamita Michele Bruno Francesco Schittulli David Ginzinger Gery Scott Serenella Eppenberger-Castori Daniele Calistri Silvia Casadei Ian Seymour Salvatore Longo Gianluigi Giannelli Brunella Pilato Giovanni Simone Christopher C. Benz Angelo Paradiso |
| author_facet | Stefania Tommasi Vita Fedele Rosanna Lacalamita Michele Bruno Francesco Schittulli David Ginzinger Gery Scott Serenella Eppenberger-Castori Daniele Calistri Silvia Casadei Ian Seymour Salvatore Longo Gianluigi Giannelli Brunella Pilato Giovanni Simone Christopher C. Benz Angelo Paradiso |
| author_sort | Stefania Tommasi |
| collection | DOAJ |
| description | Human ERBB2 presents several SNPs. One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. Another SNP, Ala1170Pro, introduces a structural change in the carboxyl-terminal regulatory domain of the protein, but its clinical and biological importance remains undefined. The aim of this study was to investigate the association of rare alleles of both SNPs and the risk of developing breast cancer, BRCA1 alterations and clinical-pathological features of Caucasian breast cancer patients with familial history of breast/ovarian cancer. The originality of the present paper is that it is the only specifically focusing on the relationship between ERBB2 SNPs and familiarity/BRCA1 characteristics. A consecutive series of 628 patients with first diagnosis of breast cancer and 169 healthy people had DNA analyzed for both SNPs. Genotypic or allelic frequencies of ERBB2 SNPs in breast cancer patients were similar than in controls. The variant allele 655Val was significantly associated with younger age (p=0.009) particularly associated with patient family history of breast cancer (p=0.02). The 655Val allele was also more commonly found in invasive, while the variant 1170Pro in estrogen receptor positive breast cancers. Furthermore, this last SNP seems to be strictly associated with the presence of BRCA1 polymorphisms. In conclusion, these findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes and to the need of deeply investigate different gene SNPs association for risk defining. |
| format | Article |
| id | doaj-art-ea730260dec84d3cb23343bb6d31e029 |
| institution | Kabale University |
| issn | 1570-5870 1875-8606 |
| language | English |
| publishDate | 2007-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cellular Oncology |
| spelling | doaj-art-ea730260dec84d3cb23343bb6d31e0292025-02-03T05:57:09ZengWileyCellular Oncology1570-58701875-86062007-01-0129324124810.1155/2007/512518655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 AlterationsStefania Tommasi0Vita Fedele1Rosanna Lacalamita2Michele Bruno3Francesco Schittulli4David Ginzinger5Gery Scott6Serenella Eppenberger-Castori7Daniele Calistri8Silvia Casadei9Ian Seymour10Salvatore Longo11Gianluigi Giannelli12Brunella Pilato13Giovanni Simone14Christopher C. Benz15Angelo Paradiso16National Cancer Institute-Bari, ItalyNational Cancer Institute-Bari, ItalyNational Cancer Institute-Bari, ItalyNational Cancer Institute-Bari, ItalyNational Cancer Institute-Bari, ItalyUniversity of California, San Francisco, CA, USABuck Institute for Age Research, Novato, CA, USAStiftung Tumorbank Basel, Basel, SwitzerlandIstituto Oncologico Romagnolo Forlì, ItalyIstituto Oncologico Romagnolo Forlì, ItalyIstituto Oncologico Romagnolo Forlì, ItalyNational Cancer Institute-Bari, ItalyUniversity of Bari, ItalyNational Cancer Institute-Bari, ItalyNational Cancer Institute-Bari, ItalyBuck Institute for Age Research, Novato, CA, USANational Cancer Institute-Bari, ItalyHuman ERBB2 presents several SNPs. One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. Another SNP, Ala1170Pro, introduces a structural change in the carboxyl-terminal regulatory domain of the protein, but its clinical and biological importance remains undefined. The aim of this study was to investigate the association of rare alleles of both SNPs and the risk of developing breast cancer, BRCA1 alterations and clinical-pathological features of Caucasian breast cancer patients with familial history of breast/ovarian cancer. The originality of the present paper is that it is the only specifically focusing on the relationship between ERBB2 SNPs and familiarity/BRCA1 characteristics. A consecutive series of 628 patients with first diagnosis of breast cancer and 169 healthy people had DNA analyzed for both SNPs. Genotypic or allelic frequencies of ERBB2 SNPs in breast cancer patients were similar than in controls. The variant allele 655Val was significantly associated with younger age (p=0.009) particularly associated with patient family history of breast cancer (p=0.02). The 655Val allele was also more commonly found in invasive, while the variant 1170Pro in estrogen receptor positive breast cancers. Furthermore, this last SNP seems to be strictly associated with the presence of BRCA1 polymorphisms. In conclusion, these findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes and to the need of deeply investigate different gene SNPs association for risk defining.http://dx.doi.org/10.1155/2007/512518 |
| spellingShingle | Stefania Tommasi Vita Fedele Rosanna Lacalamita Michele Bruno Francesco Schittulli David Ginzinger Gery Scott Serenella Eppenberger-Castori Daniele Calistri Silvia Casadei Ian Seymour Salvatore Longo Gianluigi Giannelli Brunella Pilato Giovanni Simone Christopher C. Benz Angelo Paradiso 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations Cellular Oncology |
| title | 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations |
| title_full | 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations |
| title_fullStr | 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations |
| title_full_unstemmed | 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations |
| title_short | 655Val and 1170Pro ERBB2 SNPs in Familial Breast Cancer Risk and BRCA1 Alterations |
| title_sort | 655val and 1170pro erbb2 snps in familial breast cancer risk and brca1 alterations |
| url | http://dx.doi.org/10.1155/2007/512518 |
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