TGFBR1*6A and Int7G24A variants of transforming growth factor-β receptor 1 in Swedish familial and sporadic breast cancer
| العنوان: | TGFBR1*6A and Int7G24A variants of transforming growth factor-β receptor 1 in Swedish familial and sporadic breast cancer |
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| المؤلفون: | Sara Margolin, Bo Song, Simone Picelli, Annika Lindblom, Johanna Skoglund, Barbro Werelius, Johanna Rantala, Xiaoying Zhou |
| المصدر: | British Journal of Cancer |
| بيانات النشر: | Springer Science and Business Media LLC, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Pathology, Genotype, Population, Receptor, Transforming Growth Factor-beta Type I, Breast Neoplasms, Disease, Protein Serine-Threonine Kinases, Polymerase Chain Reaction, polymorphism, breast cancer, Breast cancer, Risk Factors, Internal medicine, medicine, Humans, Protein Isoforms, Genetic Predisposition to Disease, Family history, skin and connective tissue diseases, education, Allele frequency, Aged, Neoplasm Staging, Aged, 80 and over, Sweden, education.field_of_study, Polymorphism, Genetic, transforming growth factor-β receptor 1, business.industry, familial, Genetics and Genomics, Odds ratio, Middle Aged, medicine.disease, Pedigree, sporadic, Cohort, Female, business, Receptors, Transforming Growth Factor beta |
| الوصف: | Two common variants in transforming growth factor-beta receptor 1 (TGFBR1), TGFBR1(*)6A and Int7G24A, A allele, have been shown to act as low-penetrance tumour susceptibility alleles in several common cancers, including breast cancer. We evaluated the TGFBR1 9A/6A and Int7G24A variant frequencies in two breast cancer cohorts; a population-based cohort of breast cancer with defined family history (n=459) and in breast cancer patients from a familial cancer clinic (n=340) and in 856 controls from the Stockholm region. The familial patients from both cohorts were further divided into high- and low-risk familial breast cancer based on pedigree analysis. There was no overall association with either variant and breast cancer risk. The TGFBR1(*)6A allelic frequency was, however, higher in low-risk familial breast cancer (0.138), compared to controls (0.106; P=0.04). No significant difference was found in the high-risk familial (0.102) or sporadic cases (0.109; P=0.83 and 0.83, respectively). TGFBR1(*)6A carrier status was further associated with a high-grade sporadic breast cancer (odds ratio: 2.27; 95% confidence interval: 1.01-5.11; P=0.049). These results indicate that the TGFBR1(*)6A variant may be associated with an increased risk of low-risk familial breast cancer and might be a marker for poorly differentiated breast cancer. The Int7G24A variant was not associated with breast cancer risk or clinical presentation of the disease including prognosis in our material. |
| تدمد: | 1532-1827 0007-0920 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d92f1ec86e5af850d5a12b2a3ca05ad2Test https://doi.org/10.1038/sj.bjc.6603961Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d92f1ec86e5af850d5a12b2a3ca05ad2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15321827 00070920 |
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