Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online
| العنوان: | Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online |
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| المؤلفون: | Vm, Benedetti, Radice P, Pasini B, Stagi L, Pensotti V, Mondini P, Manoukian S, Conti A, Spatti G, Rilke F, Marco Alessandro Pierotti |
| المصدر: | Scopus-Elsevier Europe PubMed Central |
| مصطلحات موضوعية: | BRCA2 Protein, Male, Ovarian Neoplasms, BRCA1, BRCA2, breast cancer, ovarian cancer, germline mutation, BRCA1 Protein, Carcinoma, Breast Neoplasms, Breast Neoplasms, Male, Neoplasm Proteins, Italy, Humans, Female, Germ-Line Mutation, Transcription Factors |
| الوصف: | Germline mutations in the BRCA1 and BRCA2 genes are associated with approximately 80% of families with a high incidence of breast and/or ovarian cancers (OMIM database reference numbers: 113705, 600185). Furthermore, constitutional mutations in the these genes have been reported in women with early-onset breast carcinoma and without family history of cancer. We analyzed by protein truncation test (PTT) and single strand conformation polymorphism (SSCP) followed by sequence analysis, BRCA1 exons 11 and 20 and BRCA2 exons 10 and 11 in 142 Italian cancer patients. These included six male breast cancer cases, 61 women with breast carcinoma diagnosed before 36 years old and selected independently of family history of breast cancer and 75 familial breast and/or ovarian cancer patients. In a previous report, we described 11 different BRCA1 mutations in a subset of 70 cases. Here, we report the characterization of 23 additional mutations, 14 in BRCA1 and 9 in BRCA2, subsequently identified. Ten mutations were not previously described, while the other 13 were recurrent. Of the 61 women with early-onset breast cancer, 11 carried a germline mutation in BRCA1 (18.0%) and four in BRCA2 (6.6%). These frequencies indicate that BRCA1/BRCA2 genetic tests should be advised to women with breast cancer diagnosed at early age, independently of family history of cancer. |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8aa3e4b8b6583f107cd1e23b391fa4afTest http://www.scopus.com/inward/record.url?eid=2-s2.0-17144454810&partnerID=MN8TOARSTest |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.pmid.dedup....8aa3e4b8b6583f107cd1e23b391fa4af |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |