Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families
| العنوان: | Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families |
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| المؤلفون: | Kenneth Offit, Mark E. Robson, Nichole Hansen, Zsofia K. Stadler, Noah D. Kauff, A. Schluger, Emmanuel Saloustros |
| المصدر: | Breast Cancer Research and Treatment. 123:581-585 |
| بيانات النشر: | Springer Science and Business Media LLC, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Male, Cancer Research, endocrine system diseases, Breast Neoplasms, Biology, Risk Assessment, Breast Neoplasms, Male, Breast cancer, Risk Factors, medicine, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, BRCA2 Protein, Gene Rearrangement, Ovarian Neoplasms, BRCA1 Protein, BRCA mutation, Cancer, Gene rearrangement, Middle Aged, medicine.disease, Founder Effect, female genital diseases and pregnancy complications, Ashkenazi jews, Pedigree, Phenotype, Oncology, Jews, Mutation, Cancer research, Female, New York City, Breast disease, Ovarian cancer |
| الوصف: | A substantial proportion of Ashkenazi Jewish (AJ) breast and ovarian cancer families carry one of three founder mutations in BRCA1 (185delAG, 5382InsC) and BRCA2 (6174delT). Non-founder mutations are identified in another 2-4% of such families. The extent to which major genomic rearrangements in BRCA contribute to breast and ovarian cancer in the Ashkenazim is not well understood. We identified AJ individuals with breast and/or ovarian cancer undergoing hereditary breast/ovarian cancer risk assessment since 2006 without evidence of a deleterious mutation on BRCA gene sequencing who were screened for major gene rearrangements in BRCA1 and BRCA2. For each proband, the pre-test probability of identifying a deleterious BRCA mutation was estimated using the Myriad II model. We identified 108 affected individuals who underwent large rearrangement testing (80 breast cancer, 19 ovarian cancer, nine both breast and ovarian cancer). The mean estimated AJ specific pre-test probability of a deleterious mutation in BRCA1 and BRCA2 was 24.7% (range: 4.4-88.9%). No genomic rearrangements were identified in either the entire group or in the 26 subjects with pre-test mutation prevalence estimates exceeding 30%. Major gene rearrangements involving the BRCA1 and BRCA2 genes appear to contribute little to the burden of inherited predisposition to breast and ovarian cancer in the Ashkenazim. |
| تدمد: | 1573-7217 0167-6806 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd7f66a97d29277214c6aa1ed7e6739 https://doi.org/10.1007/s10549-010-0818-y |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....8fd7f66a97d29277214c6aa1ed7e6739 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15737217 01676806 |
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