期刊
GENETICS AND MOLECULAR BIOLOGY
卷 32, 期 3, 页码 437-446出版社
SOC BRASIL GENETICA
DOI: 10.1590/S1415-47572009005000049
关键词
BRCA1; BRCA2; breast cancer; genomic rearrangements; MLPA
资金
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [477990/2006-1]
- Fundacao de Apoio a Pesquisa do Hospital de Clinicas de Porto Alegre (FIPE) [04-081]
- Susan G Komen for the Cure [POP 0403033]
- Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
- Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (FAPERGS)
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also presented. The detection of rearrangements in BRCA genes, especially BRCA1, offers a promising outlook for mutation screening in clinical practice, particularly in HBOC families that test negative for a germline mutation assessed by traditional methods.
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