Genomic rearrangements in BRCA1 and BRCA2 : a literature review

dc.creatorEwald, Ingrid Petroni
dc.creatorRibeiro, Patrícia Lisbôa Izetti
dc.creatorPalmero, Edenir Inêz
dc.creatorCossio, Silvia Liliana
dc.creatorGiugliani, Roberto
dc.creatorProlla, Patrícia Ashton
dc.date2010-06-05T04:17:30Z
dc.date2009
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/10183/23416
dc.identifier000717318
dc.descriptionWomen 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 inBRCA 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.
dc.formatapplication/pdf
dc.languageeng
dc.relationGenetics and molecular biology. Ribeirão Preto. Vol. 32, no. 3 (Sept. 2009), p. 437-446
dc.rightsOpen Access
dc.subjectGenética
dc.subjectNeoplasias
dc.subjectHereditariedade
dc.subjectAconselhamento genético
dc.subjectDoenças genéticas inatas
dc.subjectNeoplasias da mama
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectBreast cancer
dc.subjectGenomic rearrangements
dc.subjectMLPA
dc.titleGenomic rearrangements in BRCA1 and BRCA2 : a literature review
dc.typeArtigo de periódico
dc.typeNacional


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