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Genomic rearrangements in BRCA1 and BRCA2 : a literature review

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Genomic rearrangements in BRCA1 and BRCA2 : a literature review

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Título Genomic rearrangements in BRCA1 and BRCA2 : a literature review
Autor Ewald, Ingrid Petroni
Ribeiro, Patrícia Lisbôa Izetti
Palmero, Edenir Inêz
Cossio, Silvia Liliana
Giugliani, Roberto
Prolla, Patrícia Ashton
Abstract 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 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.
Contido em Genetics and molecular biology. Ribeirão Preto. Vol. 32, no. 3 (Sept. 2009), p. 437-446
Assunto Aconselhamento genético
Doenças genéticas inatas
Genética
Hereditariedade
Neoplasias
Neoplasias da mama
[en] BRCA1
[en] BRCA2
[en] Breast cancer
[en] Genomic rearrangements
[en] MLPA
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/23416
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