Genomic rearrangements in BRCA1 and BRCA2 : a literature review

AUTOR(ES)

Ewald, Ingrid Petroni

DATA DE PUBLICAÇÃO

2010

RESUMO

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.

ASSUNTO(S)

brca1 genética câncer brca2 breast cancer hereditariedade genomic rearrangements aconselhamento genético mlpa doenças genéticas inatas neoplasias da mama

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