title: Genomic rearrangements in BRCA1 and BRCA2: A literature review.
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 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.
authors.affiliation: Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS Brazil.
authors.forename: Ingrid Petroni
authors.initials: IP
authors.lastname: Ewald
authors.forename: Patricia Lisboa Izetti
authors.initials: PL
authors.lastname: Ribeiro
authors.forename: Edenir Inêz
authors.initials: EI
authors.lastname: Palmero
authors.forename: Silvia Liliana
authors.initials: SL
authors.lastname: Cossio
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla