Genomic rearrangements in BRCA1 and BRCA2: A literature review |
| |
Authors: | Ewald Ingrid Petroni Ribeiro Patricia Lisboa Izetti Palmero Edenir Inêz Cossio Silvia Liliana Giugliani Roberto Ashton-Prolla Patricia |
| |
Affiliation: | Laboratório de Medicina Gen?mica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS Brazil. |
| |
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. |
| |
Keywords: | BRCA1 BRCA2 breast cancer genomic rearrangements MLPA |
本文献已被 PubMed 等数据库收录! |
|