Genomic rearrangements in BRCA1 and BRCA2: a literature review
Genet. mol. biol
;
32(3): 437-446, 2009. ilus, tab
Article
in English
| LILACS
| ID: lil-522309
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Ovarian Neoplasms
/
Breast Neoplasms
/
Genetic Predisposition to Disease
/
Mutation
Type of study:
Etiology study
/
Risk factors
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2009
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital de Clínicas de Porto Alegre/BR
/
Universidade Federal do Rio Grande do Sul/BR
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