BRCA1 and BRCA2: The genetic testing and the current management options for mutation carriers

Approximately 5–10% of breast carcinomas and 10% of ovarian carcinomas are ascribable to a genetic susceptibility. Of these, about 40% are related to genetic mutations in the genes BRCA1 and BRCA2. Despite the increasing demand for genetic testing arising from the patients and their relatives, the g...

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Bibliographic Details
Published in:Critical reviews in oncology/hematology 2006, Vol.57 (1), p.1-23
Main Authors: Palma, Marzia, Ristori, Elisabetta, Ricevuto, Enrico, Giannini, Giuseppe, Gulino, Alberto
Format: Article
Language:English
Subjects:
Biological and medical sciences
BRCA1
BRCA1 Protein - genetics
BRCA1 Protein - physiology
BRCA2
BRCA2 Protein - genetics
BRCA2 Protein - physiology
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - prevention & control
DNA Mutational Analysis - methods
Female
Genetic testing
Gynecology. Andrology. Obstetrics
Hematologic and hematopoietic diseases
Humans
Mammary gland diseases
Medical sciences
Mutation
Ovarian cancer
Prognosis
Risk Factors
Tumors
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Summary:Approximately 5–10% of breast carcinomas and 10% of ovarian carcinomas are ascribable to a genetic susceptibility. Of these, about 40% are related to genetic mutations in the genes BRCA1 and BRCA2. Despite the increasing demand for genetic testing arising from the patients and their relatives, the genetic testing can be offered yet only to individuals belonging to high-risk families in which the probability that there is a germline mutation in a BRCA gene is high and thus cancer occurrence is likely the expression of a highly penetrant genetic predisposition. In this article, we review how the current knowledge on the biological mechanisms underlying BRCA1 and BRCA2 dysfunction may contribute to the understanding of breast and ovarian cancer predisposition. The most currently employed methods for genetic testing are critically overviewed, together with some indications for the interpretation of the test outcome and the clinical management of mutation carriers.
ISSN:1040-8428
1879-0461
DOI:10.1016/j.critrevonc.2005.05.003