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Hereditary breast and ovarian cancers: genetic testing and its clinical implications

In The Journal of Obstetrics and gynecology of India
By: Kowtal P.
Contributor(s): Joshi N | Vyas S | rsarin@actrec.gov.in | Sarin R.
Material type: materialTypeLabelArticleSeries: Vol 57 Issues 4.Publisher: 2007Description: 298-306.Subject(s): genetic testing | ovarian cancer | breast cancer | mutations | BRCA2 | BRCA1 | DDC classification: In: The Journal of Obstetrics and gynecology of IndiaSummary: Breast and ovarian cancers are the most commonly encountered cancers in women, although only 5% or less of these arise from hereditary predisposition. Mutations in two of the cancer susceptibility genes, BRCA1 or BRCA2, explain breast and ovarian cancers in a majority of these hereditary cancers. With the advent of gene testing and dissemination of information over the public domains, clinicians are often confronted by patients about the options and benefits of these tests. Genetic counseling and risk estimation for breast or ovarian cancer along with BRCA mutation analysis has been initiated by our group at the Tata Memorial Hospital and ACTREC. The purpose of this review is to a) provide basic information about the mutations in BRCA1 and BRCA2 genes b) highlight the relevance of population based data on the occurrence of mutations in these genes c) evaluate various methods of genetic testing and d) discuss clinical aspects for the management of disease in mutation carriers.
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Articles Articles Tata Memorial Hospital
(Browse shelf) Available AR7766

Breast and ovarian cancers are the most commonly
encountered cancers in women, although only 5% or less of
these arise from hereditary predisposition. Mutations in two
of the cancer susceptibility genes, BRCA1 or BRCA2, explain
breast and ovarian cancers in a majority of these hereditary
cancers. With the advent of gene testing and dissemination
of information over the public domains, clinicians are often
confronted by patients about the options and benefits of these
tests. Genetic counseling and risk estimation for breast or
ovarian cancer along with BRCA mutation analysis has been
initiated by our group at the Tata Memorial Hospital and
ACTREC. The purpose of this review is to a) provide basic
information about the mutations in BRCA1 and BRCA2 genes
b) highlight the relevance of population based data on the
occurrence of mutations in these genes c) evaluate various
methods of genetic testing and d) discuss clinical aspects
for the management of disease in mutation carriers.

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