Review
Genetic testing for inherited breast and ovarian cancer
syndromes: important concepts for the primary care physician
M R G Taylor
Division of
Genetics, Children's Hospital, 1056 E 19th Avenue B300, Denver,
Colorado 80218, USA
Correspondence to: Dr Taylor matthew.taylor{at}uchsc.edu
Submitted 2 September
1999;
Accepted 3 April 2000
The remarkable advances in the area of genetic testing are
transforming the way clinical medicine is practised. In the case of the
inherited breast-ovarian cancer syndrome the ability to engage in
genetic testing of BRCA genes has raised novel issues over caring for
patients who are at increased risk for these malignancies. The primary
care physician is likely to play a pivotal role in identifying such
persons. As only 10-15% of all breast cancers are caused by directly
heritable mutations, cultivating the ability to identify those who may
be at increased risk is an important skill for the primary care
physician. Once it is established that an individual is at risk of BRCA
mutation, the physician must understand the potential benefits and
drawbacks of the various genetic BRCA tests. Taking such factors into
account leads to the development of an appropriate plan for evaluation.
Careful attention must also be paid to social and psychological issues that may affect patients and their families.
Keywords: breast cancer; ovarian cancer; genetics; inherited cancers
© 2001 by The Fellowship of Postgraduate Medicine
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