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Blog Archives: Nov 2004 - present
Special items: Ovarian Cancer and Us blog best viewed in Firefox
(The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production)
Abstract:
The BRCA1/2 genes account for a significant portion of hereditary
breast and ovarian cancers and they are especially prevalent in the
Ashkenazi Jewish population. Women who have a mutation can prevent
breast and ovarian cancer with surgical intervention. We describe an
Ashkenazi Jewish patient who illustrates that current testing criteria
are too restrictive, particularly for this population of patients. The
patient's sister was diagnosed with breast cancer at age 33; however,
she was not a mutation carrier. Based on practice guidelines, the
patient was not recommended genetic testing. She subsequently underwent
direct-to-consumer (DTC) testing and discovered that she was a mutation
carrier. This case demonstrates the need for clinicians to be aware of
the higher prevalence of BRCA mutations in the Ashkenazi population.
It also exemplifies the need to involve medical professionals, including
genetic counselors, in the dissemination of DNA test results.
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