Improved knowledge of genomic alterations in cancer has changed the landscape of cancer diagnosis, treatment, and prevention. At the forefront of this revolution are gynecologic malignancies, including ovarian and uterine cancers, which are most commonly associated with hereditary breast and ovarian cancer (HBOC) and hereditary non-polyposis colorectal cancer (HNPCC) or Lynch, respectively. The importance of these discoveries cannot be understated because they have resulted in practice-changing evidence that informs prognosis and treatment for those affected by cancer and enables risk reduction strategies for women who are affected and unaffected.
Ideally, mutation carriers should be identified before cancer develops when preventative surgery can be performed at the appropriate age. Testing women already affected by these cancers, however, is often the earliest opportunity to identify these mutations in the remainder of their blood relatives. Therefore, gynecologists and gynecologic oncologists are both positioned to identify candidates for hereditary cancer testing. Moreover, in cancer patients, hereditable and non-heritable mutations are informative for cancer treatment.
This article reviews the two most common cancer syndromes in addition to aspects of “genetic” testing that can be tricky for a clinician to navigate when treating and counseling these women. Patient information resources we recommend are listed in Table 1.
|TABLE 1||Patient information resources on cancer genetic testing|
|Foundation for Women’s Cancer website||http://www.foundationforwomenscancer.org/risk-awareness/|
|The American College of Obstetricians and Gynecologists’ Patient Education Fact Sheet on BRCA1 and BRCA2 Mutations||https://www.acog.org/Patients/FAQs/BRCA1-and-BRCA2-Mutations|
|National Cancer Institute webpage on genetics of cancer||https://www.cancer.gov/about-cancer/causes-prevention/genetics|
|FORCE: Facing Our Risk of Cancer Empowered website on hereditary breast, ovarian and related cancers||http://www.facingourrisk.org|
The authors report no potential conflicts of interest with regard to this article.
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