SGO's Statement on Risk Assessment for Inherited Gynecologic Cancer Predisposition

Abstract & Commentary

By Robert L. Coleman, MD, Associate Professor, University of Texas; M.D. Anderson Cancer Center, Houston, is Associate Editor for OB/GYN Clinical Alert.

Dr. Coleman reports no financial relationship to this field of study.

Synopsis: Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast/Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk of ovarian cancer.

Source: Lancaster JM, et al. Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions. Gynecol Oncol. 2007;107:159-162.

Germline mutations in BRCA1 or BRCA2 associated with the Hereditary Breast/Ovarian Cancer syndrome have an increased lifetime risk for breast (up to 85%) and ovarian (up to 46% BRCA1, up to 27% BRCA2) cancer. Likewise, women with germline mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6 associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer syndrome have an increased risk of colon (up to 60%), endometrial (up to 60%) and ovarian (up to 12%) cancer. The dramatic association between cancer risk and mutation carriage exemplifies the importance of subject identification. Fortunately, genetic counselors are now widely available to provide accurate risk assessment and make appropriate recommendations to screening, surveillance, genetic testing and even surgery. However, patients must be identified in whom these services will be of merit. The SGO Education and Resource Panel for Hereditary Cancers, with approval of the Executive Committee of the Society of Gynecologic Oncologists, constructed the current document to aid healthcare providers in the identification of patients who may benefit from cancer risk assessment for these two major syndromes.


The association between cancer development and carrier status of a germline mutation in one of the cancer susceptibility genes is provocative enough to recommend prophylactic surgery in some cases. The medical and emotional impact accompanying this decision-making process is obvious and best addressed by individuals with the necessary time and expertise to inform patients and their families as to their options and the consequences to their decisions. However, the process begins with discovery. The "Statement" was drafted and distributed to inform health care providers of those personal and familial characteristics that are associated with accelerated cancer risk. Importantly, the Statement draws attention not only to the well-understood breast and ovarian cancer association but also to the endometrial cancer predisposition in patients with the Lynch/Hereditary Non-Polyposis Colorectal Cancer syndrome. Patients with the latter syndrome are as likely to have an index case of endometrial cancer as they are to have colon cancer—a finding surprising to many unfamiliar with the genetic aberration and subsequent cancer profile. Indeed, affected family members also carry a 10% risk of ovarian cancer.

Healthcare providers are encouraged to make a detailed assessment of family history as part of their patients' personal medical survey. Posted guidelines and/or availability of brochures in the clinic that detail the type of information that can help patients better sleuth their family history can be an effective way to disseminate the message. While genetic testing is available and can provide an "answer," what's much more important is the "question" being asked, the counseling done before making a recommendation for testing and what to do with the information, positive or negative.