Guidelines for Evaluation of Patients at Risk for Inherited Breast and Ovarian Cancer: Recommendations of the Department of Defense Familial Breast/Ovarian Cancer Research Project

Abstract

Patients at high risk for inherited breast and/or ovarian cancer are frequently encountered in all medical specialties. Department of Defense, Health Affairs funding as part of the Breast Cancer Education and Awareness Program was used to develop a comprehensive program for the identification, counseling, genetic testing, and long-term follow-up of such high-risk patients. This article reports the recommendations for high-risk patient management based on 4 years of evaluation and care, including discussions of the approach to counseling, indications for genetic testing, post-testing counseling, patient surveillance with examination, imagining, and laboratory testing, and suggested options for surgical and chemoprophylaxis as well as lifestyle modifications.

Social‐cognitive aspects of underserved Latinas preparing to undergo genetic cancer risk assessment for hereditary breast and ovarian cancer

“…GCRA has the potential to identify women at increased breast cancer risk prior to disease onset, when early detection or prevention strategies are most effective [27][28][29][30][31][32]. GCRA includes a review of personal and family history and a discussion of genetic principles and the potential risks, benefits and limitations of genetic testing.…”

Effects of a cancer genetics education programme on clinician knowledge and practice

“…[1][2][3][4][5][6][7] The risk assessment process involves cancer risk genetic counselling and diagnostic or predictive germline genetic testing when indicated, and is now considered standard care for such syndromes as multiple endocrine neoplasia types I and II, familial adenomatous polyposis, and von Hippel-Lindau disease, as well as for disorders seen more commonly in clinical practice, such as hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer. [8][9][10][11][12][13][14] While physicians are increasingly aware of advances in genetic technology, many are not adequately trained to recognise the features of hereditary cancer predisposition that warrant referral for risk assessment, and some do not view this service as a health care priority because they are unaware of the potential benefits of genetic testing to the patient. [15][16][17][18][19][20][21] Educational resources, professional practice guidelines, and a robust literature on practical issues in cancer risk assessment are emerging, 9 22-26 but limited knowledge among primary care physicians and other healthcare providers who influence patient referrals remains a significant barrier to appropriate utilisation of cancer risk assessment services.…”

Genetic discrimination: the clinician perspective

“…Identifying individuals with hereditary cancer risk can lead to more effective surveillance and risk‐reduction measures (1–5). Genetic cancer risk assessment is considered standard of care for numerous heritable cancer syndromes, including familial adenomatous polyposis, multiple endocrine neoplasia types I and II, Von Hipple Lindau disease, hereditary breast/ovarian cancer syndrome and hereditary non‐polyposis colorectal cancer syndrome (6–10).…”