The context is that there are limited data regarding the management of women at risk for hereditary breast and ovarian cancer (HBOC) after genetic counseling in the community setting. The objective of the study is to examine the cancer screening and prevention behaviors among women with diverse risk factors for HBOC, counseled through a non-academic genetic counseling service. This study was designed as a retrospective telephone survey. A community/private-hospital based cancer genetic counseling service was setting. The patients studied were women, at least 21 years of age, who had undergone cancer genetic counseling with: (1) a >or=10% predicted likelihood of carrying a BRCA1/2 mutation; (2) a documented BRCA1/2 mutation. A 121-item telephone survey was intervened. Main outcome measures are (1) reason for referral, (2) genetic testing/results, and (3) screening and prevention behaviors. Sixty-nine women participated (31% response rate). Forty-nine (71%) respondents had a history of breast cancer. Forty-three women (62%) reported undergoing BRCA1/2 testing, of these, seven (16%) had a deleterious mutation; 32 (74%) received negative results and four (9%) had "inconclusive" findings. Among the seven with documented mutations; five had a personal history of breast cancer; none had a history of ovarian cancer; all had undergone bilateral salpingo-oophorectomy (BSO), while five (71%) had undergone bilateral mastectomy. Among those 62 respondents without a documented mutation, pretest likelihood of a BRCA1/2 mutation (based on established models) was as follows: 10-29% likelihood in 38 (61%); 30-59% likelihood in 16 (26%); and >or=60% likelihood in eight (13%). Of these, 16 (26%) had undergone bilateral mastectomy for treatment and/or risk-reduction while 20 (32%) had undergone BSO for risk-reduction or for "other reasons". Almost all who had not undergone bilateral mastectomy were presenting for regular mammograms; fewer were undergoing regular breast MRI imaging. For those who had not undergone risk-reducing BSO; few were having CA-125 levels or transvaginal ultrasounds. Among those studied, the majority underwent genetic testing. A significant percentage elected to undergo risk-reducing mastectomy and BSO. Although prophylactic surgical decisions appeared to be largely influenced by BRCA mutation status, a number of women in the lower risk categories had undergone these procedures.
Clinical surveillance for breast, endometrial, thyroid, and renal cell carcinoma risks associated with Cowden syndrome according to the National Comprehensive Cancer Network guidelines, annual MRI of the neck, thorax, abdomen and pelvis, annual metabolic screening, and where available, annual 18-fluorodopamine PET scanning, predictive genetic testing of both PTEN and SDHC for the patient's daughter and parents.
Data are limited regarding barriers to care among women, with or at risk for hereditary breast and ovarian cancer (HBOC), following genetic counseling in the community setting. Using a telephone survey, we retrospectively addressed perceptions of post-genetic counseling medical care and barriers to care among 69 at-risk women from the non-academic setting. Of these, all agreed that following cancer screening recommendations was better than not following them; none felt recommendations were too difficult to follow; all believed screening would help keep them healthy; 57% believed screening would prevent cancer. Twenty-five percent noted discomfort with breast imaging; 29% found ovarian cancer screening uncomfortable. Close to a quarter of participants reported difficulty deciding whether or not to undergo risk-reducing mastectomy while 10% noted difficulty deciding for or against bilateral salpingo-oophorectomy. There were no perceived major barriers to care, although 38% felt that screening reminders would be helpful, and 10% needed more help in following through with care. Overall, participants believed that they were benefiting from their post-genetic counseling medical care. This work identified HBOC-related support needs to include: informational resources that promote improved understanding of cancer risk and high-risk management; screening reminder systems; and decision support tools.
These results have implications for interdisciplinary communication and decision support for those with or at risk for HBOC, cared for in the community setting.
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