Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting

Abstract

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.

Reasons for Prophylactic Mastectomy in Women Carrying BRCA 1/2 Mutation: A Systematic Literature Review

“…However, in other study with a small sample of women carrying BRCA mutations, all 7 women underwent PO, while 5 (71%) underwent PM. Among the women who were not genetically tested, yet presenting a risk higher than 10% of having a BRCA mutation, 26% underwent PM, while 32% decided for PO [25]. Rueth et al [26] conducted a study with a 71 women sample that underwent PM; among these, only 25 (35.2%) had pre-surgery BRCA testing.…”

“…The average age of women who undergo mastectomy interventions was quite variable in the analysed studies; the age range was between 37 and 46 years of age, the majority had children and were married [18][19][20][21][22][23][24][25][26][27][28][29][30]. Women with a history of prior breast cancer are more likely to do prophylactic surgery instead of surveillance (p = 0.003) [20].…”

Screening for gynaecologic cancers in genetically predisposed women

“…Options include mastectomy rather than breast conservation after diagnosis of breast disease [87], contra-lateral prophylactic mastectomy [62] and bilateral risk reducing mastectomy [88,89]. The uptake of risk reducing options is highly variable [90,91] as it is with ovarian carcinoma [92].…”

Familial and genetic cancers in gynaecology

“…This method is most suited for women with a very high estimated breast cancer risk, mainly BRCA mutation positive patients. 12 Prophylactic bilateral mastectomy (in women without previous breast cancer diagnosis) may be skin-sparing but should include the nipple-areola complex. The incidence of premalignant (around 35%) and malignant lesions (6%) in specimens from women with known mutations is high despite normal radiology.…”