Prospective multicenter cohort study of estrogen and insulin-like growth factor system in BRCA mutation carriers.

PURPOSE: Major clinical characteristics of BRCA1/2-related cancers include association with estrogen and metabolic consequences. We aimed to evaluate serum estradiol (E2) and insulin-like growth factor 1 (IGF-1) levels as a marker of insulin resistance in BRCA1/2 mutation carriers and high-risk, BRCA-negative controls. METHODS: Eligible cancer-free women (age 18-42 with regular menstrual cycles) who had been screened for BRCA1/2 mutations between 2005 and 2013 completed a questionnaire and underwent a single blood draw. E2 was measured with radioimmunoassay, and IGF-1 was measured with enzyme-linked immunosorbent assay. RESULTS: Eighty-six women participated (44 carriers and 42 non-carriers) in this study. BRCA mutation carriers were significantly younger than non-carriers (p = 0.0002). Age-adjusted basal (menstrual cycle days 2-5) serum E2 level was not significantly different between BRCA mutation carriers and non-carriers (30.4 vs. 24.7 pg/mL, p = 0.07). BRCA mutation carriers have significantly lower age-adjusted serum IGF-1 levels compared to non-carriers (89.7 vs. 112.6 ng/mL, p < 0.001). In women with BRCA mutations, the risk of having low serum IGF-1 level (IGF-1: ≤85 ng/mL) was 10.7 times as great as that of women without BRCA mutations (95 % CI 2.5, 46.2). There was a significant inverse association between basal E2 and IGF-1 levels in BRCA mutation carriers after adjusting age and BMI (p = 0.03). CONCLUSIONS: IGF-1 level is significantly lower in cancer-free BRCA mutation carriers versus BRCA-negative controls, and there is a potential association between E2 and IGF-1 in cancer-free BRCA mutation carriers. Our findings may instigate future studies evaluating the role of both E2 and IGF-1 in BRCA mutation carriers.

A pilot study about female adolescent/young childhood cancer survivors' knowledge about reproductive health and their views about consultation with a fertility specialist.

OBJECTIVE: Impaired fertility and reproductive health after cancer treatment is an important quality-of-life issue among female childhood cancer survivors (CCSs). This study aims to measure female CCSs' knowledge about their reproductive health and their exposure to and views about reproductive counseling (RC). METHOD: This is a cross-sectional, web-survey study of female CCSs aged 18 to 45 years who were diagnosed with cancer before age 21 years and currently had no evidence of disease. RESULTS: Fifty-six CCSs participated (response rate = 48%; mean current age = 26). Knowledge about reproductive health after cancer treatment was severely limited within this sample of highly educated survivors (91% educated beyond high school), who provided correct answers only 32% of the time. Only 9 and 5% of the women had pursued RC with a fertility specialist before and after cancer treatment, respectively. The majority thought they had not been provided enough information about reproductive health. White ethnicity (p < 0.001), higher annual income (p = 0.007), and higher education level (p = 0.02) were significantly associated with a positive opinion about RC. SIGNIFICANCE OF RESULTS: A limited number of CCSs took advantage of RC in spite of their high interest in and limited knowledge about reproductive issues. Targeted referrals for RC may allow for improved decision making about reproductive options.

A pilot study of BRCA mutation carriers' knowledge about the clinical impact of prophylactic-oophorectomy and views on fertility consultation: a single-center pilot study.

BRCA mutation carriers will experience early surgically induced menopause following prophylactic bilateral salpingo-oophorectomy (PBSO). This pilot study aimed to investigate their (1) knowledge about the clinical impact of PBSO; (2) views on fertility consultation (FC)/fertility preservation (FP) treatment; and (3) difficulties in conceiving compared to non-carriers. A cross-sectional, single institution web-survey was performed at a university-based IVF center. Women aged 18-50 years who were screened for BRCA gene mutations from 2005 to 2013 were recruited via mail. Forty-one BRCA-positive and 110 BRCA-negative women completed the survey (response rate: 50 %). The knowledge about the reproductive impact of PBSO was limited, with the majority of women in this highly educated sample only identifying the correct response 64 % of the time. Among BRCA mutation carriers, 24 (59 %) had positive views about FC/FP treatments. A larger proportion of women with no children at the time of BRCA testing, and those who were non-white tended to have positive views toward FP. Women with, versus without, BRCA mutations were more likely to have difficulty in conceiving (p = 0.08). This well-educated group had limited knowledge about the reproductive clinical impact of PBSO, or the benefit of a FP before PBSO. Most women with BRCA mutations were interested in FC/FP treatment if they had not completed childbearing at the time of screening. Targeted referrals for FC at the time of BRCA screening may help women improve knowledge and allow improved decision-making about reproductive options.