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PubMed2004

Social contract theory and just decision making: lessons from genetic testing for the BRCA mutations.

Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection--e.g., patents--of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA testing) in the context of the Canadian health insurance system as a case study, this paper applies concepts from social contract theory to help develop more just and rational approaches to health care decision making. Specifically, Daniel's and Sabin's "accountability for reasonableness" is compared to broader notions of public consultation, demonstrating that expert assessments in specific decisions must be transparent and accountable and supplemented by public consultation.

Breast Neoplasms↗
PubMed2002

Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.

Dedicated clinics have been established for the early diagnosis and treatment of women at risk for inherited breast cancer, but the effects of such interventions are currently unproven. This second report on prospectively diagnosed inherited breast cancer from the European collaborating centres supports the previous conclusions and adds information on genetic heterogeneity and the effect of oophorectomy. Of 249 patients, 20% had carcinoma in situ (CIS), 54% had infiltrating cancer without spread (CaN0) and 26% had cancer with spread (CaN+). Five-year survival was 100% for CIS, 94% for CaN0 and 72% for CaN+ (p = 0.007). Thirty-six patients had BRCA1 mutations, and 8 had BRCA2 mutations. Presence of BRCA1 mutation was associated with infiltrating cancer, high grade and lack of oestrogen receptor (p < 0.05 for all 3 characteristics). For BRCA1 mutation carriers, 5-year survival was 63% vs. 91% for noncarriers (p = 0.04). For CaN0 patients, mutation carriers had 75% 5-year disease-free survival vs. 96% for noncarriers (p = 0.01). Twenty-one of the mutation carriers had undergone prophylactic oophorectomy, prior to or within 6 months of diagnosis in 13 cases. All but 1 relapse occurred in the 15 who had kept their ovaries, (p < 0.01); no relapse occurred in those who had removed the ovaries within 6 months (p = 0.04) Contralateral cancer was more frequently observed in mutation noncarriers, but this finding did not reach statistical significance. Our findings support the concept that BRCA1 cancer is biologically different from other inherited breast cancers. While current screening protocols appear satisfactory for the majority of women at risk of familial breast cancer, this may not be the case for BRCA1 mutation carriers. The observed effect of oophorectomy was striking.

Adult↗
PubMed2005

Impact of teenage oral contraceptive use in a population-based series of early-onset breast cancer cases who have undergone BRCA mutation testing.

Oral contraceptive (OC) use in young women has been associated with an increased risk of breast cancer. This matched case-control study aims to elucidate the combined effects of OC use and genetic factors in a population-based series of BRCA1/2 mutation-tested early-onset breast cancers. A first invasive breast cancer was diagnosed in 259 women aged 40 years between 1990 and 1995 in the South Swedish Health Care Region. A total of 245 women were included in this study. Information on family history of cancer, reproductive factors, smoking and OC use was obtained from questionnaires or patient charts. Three age-matched controls per case were chosen from a prospective South Swedish cohort. Ever OC use and current OC use were not associated with breast cancer. Cases were more likely to have used OCs before age 20 years (adjusted odds ratio (OR) 2.10 (95% CI 1.32-3.33)) and before their first child (adjusted OR 1.63 (95% CI 1.02-2.62)). When stratified by age, the effect of early OC use was limited to women diagnosed prior to age 36 years (OR 1.53 (1.17-1.99) per year of OC use prior to age 20 years). The risks were similar for low-dose and high-dose OCs. The probability of being a BRCA1/2 mutation carrier was three times higher among cases who started OC use prior to age 20 years compared with cases who started at age 20 years or older or who had never used OCs. However, the duration of OC use was similar among cases with and without BRCA1/2 mutations. No association was seen with a first-degree family history of breast cancer. Each year of OC use prior to age 20 years conferred a significantly increased risk for early-onset breast cancer, while there was no risk associated with use after age 20 years.

Adolescent↗
PubMed2006

Age-dependent morphological alterations of human ovaries from populations with and without BRCA mutations.

OBJECTIVE: From analysis of pre-cancer ovarian tissues obtained from prophylactic oophorectomies, several studies reported the increased ovarian morphological changes in high-risk ovaries, but whether these morphological changes are associated with BRCA1/BRCA2 genotypes or are cancer precursors is controversial. Here, we have investigated a recent collection of ovaries from prophylactic oophorectomies and control ovaries from surgeries due to other non-ovarian-related cancer or non-neoplastic diseases to determine if ovarian morphological changes relate to BRCA1/2 genotypes or reproductive history. METHODS: We assembled a panel of archived ovarian tissues: 52 ovarian tissue blocks were from prophylactic oophorectomies of a high-risk (HR) population; 66 ovaries were from surgeries due to non-ovarian-related diseases, referred to as normal-risk (NR) group. The morphology of ovarian tissues was examined, and morphological changes including papillomatosis, invaginations, inclusion cysts, and epithelial stratification were assessed in a blinded fashion. RESULTS: No statistically significant difference in frequency of these histolopathologic features was found between HR and NR groups. However, inclusion cysts and deep invaginations were found much more commonly in women age 45-54 of either HR or NR groups. CONCLUSIONS: This study suggests that no significant increase in the presence of non-neoplastic ovarian morphological changes is associated with BRCA1/BRCA2 mutations. Rather, the frequency of these histological features, especially inclusion cysts, may associate with age or menopausal status. We propose that ovulatory and perimenopausal gonadotropin stimulation produces ovarian morphological changes, and these histological features may promote the transformation of genetically compromised epithelial cells in the development of ovarian cancer.

Age Factors↗
PubMed2000

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group.

The intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were given the appropriate questionnaires. Prophylactic mastectomy (PM) was considered by 21% of the Austrian mutation carriers (29% affected and 8% non-affected carriers). The majority of affected and non-affected carriers expected PM to impair the quality of their life. Fifty per cent would undergo prophylactic oophorectomy (53% affected and 46% non-affected carriers). The self-rating depression scale indicated that following mutation result disclosure the depression scores of carriers decreased (40 baseline vs 38 after result disclosure, P = 0.3), whereas, for non-carriers, scores increased (36 baseline vs 40 after result disclosure, P = 0.05). We conclude that information about carrier status is not associated with increased depression symptoms in mutation carriers. In non-carriers, depression scores increased slightly, probably reflecting survivor guilt. The option of having PM was associated with a negative impact on the quality of life and was declined by the majority of Austrian mutation carriers.

Adult↗