Significant Family History Of Breast Cancer Research Articles

Identification of factors that influence the decision to take chemoprevention in patients with a significant family history of breast cancer: results from a patient questionnaire survey.

Chemoprevention reduces the risk of developing breast cancer in women with increased family history (FH) risk of breast cancer. However, chemoprevention uptake remains low and the reasons for this remain unclear. Patients with moderate- or high-risk FH of breast cancer were counselled about chemoprevention (n = 1620; September 2015 to July 2018) in breast clinics. A postal questionnaire survey was subsequently sent to these patients in order to explore the potential factors influencing their decision on chemoprevention uptake. 518 patients (32%) completed the questionnaire survey; 75% were pre-menopausal and the majority had moderate as opposed to high-risk FH (87.5% vs. 12.5%). Breast cancer chemoprevention uptake rate was 10.8% (56/518). The identified incentives were more commonly stated for patients who took chemoprevention when compared to those who refused chemoprevention. The commonest incentives were breast cancer prevention (89.3% vs. 61.7%; p = 0.001), belief in the effectiveness of chemoprevention (76.8% vs. 63.4%; p = 0.048), and personal perception of breast cancer risk (67.9% vs. 45.5%; p = 0.002). Similarly, the identified barriers were more commonly stated for patients who refused chemoprevention when compared to those who took chemoprevention. The commonest barriers were side effects (79.4% vs. 55.4%; p = 0.001) and lack of information (53% vs. 28.6%; p = 0.001). Despite its proven efficacy, chemoprevention uptake in patients with a significant FH of breast cancer remains low. We have identified important factors which influence the patient's decision making. Future clinic consultations should focus on exploring these factors to aid patient decision making.

BRCA1 tumor expression and clinical outcome in Uruguayan breast cancer patients diagnosed before the age of 40 years.

e12028 Background: BRCA1 is one of the main susceptibility genes for breast cancer (BC). While BRCA1 mutations are rare in sporadic tumors, loss or reduction of gene expression have been reported in approximately 30-50% of sporadic BCs in the general population. From the molecular point of view, there is no clear characterization of these tumors in young women and we have found no studies reporting the rate of under-expression of BRCA1 in women with sporadic BC under 40 years of age. Objective: to assess the tumor expression of BRCA1 using immunohistochemistry (IHC) and its prognostic value in Uruguayan women diagnosed with BC before the age of 40 years. Methods: IHQ was used to analyze the tumor expression of BRCA1 in paraffin-embedded tumor samples of 40 BC patients diagnosed before the age of 40 between 01/01/2006 and 12/31/2012. The optimization and determination of the BRCA1 protein by IHC was centralized. The antibodies used were anti BRCA1 MS110 monoclonal antibodies against the N-terminal end and GLK-2 against the C-terminal end (amino acids 1839-1863). Expression was considered positive when >10% of the cells had nuclear and/or cytoplasmic labeling. Overall survival (OS) and disease free survival (DFS) were calculated; the curves were developed using the Kaplan-Meier method and the difference in survival was evaluated through the log rank test. Results: the average age of the 40 patients included was 36 years; 8 patients (20%) had significant family history of BC or ovarian cancer. The distribution by stage (S) was as follows: SI: 9 patients (22.5%); SII: 20 patients (50%); SIII: 10 patients (25%), and SIV: 1 patient. Regarding the biological profile: 17 patients (42.5%) were HER2- and ER/PR+, 13 (32.5%) were HER2+ and the remaining 10 patients (25%) were classified as triple negative. The 5-year OS and DFS were 73% and 60% respectively. The expression of BRCA1 with GLK-2 was ≤10% in 16 of the 40 patients included (40%). The 5-year OS and DFS for patients with ≤10% expression was 56% vs. 85% for patients with >10% (p = 0.015) and 40% vs. 72% (p = 0.034) respectively. The expression of BRCA1 by MS110 was ≤10% in 11 of the 40 patients included (27.5%). No statistically significant differences were found in the 5-year OS or DFS based on the expression of this marker. Conclusions: Decreased BRCA1 tumor expression as assessed by IHC using GLK-2 was found in 40% of young patients included and was associated with unfavorable prognosis.

Family history of breast cancer (BC) and biological and clinicopathologic features in Uruguayan BC patients

e11622 Background: Hereditary BC can have a distinct phenotype and behavior in comparison to sporadic BC. The aim of the present study was to investigate if there is any difference in the age at diagnosis, disease extension and biological profile in BC patients (pts) with or without a significant family history of BC. Methods: We retrospectively reviewed clinical charts of BC pts, stage 0- III who had surgery between March 2006 and March 2008. We included pts with known estrogen receptor (ER), progesterone receptor (PR) and HER2 status. The family history was obtained from the clinical charts and confirmed by a telephone interview with a standardized questionnaire. A significant family history of BC was defined by the presence of one of the following criteria: (1) 3 or more BC cases among close relatives, at least one diagnosed before 50 years (2) 2 BC cases among close relatives, at least one diagnosed before 50 years and one of the following: bilateral BC, ovarian cancer diagnosed in the family, male BC, father´s inheritance, Ashkenazi Jewish ancestry Results: 435 pts were identified, with available data on ER/PR and HER2 status in 197 pts. Family history was evaluated in 136 pts (69%) and was classified as significant in 18 (13.2%). Between pts with and without a significant family history of BC cancer there were no difference in the proportion of pts < 50 years old at diagnosis (0.36 vs. 0.39), T3/T4 tumours (0.08 vs. 0.11), axillary node positivity (0.55 vs 0.66), ER/PR+ (0.77 vs. 0.72), HER2 + (0.11 vs. 0.11) and triple negative tumors (0.19 vs 0.17). Conclusions: our data does not show any difference in the main prognostic and predictive factors between operable BC pts with and without a significant family history of BC. These findings are concordant with previous published data about a greater prevalence of BRCA2 mutations in Uruguayan families. No significant financial relationships to disclose.

Breast Cancer Risk Factors in Younger and Older Women

Information is lacking regarding the interaction of established breast cancer risk factors and patient age. We attempted to study this interaction in high-risk women at the extremes of age in our population. The Women-At-Risk Registry was queried for women who were < or =35 and > or =70 years of age. Enrollment criteria included: strong family history of breast cancer (FHBC), and/or biopsy-proven history of atypical ductal hyperplasia (ADH), atypical lobular hyperplasia (ALH), or lobular carcinoma in situ (LCIS). Descriptive analyses and Fisher's exact tests were used to analyze these factors and to assess their influence on breast cancer development. Our population included 1,412 high-risk women with median follow-up of 4 years. Of 195 women < or =35 years, 3 (1.5%) developed breast cancer. All three had strong FHBC and none had a prior high-risk lesion. Of 82 women > or =70 years, 6 (7.3%) developed breast cancer. Mean Gail score for women > or =70 years was 4.3, as compared with 4.7 in the subset of older women diagnosed with cancer. Fisher's tests demonstrated that ADH (p = 0.15), ALH (p = 1.0), LCIS (p = 1.0), and FHBC (p = 1.0) were not associated with breast cancer development in older women. We conclude that, for women < or =35 years, a significant FHBC may be a stronger predictor for breast cancer development than high-risk lesions. For women > or =70 years, FHBC and history of ADH, ALH, and LCIS were not predictors of breast cancer. This study emphasizes the importance of defining age-appropriate recommendations for breast cancer risk management, including surveillance and chemoprevention.