Assessing Biomarkers of Breast Cancer Risk in Underserved Women in a Midwestern County.

OBJECTIVE: The primary aim of this study was to evaluate the feasibility of collecting risk factor information and accessing digitized mammographic data in a medically marginalized population. A secondary aim was to examine the association between vitamin D status and mammographic density. METHODS: Breast-screening examinations were provided for age-appropriate patients, and a referral for no-cost screening mammography was offered. Study participants were asked to undergo 25-hydroxyvitamin D testing at mammography and 1-year follow-up. RESULTS: Of 62 women approached, 35 (56%) consented to participate. Of 32 participants who had baseline mammography, the median mammographic density measured by VolparaDensity (Volpara Solutions Limited) was 5.7%. After 1 year, 9 women obtained follow-up mammograms, with a median density of 5.7%. Vitamin D status was measured for 31 participants at baseline and 13 participants in the following year. Insufficient vitamin D status (<30 ng/mL) was noted in 77% at each time point. Mammographic density was not significantly correlated with vitamin D status (P = .06). CONCLUSIONS: On the basis of this small pilot study, vitamin D insufficiency is common in this study population. Owing to the small sample size, an association between vitamin D insufficiency and breast density was not clear. Additional unexpected findings included substantial barriers in initial access to care and longitudinal follow-up in this population. Further study of these issues is needed.

Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake.

Endocrine therapy is underutilized to reduce breast cancer incidence among women at increased risk. Polygenic risk scores (PRSs) assessing 77 breast cancer genetic susceptibility loci personalizes risk estimates. We examined effect of personalized PRS breast cancer risk prediction on intention to take and endocrine therapy uptake among women at increased risk. Eligible participants had a 10-year breast cancer risk ≥5% by Tyrer-Cuzick model [International Breast Cancer Intervention Study (IBIS)] or ≥3.0 % 5-year Gail Model risk with no breast cancer history or hereditary breast cancer syndrome. Breast cancer risk was estimated, endocrine therapy options were discussed, and endocrine therapy intent was assessed at baseline. After genotyping, PRS-updated breast cancer risk estimates, endocrine therapy options, and intent to take endocrine therapy were reassessed; endocrine therapy uptake was assessed during follow-up. From March 2016 to October 2017, 151 patients were enrolled [median (range) age, 56.1 (36.0-76.4 years)]. Median 10-year and lifetime IBIS risks were 7.9% and 25.3%. Inclusion of PRS increased lifetime IBIS breast cancer risk estimates for 81 patients (53.6%) and reduced risk for 70 (46.4%). Of participants with increased breast cancer risk by PRS, 39 (41.9%) had greater intent to take endocrine therapy; of those with decreased breast cancer risk by PRS, 28 (46.7%) had less intent to take endocrine therapy (P < 0.001). On multivariable regression, increased breast cancer risk by PRS was associated with greater intent to take endocrine therapy (P < 0.001). Endocrine therapy uptake was greater among participants with increased breast cancer risk by PRS (53.4%) than with decreased risk (20.9%; P < 0.001). PRS testing influenced intent to take and endocrine therapy uptake. Assessing PRS effect on endocrine therapy adherence is needed.Prevention Relevance: Counseling women at increased breast cancer risk using polygenic risk score (PRS) risk estimates can significantly impact preventive endocrine therapy uptake. Further development of PRS testing to personalize breast cancer risk assessments and endocrine therapy counselling may serve to potentially reduce the incidence of breast cancer in the future.

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

PURPOSE: To determine the sensitivity and specificity of genetic testing criteria for the detection of germline pathogenic variants in women with breast cancer. MATERIALS AND METHODS: Women with breast cancer enrolled in a breast cancer registry at a tertiary cancer center between 2000 and 2016 were evaluated for germline pathogenic variants in 9 breast cancer predisposition genes (ATM, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, and TP53). The performance of the National Comprehensive Cancer Network (NCCN) hereditary cancer testing criteria was evaluated relative to testing of all women as recommended by the American Society of Breast Surgeons. RESULTS: Of 3,907 women, 1,872 (47.9%) meeting NCCN criteria were more likely to carry a pathogenic variant in 9 predisposition genes compared with women not meeting criteria (9.0% v 3.5%; P < .001). Of those not meeting criteria (n = 2,035), 14 (0.7%) had pathogenic variants in BRCA1 or BRCA2. The sensitivity of NCCN criteria was 70% for 9 predisposition genes and 87% for BRCA1 and BRCA2, with a specificity of 53%. Expansion of the NCCN criteria to include all women diagnosed with breast cancer at ≤ 65 years of age achieved > 90% sensitivity for the 9 predisposition genes and > 98% sensitivity for BRCA1 and BRCA2. CONCLUSION: A substantial proportion of women with breast cancer carrying germline pathogenic variants in predisposition genes do not qualify for testing by NCCN criteria. Expansion of NCCN criteria to include all women diagnosed at ≤ 65 years of age improves the sensitivity of the selection criteria without requiring testing of all women with breast cancer.

Intermediate and long-term outcomes of fibroadenoma excision in adolescent and young adult patients.

Fibroadenomas are benign breast masses that often occur in adolescence and young adulthood. Primary management options include observation or surgical excision, but little is known about long-term outcomes after fibroadenoma excision in adolescents. In the present study, we reviewed the medical records of females aged 13-35 years who underwent fibroadenoma excision at our institution from 1986 through 2010. Patients were included if they had excision of at least 1 fibroadenoma (confirmed by histopathology) smaller than 5 cm in maximal diameter. We collected information pertaining to clinical presentation, management, and outcomes. In addition, an investigator-designed long-term outcome survey was sent to 138 eligible participants to assess patient satisfaction, as well as the recurrence of fibroadenoma, and the need or desire for further surgical intervention. Most patients (126 of 138) underwent 1 operation for fibroadenoma excision. Three women underwent immediate breast reconstruction at fibroadenoma excision. Fifty-seven patients completed the investigator-designed survey (response rate, 41.3%) with a median follow-up time of 13.5 (range, 2.0-26.7) years. Nine of 55 patients (16.4%) reported postoperative breast asymmetry and the desire to pursue reconstructive surgery. Three survey responders reported breast pain. Fourteen of 56 women (25.0%) reported the diagnosis of 1 or more additional fibroadenomas after the initial excision; another 7 reported recurrence of the mass at the site of excision. Most survey participants were satisfied with the aesthetic outcome of their fibroadenoma excision; however, a small proportion believed that they would benefit from reconstructive breast surgery. The recurrence and development of additional fibroadenomas should be addressed by providers during counseling for treatment options and postoperative follow-up.

Medical factors influencing decision making regarding radiation therapy for breast cancer.

Radiation therapy is an important and effective adjuvant therapy for breast cancer. Numerous health conditions may affect medical decisions regarding tolerance of breast radiation therapy. These factors must be considered during the decision-making process after breast-conserving surgery or mastectomy for breast cancer. Here, we review currently available evidence focusing on medical conditions that may affect the patient-provider decision-making process regarding the use of radiation therapy.

Diagnosis and management of benign, atypical, and indeterminate breast lesions detected on core needle biopsy.

Imaging abnormalities detected by mammographic screening often lead to diagnostic evaluations, with suspicious abnormalities subjected to image-guided core needle biopsy (CNB) to exclude malignancy. Most CNBs reveal benign pathological alterations, termed benign breast disease (BBD). Adoption of CNB presents challenges with pathologic classification of breast abnormalities and management of patients with benign or atypical histological findings. Patient management and counseling after CNB diagnosis of BBD depends on postbiopsy determination of radiologic-pathologic concordancy. Communication between radiologists and pathologists is crucial in patient management. Management is dependent on the histological type of BBD. Patients with concordant pathologic imaging results can be reassured of benign biopsy findings and advised about the future risk of developing breast cancer. Surgical consultation is advised for patients with discordant findings, symptomatic patients, and high-risk lesions. This review highlights benign breast lesions that are encountered on CNB and summarizes management strategies. For this review, we conducted a search of PubMed, with no date limitations, and used the following search terms (or a combination of terms): atypical ductal hyperplasia, atypical hyperplasia, atypical lobular hyperplasia, benign breast disease, cellular fibroepithelial lesions, columnar cell lesions, complex sclerosing lesion, core needle biopsy, fibroadenomas, flat epithelial atypia, lobular carcinoma in situ, lobular neoplasia, mucocele-like lesions, phyllodes tumor, pseudoangiomatous stromal hyperplasia, radial scar, and vascular lesions. The selection of references included in this review was based on study relevance and quality. We used additional articles culled from the bibliographies of retrieved articles to examine the published evidence for risk factors of BBD.

Factors associated with surgical decision making in women with early-stage breast cancer: a literature review.

BACKGROUND: Current recommendations for surgical management of early-stage breast cancer include breast-conserving surgery with postoperative irradiation. However, studies show that mastectomy is still being used by women with early-stage breast cancer. METHODS: Review of the medical literature published between 2000 and 2010 to determine the factors associated with the decision of patients for surgical treatment in early-stage breast cancer. RESULTS: The following patient characteristics affect the surgical decision-making process in early-stage breast cancer: age, socioeconomic factors, geographic area in which the patient lives, proximity to a radiation therapy center, testing for BRCA gene, breast imaging, and decision aids. CONCLUSIONS: Of increasing importance in the decision making about treatment of women with early-stage breast cancer are the woman's perception of having a surgical choice and the influence of that choice on postoperative quality of life.

Breast manifestations of systemic diseases.

Although much emphasis has been placed on the primary presentations of breast cancer, little focus has been placed on how systemic illnesses may affect the breast. In this article, we discuss systemic illnesses that can manifest in the breast. We summarize the clinical features, imaging, histopathology, and treatment recommendations for endocrine, vascular, systemic inflammatory, infectious, and hematologic diseases, as well as for the extramammary malignancies that can present in the breast. Despite the rarity of these manifestations of systemic disease, knowledge of these conditions is critical to the appropriate evaluation and treatment of patients presenting with breast symptoms.

Clinician's guide to imaging and pathologic findings in benign breast disease.

The discussion of abnormal results of breast imaging and abnormal pathologic findings can be challenging for health care professionals and often is stressful for patients. Although most imaging findings and biopsy results are negative and do not infer a substantial increase in breast cancer risk, the subsequent conversation between the patient and her practitioner is more effective and informative with a thorough review of the pathologic results and an appreciation of the importance of radiologic-histologic concordance. This article provides insight into and understanding of breast imaging and biopsy techniques and of histologic findings as a means to timely and appropriate decision making and action by the patient and her health care professional.

Promoting a breast cancer screening clinic for underserved women: a community collaboration.

OBJECTIVE: To increase breast cancer (BC) awareness, screening services, and education for local underserved women. DESIGN: Mayo Clinic launched a twice-monthly, half-day outreach breast clinic composed of 3 women physicians, a nurse and medical interpreters. SETTING: Community Adult Literacy Learning Center in Rochester, Minnesota. PATIENTS: Underserved women from immigrant and minority backgrounds in Rochester. INTERVENTIONS: The clinic offered clinical breast examinations, breast imaging, follow-up appointments, assistance in accessing government paid health coverage programs, educational classes, transportation vouchers, and follow-up surveys. MAIN OUTCOME MEASURES: We assessed the number of patients seen, number of mammograms, breast sonograms, number of patients diagnosed with BC, number of interpreters, quantity of transportation vouchers and results of follow-up surveys. RESULTS: Between December 1, 2005 and July 31, 2009 there were 177 patient visits (including 46 follow-up visits) provided to 131 women on 58 days spent in the clinic. One hundred thirteen women (86.3%) had mammograms, sonograms, or both. Screening identified one woman with a diagnosis of breast cancer, 5 with symptomatic breast cysts and 3 women who underwent breast biopsy after a suspicious lesion was identified with breast imaging. One hundred and twenty women required an interpreter for the initial examination and mammogram visit. Transportation vouchers were used by 51 women. All follow-up surveys indicated overall satisfaction with the breast clinic, services and screening procedures. CONCLUSIONS: For effective breast screening of underserved in a community setting, it is important to address racial/ethnic background, socioeconomic status, English language proficiency, and access to health care in general.

Occult breast carcinoma presenting as gastrointestinal metastases.

Occult breast cancer has frequently been described as presenting as axillary lymph node metastases but rarely as gastrointestinal metastases, Varadarajan et al. (2007). In extremely rare situations, cancerous lesions identified in the gastrointestinal tract have been determined to be metastatic lesions from primary breast cancers, Taal et al. (2000). We report a case of an occult lobular adenocarcinoma presenting as gastrointestinal metastases. It is essential that the possibility of lesions found in the gastrointestinal tract originating from distant or occult cancers be considered in order that appropriate therapeutic options may be discussed and considered early after diagnosis.

Frequency format diagram and probability chart for breast cancer risk communication: a prospective, randomized trial.

BACKGROUND: Breast cancer risk education enables women make informed decisions regarding their options for screening and risk reduction. We aimed to determine whether patient education regarding breast cancer risk using a bar graph, with or without a frequency format diagram, improved the accuracy of risk perception. METHODS: We conducted a prospective, randomized trial among women at increased risk for breast cancer. The main outcome measurement was patients' estimation of their breast cancer risk before and after education with a bar graph (BG group) or bar graph plus a frequency format diagram (BG+FF group), which was assessed by previsit and postvisit questionnaires. RESULTS: Of 150 women in the study, 74 were assigned to the BG group and 76 to the BG+FF group. Overall, 72% of women overestimated their risk of breast cancer. The improvement in accuracy of risk perception from the previsit to the postvisit questionnaire (BG group, 19% to 61%; BG+FF group, 13% to 67%) was not significantly different between the 2 groups (P = .10). Among women who inaccurately perceived very high risk (> or = 50% risk), inaccurate risk perception decreased significantly in the BG+FF group (22% to 3%) compared with the BG group (28% to 19%) (P = .004). CONCLUSION: Breast cancer risk communication using a bar graph plus a frequency format diagram can improve the short-term accuracy of risk perception among women perceiving inaccurately high risk.