Hereditary Breast Cancer: BRCA Mutations and Beyond.

Hereditary breast cancers are manifested by pathogenic and likely pathogenic genetic mutations. Penetrance expresses the breast cancer risk associated with these genetic mutations. Although BRCA1/2 are the most widely known genetic mutations associated with breast cancer, numerous additional genes demonstrate high and moderate penetrance for breast cancer. This review describes current genetic testing, details the specific high and moderate penetrance genes for breast cancer and reviews the current approach to screening for breast cancer in patients with these genetic mutations.

Molecular Breast Imaging and Positron Emission Mammography.

There is growing interest in application of functional imaging modalities for adjunct breast imaging due to their unique ability to evaluate molecular/pathophysiologic changes, not visible by standard anatomic breast imaging. This has led to increased use of nuclear medicine dedicated breast-specific single photon and coincidence imaging systems for multiple indications, such as supplemental screening, staging of newly diagnosed breast cancer, evaluation of response to neoadjuvant treatment, diagnosis of local disease recurrence in the breast, and problem solving. Studies show that these systems maybe especially useful for specific subsets of patients, not well served by available anatomic breast imaging modalities.

Imaging Surveillance of the Reconstructed Breast in a Subset of Patients May Aid in Early Detection of Breast Cancer Recurrence.

OBJECTIVES: The purpose of this study is to determine the biological markers more frequently associated with recurrence in the reconstructed breast, to evaluate the detection method, and to correlate recurrent breast cancers with the detection method. MATERIAL AND METHODS: An institutional review board-approved retrospective study was conducted at a single institution on 131 patients treated with mastectomy for primary breast cancer followed by breast reconstruction between 2005 and 2012. Imaging features were correlated with clinical and pathologic findings. RESULTS: Of the 131 patients who met our inclusion criteria, 40 patients presented with breast cancer recurrence. The most common histopathologic type of primary breast cancer was invasive ductal carcinoma in 82.5% (33/40) of patients. Triple-negative breast cancer was the most common biological marker with 42.1% (16/38) of cases. Clinically, 70% (28/40) of the recurrences presented as palpable abnormalities. Of nine patients who underwent mammography, a mass was seen in eight patients. Of the 35 patients who underwent ultrasound evaluation, an irregular mass was found in 48.6% (17/35) of patients. Nine patients with recurrent breast cancer underwent breast MRI, and MRI showed an irregular enhancing mass in four patients, an oval mass in four patients, and skin and trabecular thickening in one patient. About 55% of patients with recurrent breast cancer were found to have distant metastases. CONCLUSION: Patients at higher risk for locoregional recurrence may benefit from imaging surveillance in order to detect early local recurrences.

MRI for the Staging and Evaluation of Response to Therapy in Breast Cancer.

Breast magnetic resonance imaging (MRI) is the most sensitive of the available imaging modalities to characterize breast cancer. Breast MRI has gained clinical acceptance for screening high-risk patients, but its role in the preoperative imaging of breast cancer patients remains controversial. This review focuses on the current indications for staging breast MRI, the evidence for and against the role of breast MRI in the preoperative staging workup, and the evaluation of treatment response of breast cancer patients.

Multimodality Imaging for Evaluating Response to Neoadjuvant Chemotherapy in Breast Cancer.

OBJECTIVE: Neoadjuvant chemotherapy is becoming the standard of care for patients with locally advanced breast cancer. Conventional imaging modalities used for the assessment of tumor response to neoadjuvant chemotherapy rely on changes in size or morphologic characteristics and, therefore, are inherently limited. CONCLUSION: Functional imaging technologies evaluate vascular, metabolic, biochemical, and molecular changes in cancer cells and have a unique ability to detect specific biologic tumor markers, assess therapeutic targets, predict early response to neoadjuvant chemotherapy, and guide individualized cancer therapy.