Hereditary cancer comprises more than 10% of all breast cancer cases. In patients with a family history suggestive of a hereditary component, a mutation is often identified in the high penetrant genes BRCA1 and BRCA2. Several founder mutations have been detected in some Jewish communities, yet no BRCA1/2 founder mutation had been known in Kurdish Jews. Here, we describe the validation of a 22 hereditary cancer gene panel and a BRCA1 mutation found in 4 women from 2 unrelated Kurdish Jewish families utilizing this gene panel. A panel spanning the coding sequences of 22 familial cancer-related genes was planned. Genomic DNA was taken to create libraries using this panel, which were then sequenced using the Ion Torrent PGM. The panel's validity in detecting mutations was tested on 25 samples with previously identified point mutations in the BRCA1, BRCA2, MLH1 and PMS2 genes; the panel did not test for large deletions or insertions. All previously identified mutations were detected. Next, a different set of 40 cancer patients of Kurdish Jewish descent diagnosed with cancer before the age of 50 years was tested. We identified the BRCA1 mutation, c.224_227delAAAG (dbSNP ID rs80357697), in 4 women from 2 unrelated Jewish Kurdish families. The probands were diagnosed with cancer at a young age and had significant family history, suggesting a founder mutation in this population. We suggest testing Kurdish Jewish women with a personal or family history of breast and/ or ovarian cancer for this mutation.

Background: The relationship between lymphocyte infiltrates (LIs) and breast cancer outcome remains controversial. We performed this meta-analysis to elucidate the relationship. Methods: A literature search identified 21 eligible studies. Results: 16,097 patients were included. Multivariate analyses data for patients with unspecified receptors status showed that rich LIs expression was associated with 52% (hazard ratio (HR) = 0.48; 95% confidence interval (CI), 0.30-0.77), and 29% (HR = 0.71; 95% CI, 0.63-0.80) reduction in the risk of relapse and death, respectively. In the neoadjuvant setting, rich LIs predicted a 28% increase in complete pathological response rate. The prognostic and predictive utility of rich LIs was restricted to patients with estrogen receptor negative (ER-) or triple negative disease. Only rich CD8+ T cells tumors demonstrated clinical utility. Conclusion: LIs significantly correlated to outcome predominantly in ER- tumors. Integrating immunotherapy with conventional therapy may warrant future research in breast cancer.

Breast cancer is the second leading cause of cancer death in women. Approximately 15-20% are triple negative breast cancer (TNBC: no protein expression of estrogen receptor, progesterone receptor, nor human epidermal growth factor receptor 2), representing one of the most challenging molecular subtypes of breast cancer. TNBC encompasses a heterogenous group of breast cancers that are not generally responsive to targeted therapies for hormone and growth factor receptors. Compared to their hormone receptor-positive counterparts, TNBC cases are associated with poor prognosis, worse overall survival and earlier recurrence. The purpose of this review is to describe the clinicopathologic features, molecular variants, associations with the BRCA genes, and therapeutic approaches for TNBC. New TNBC-targeted drug therapies are currently under investigation and include poly-ADP-ribose polymerase (PARP) inhibitors, platinum-based drugs, anti-epidermal growth factor receptor (EGFR) inhibitors, and anti-vascular endothelial growth factor receptor (VEGF) inhibitors. Both clinical trials and basic research are needed to further our understanding of the best treatment options for patients with TNBC. Keyword: Triple negative breast cancer.

Aim: The aim of this study was to correlate breast cancer by common breast cancer risk factors in the Sudan. Methodology: Using a purposeful questionnaire 150 female breast cancer patients and 100 apparently health controls were asked detailed information on about risk factors. Results: Out of the 150 women with breast cancer, 38 (25.3%), 22(14.7%), 26(17.3%), 20(13.3%), 21(14%), 11(7.3%), 72(48%), and 86(57.3%) were identified as having a previous history of oral contraceptives usage, a family history of breast cancer, a past history of benign breast disease, a previous history of breast cancer, a previous breast biopsy, claimed other cancers in their families, confessed a pesticides exposure, and over weigh in most of their lives respectively. Out of the 150 women, 44(29.3%) were found to have a previous physical activity. Moreover, 44.8% and 66.9% have attended the menarge at the age of 13 and 14 respectively. Of these factors, statistical significant risks were found with, past history of benign breast disease (P < 0.04), previous breast biopsies (P <0.07), pesticides and plasticizers exposure (P < 0.01 and 0.04), period of being over weight (P <0.001), practice physical activities (P <0.0001), unmarried (P <0.002), decreased number of children (P <0.002). According to the ethnic group, Gaalyaeen tribes represented 61(40.7%) of the study subjects. Most of the patients were from Khartoum state, constituting 37.3%. Conclusion: There was variable exposure to many risk factors for breast cancer in the Sudan. The study suggests further separate measurement of risk factors for breast cancer, as well as, factors that might reduce those risk factors. Cohort mean of evaluation is highly recommended.

Background: Most studies on cancer patient preferences and information needs have not focused specifically on elderly breast cancer patients. Objective: To determine factors which are taken into account by elderly breast cancer patients (>70 years of age) when deciding between primary endocrine therapy or surgery and between mastectomy or wide local excision. Methods: Cross-sectional study of 34 female breast cancer patients who were at least 70 years of age at the time of diagnosis. Structured interviews were conducted either after a follow-up clinic appointment or at home via a telephone interview. Results: Seventy-six per cent of patients were given a choice of treatment and the patients who felt that they were not given a choice did not prefer to choose. Forty-two per cent of patients chose primary endocrine therapy based on the surgeon's recommendation. The same proportion reported that they were afraid of surgery. A quarter wanted to try tablets first and were prepared to undergo surgery if unresponsive. All patients who chose a modified radical mastectomy +/- axillary node clearance or sampling felt that it was safer and wanted to avoid the possibility of further surgery. All patients were satisfied with the amount of information provided and emphasized that the service provided by breast care nurses was invaluable. Conclusion: Not all patients based their decision on the surgeon's recommendation. Some patients were not given any recommendation. Individual preferences of patients should be determined and the management plan should be tailored accordingly.

Introduction: Male breast cancer (MBC) is a rare condition, which accounts for less than 1% of all breast cancer diagnoses. Because of this, there is a paucity of focussed work available and most data is derived from female breast cancer studies. Recently, there has been speculation of increased incidence, and we sought to verify this by reviewing our own experience with MBC. Methods and Materials: A retrospective analysis was designed to include patients seen at our institution from 1 st July, 2000 until 31 st July 2009, and information was derived from the patients' records. Results: Seven (7) patients were found, with an average age of 66.6 years. All patients had discovered their lumps on self- breast examination as their main presenting complaint, and none noted any other breast symptoms such as mastalgia, bleeding or discharge. Four (4) patients were found to have a family history for malignancy, including female breast, prostate, lung and gastric cancers and Hodgkin lymphoma. Two (2) patients were found to have been exposed to gynaecomastia-inducing agents for extended periods of time. One (1) patient had undergone chest wall irradiation for Hodgkin lymphoma 30 years prior to his diagnosis of MBC. 86% were diagnosed on histology, with 100% of these having ductal cancer, with 100% oestrogen-receptor positivity and 86% progesterone-receptor positivity. Conclusion: Patients with MBC are an uncommon within our institution. Features associated with its presentation compare to what is published within the literature.

Primary cilia are non-motile, microtubule-based appendages extending from the surfaces of most vertebrate cells. The function of primary cilia is cell-type dependent. However, they are known to serve as sensors of the extracellular environment by sensing mechanical forces and chemical constituents in several different cell types. They also function as critical platforms for several signaling pathways, including hedgehog and platelet derived growth factor (PDGF) signaling, and function in maintaining cell polarity. While present on many types of normal cells, including epithelial cells of the breast, they have been shown to be decreased or absent in many cancers. This review discusses the relative decrease in primary cilia in a variety of cancers and the known consequences of the presence or absence of primary cilia during tumorigenesis. This review also addresses possible etiologies for the loss of primary cilia in cancer, potential functions for primary cilia in human breast epithelium and subsequent consequences of the loss of primary cilia during breast carcinogenesis.

Compared to epithelial lesions, spindle-cell lesions of the breast are relatively uncommon and, because of that, may cause diagnostic difficulty. The majority of these spindle cell lesions, such as fibromatosis, nodular fasciitis, spindle- cell carcinoma, inflammatory myofibroblatic tumor and angiosarcoma, resemble their more common non-mammary counterparts. A few others, such as pseudoangiomatous stromal hyperplasia for example, specifically arise in breast. This review discusses these mammary spindle cell lesions with a focus on their salient histological features.

Columnar cell change in breast epithelium is frequently encountered in biopsies performed for evaluation of radiographically detected microcalcifications. While columnar cell change by itself is typically of no clinical consequence, on occasion cytologic atypia may be present, a finding now termed flat epithelial atypia (FEA). Morphologic, immunophenotypic, and genetic associations between FEA and low grade in situ and invasive breast carcinomas provide compelling evidence that FEA represents a precursor lesion in the spectrum of low grade breast neoplasia. Despite this information, the ultimate clinical impact of FEA and, thus, the best management strategy for it remains unknown. Herein, current concepts regarding FEA are reviewed, including pathologic definition, evidence supporting its role as a neoplastic precursor, and suggested management strategies.