Early age at onset is generally considered an indicator of genetic susceptibility to breast cancer. To address both the proportion of early-onset breast cancer associated with BRCA-1 or BRCA-2 germline mutation and the contribution of germline mutations to the clinical features and outcome of these tumors, we analyzed molecular status and clinical variables of a population-based sample of 66 It...

PURPOSE We investigated the relationship between BRCA mutations, pathological findings, and magnetic resonance imaging (MRI) features in patients with breast cancer at risk for the mutation. METHODS Genetic testing for BRCA mutations was performed in 275 breast cancer patients with at least one risk factor for the mutation. Using the breast imaging reporting and data system MR lexicon, morpho...

BACKGROUND Mutations in the BRCA1 and BRCA2 genes are associated with increased risk of breast, ovarian, and several other cancers. The purpose of the present study was to evaluate the incidence of cancer in first- and second-degree relatives of BRCA mutation carriers compared with the general population. MATERIALS AND METHODS A total of 1,086 pedigrees of BRCA mutation carriers was obtained ...

BACKGROUND This study sought to estimate the risk of breast cancer (BC) after a diagnosis of ovarian cancer (OC) associated with mutation of the BRCA1/2 (breast cancer, early onset) genes (BRCA-OC). METHODS The Memorial Sloan-Kettering Cancer Center and the University of Pennsylvania, clinical genetics databases were searched to identify women with BRCA-OC who participated in genetic testing ...

abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...

BACKGROUND Nipple-sparing mastectomy (NSM) is associated with improved cosmesis and is being performed increasingly. Its role in BRCA mutation carriers has not been well described. This was a study of the indications for, and outcomes of, NSM in BRCA mutation carriers. METHODS BRCA mutation carriers who underwent NSM were identified. Details of patient demographics, surgical procedures, compl...

Screening for BRCA 1 and BRCA 2 mutations has long moved from the research lab to the clinic as a routine clinical genetic testing. BRCA molecular alteration pattern varies among ethnic groups which makes it already a less straightforward process to select the appropriate mutations for routine genetic testing on the basis of known clinical significance. The present report comprises an in depth ...

BRCA germline mutations are the most common predisposing factor in familial breast-ovarian cancer syndrome families. However, many screened patients are identified as harboring BRCA variants of uncertain significance (VUS), rather than carrying deleterious germline mutations [Calo et al.: Cancers 2010; 2:1644-1660]. While such VUSs are typically reclassified as benign polymorphisms, this may oc...

male breast cancer is a rare disease with an increasing trend. due to limited information especially about the genetic basis of the disease in iran and the lower age of its onset, the disease requires more attention. the aim of this study was to screen the male patients with breast cancer for brca mutations as well as tissue markers of estrogen receptor (er), progesterone receptor (pr), human e...

male breast cancer is a rare disease with an increasing trend. due to limited information especially about the genetic basis of the disease in iran and the lower age of its onset, the disease requires more attention. the aim of this study was to screen the male patients with breast cancer for brca mutations as well as tissue markers of estrogen receptor (er), progesterone receptor (pr), human e...