BRCA1 GERMLINE MUTATION AND GLIOBLASTOMA DEVELOPMENT: REPORT OF CASES

tumour. Therefore, in these two cases, despite of a BRCA1 pathogenic germline mutation, the tumour- suppressor protein expression is maintained in GBM, suggesting that the BRCA1 mutation is not instrumental for GBM development. This observation is consiste[r]

Approximately 8–15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies focusing on the entire BRCA1/BRCA2 gene sequencing in Brazilian ovarian cancer patients[r]

Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the deve[r]

9q22.3-q31 and consists of 23 exons spanning approxi-mately 50 kb and encoding a 1447-amino acid transmem-brane glycoprotein. PTCH protein is involved in Sonichedgehog (Shh) signaling, where it is thought to act as areceptor for Shh ligands [2]. An important clue to theunderstan[r]

Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer[r]

Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). The patient reported here is only the eighth case of MNTI presenting in an extremity, and the first reported in the fibula.

Only 5–10 % of breast cancer cases is linked to germline mutations in the BRCA-1 gene and occurs early in life. Conversely, sporadic breast tumors, which represent 90-95 % of breast malignancies, have lower BRCA-1 expression, but not mutated BRCA-1 gene, and tend to occur later in life in combinatio[r]

appropriate physiologic signals. Senescent cells have been identified in patients whose premalignant lesions harbor activated oncogenes, for instance, dysplastic nevi that encode an activated form of BRAF (see below), demonstrating that induction of senescence is a protective mechanism[r]

It is unclear whether germline breast cancer susceptibility gene mutations affect breast cancer related outcomes. We wanted to evaluate mutation patterns in 20 breast cancer susceptibility genes and correlate the mutations with clinical characteristics to determine the effects of these germline muta[r]

In a large number of patients with multiple gastrointestinal adenomatous polyps, no causal germline mutation can be found. Non-genetic factors may contribute to the development of adenomatous polyps in these unexplained polyposis patients.

On the other hand and as an evidence of this transition process, regarding economic freedom, the country governed byAlan García is one of those that showed a substantial improvement. And it is worth noting that the closure of the indexby the Heritage Foundation was[r]

2004, 39:1380-1384.37. Crum-Cianflone N, Hullsiek KH, Marconi V, Weintrob A, Ganesan A,Barthel RV, Fraser S, Agan BK, Wegner S: Trends in the incidence ofcancers among HIV-infected persons and the impact of antiretroviraltherapy: a 20-year cohort study. AIDS 2009, 23:41-50.38. Engels E[r]

This report introduces 2 experiments on the TMS320C5515 eZDSPTM USB Stick Development Tool for performing a convolution of two vectors and generate a given signal. We calculated yn from given xn and hn for problem 1. The report also includes a hardwavebased programming and Matlabbased demonstration.

Intraocular iris rhabdomyosarcoma is extremely rare, and in the 3 cases reported to date occurred as the primary site of tumour growth. We report a case of rhabdomyosarcoma of the foot metastasizing to the iris.

Median overall survival (OS) of patients with melanoma brain metastases (MBM) is usually 6 months or less. There are rare reports of patients with treated MBM who survived for years. These outlier cases represent valuable opportunities to study the somatic and germline factors that may have influenc[r]

The poor prognosis for glioblastoma patients is caused by the diffuse infiltrative growth pattern of the tumor. Therefore, the molecular and cellular processes underlying cell migration continue to be a major focus of glioblastoma research.

The defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to establish the spectrum and frequency of germline variants in selected DNA repair genes and their impact on response to chemotherapy in medullob[r]

Laryngocarcinoma (LC), in most cases a squamous cell carcinoma, accounts for 1 ~ 5% of the incidence of all tumors. At present, laryngocarcinoma is mainly managed with the integration of surgery and radioand chemo-therapies. The current development trend of treatment is to improve the local control[r]

radiotherapy with a total dose of 5000 cGy. The signs and symptoms improved, though panhypopituitarism was noted 4 years after the second operation and radiotherapy. The patient received continuing treat-ment with eltroxin, cortisone acetate, and testos-terone cypionate,[r]

Scovazzi (eds.), International Law for Antarctica, 2nd edn (The Hague: Kluwer Law International,1996), pp. 377–94.7See Art. 4(4) of the Convention on the Territorial Sea and the Contiguous Zone (straight baselines)and Art. 12(2) of the Convention on the High Seas (search[r]