Search results for " Variant"

Identification of Candidate Polymorphisms on Stress Oxidative and DNA Damage Repair Genes Related with Clinical Outcome in Breast Cancer Patients

2012

Diverse polymorphisms have been associated with the predisposition to develop cancer. On fewer occasions, they have been related to the evolution of the disease and to different responses to treatment. Previous studies of our group have associated polymorphisms on genes related to oxidative stress (rs3736729 on GCLC and rs207454 on XDH) and DNA damage repair (rs1052133 on OGG1) with a predisposition to develop breast cancer. In the present work, we have evaluated the hypothesis that these polymorphisms also play a role in a patient’s survival. A population-based cohort study of 470 women diagnosed with primary breast cancer and a median follow up of 52.44 months was conducted to e…

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

2002

A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.

Pancreatic undifferentiated carcinoma with osteoclast-like giant cells is genetically similar to, but clinically distinct from, conventional ductal a…

2017

Undifferentiated carcinoma of the pancreas with osteoclast-like giant cells (UCOGC) is currently considered a morphologically and clinically distinct variant of pancreatic ductal adenocarcinoma (PDAC). In this study, we report clinical and pathological features of a series of 22 UCOGCs, including the whole exome sequencing of eight UCOGCs. We observed that 60% of the UCOGCs contained a well-defined epithelial component and that patients with pure UCOGC had a significantly better prognosis than did those with an UCOGC with an associated epithelial neoplasm. The genetic alterations in UCOGC are strikingly similar to those known to drive conventional PDAC, including activating mutations in the…

ANATOMICAL VARIATIONS OF THE SPHENOID SINUS ASSESSED WITH MDCT

2009

Background The aim of this study was to assess the incidence of the anatomical variations of the sphenoid sinus in 293 patients studied by multidetector computed tomography (MDCT). Materials and Methods The MDCT (64 rows) studies of the paranasal sinuses of 293 patients, performed in 2006-2009, were reviewed to assess anatomical variations of the sphenoid sinus and related neurovascular structures. Anatomical variations were evaluated on 1 mm thick MPR reformations, displayed on a high resolution workstation screen. Pneumatization of the anterior clinoid process (ACP), pterygoid recess (PR), protrusion of the internal carotid artery (ICA), optic nerve (ON), maxillary and vidian nerve into t…

Reply to “Primary cutaneous biphasic sarcomatoid basal cell carcinoma with myoepithelial carcinoma differentiation. Is it a new variant of sarcomatoi…

2020

Testa ar dotiem atbilžu variantiem izstrāde un pielietojums informātikas mācību stundās

2019

Diplomdarba tēma ir “Testa ar dotiem atbilžu variantiem izstrāde un pielietojums informātikas mācību stundās”. Darbā apkopota testa ar dotiem atbilžu variantiem izstrādes metodoloģija, raksturīgākās izstrādes kļūdas un aprakstīti soļi, ar kuru palīdzību veikt padziļinātu testa un testa jautājumu analīzi. Darba rezultātā apkopotas vadlīnijas no kurām izvairīties testa ar dotiem atbilžu variantiem izstrādātājiem. Diplomdarba pētnieciskais jautājums: kā izstrādāt zināšanu novērtēšanas testu ar dotiem atbilžu variantiem informātikā un novērtēt tā kvalitāti? Diplomdarba mērķis ir apkopot testa ar dotiem atbilžu variantiem izstrādes pamatlikumus, izstrādāt testu, novērtēt tā kvalitāti un izveidot…

Bovine spongiform encephalopathy and Creutzfeldt-Jakob disease: facts and uncertainties underlying the causal link between animal and human diseases

2004

Following an outbreak of bovine spongiform encephalopathy (BSE) in dairy cows in the United Kingdom (UK), 153 definite and probable human cases of new variant Creutzfeldt-Jakob disease (nvCJD) have been reported, almost exclusively in the UK. Although exposure to the BSE agent is the most plausible interpretation for the occurrence of nvCJD, the causal link between the BSE prion and nvCJD is still debated. This review discusses the pros and cons of nvCJD as a separate nosographic entity, the scientific basis for a correlation between BSE and nvCJD, the validity of the current diagnostic criteria for CJD and nvCJD, the contribution of epidemiology to the detection of a causal relation betwee…

Predicting Neutrinoless Double Beta Decay

2005

We give predictions for the neutrinoless double beta decay rate in a simple variant of the A_4 family symmetry model. We show that there is a lower bound for the neutrinoless double beta decay amplitude even in the case of normal hierarchical neutrino masses, corresponding to an effective mass parameter |m_{ee}| >= 0.17 \sqrt{\Delta m^2_{ATM}}. This result holds both for the CP conserving and CP violating cases. In the latter case we show explicitly that the lower bound on |m_{ee}| is sensitive to the value of the Majorana phase. We conclude therefore that in our scheme, neutrinoless double beta decay may be accessible to the next generation of high sensitivity experiments.

A flavour physics scenario for the 750 GeV diphoton anomaly

2016

A simple variant of a realistic flavor symmetry scheme for fermion masses and mixings provides a possible interpretation of the diphoton anomaly as an electroweak singlet ``flavon.'' The existence of TeV scale vectorlike T-quarks required to provide adequate values for Cabibbo-Kobayashi-Maskawa (CKM) parameters can also naturally account for the diphoton anomaly. Correlations between ${V}_{ub}$ and ${V}_{cb}$ with the vectorlike T-quark mass can be predicted. Should the diphoton anomaly survive in a future run, our proposed interpretation can also be tested in upcoming B and LHC studies.