Results 121 to 130 of about 44,727 (269)

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Unsupervised hierarchical clustering of the 66 BRCA2 signature genes in the validation set.

, 2013
There are 19 BRCA2-mutant tumors and 12 BRCAX tumors. The lower left quadrant contains many genes on 13q and 14q that show reduced expression in BRCA2 tumors.
Françoise Bonnet (292500), Gaëtan MacGrogan (29233), Isabelle Coupier (292499), Audrey Rouault (292491), Nabila Elarouci (292496), Aurélien de Reyniès (17289), Natalie Jones (292495), Eric Letouzé (167040), Richard Iggo (292501), Nicolas Sévenet (292502), Emmanuelle Barouk-Simonet (292497), Laurence Venat (292498), Guillaume Banneau (292493), Michel Longy (29236)   +13 more
core   +1 more source

Plasmatic Profiling of Individuals With Combinations of Type 2 Diabetes Mellitus, Dyslipidemia and Periodontitis: A Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Aim The objective of this study was to investigate the global profile of plasmatic proteins of individuals affected simultaneously or not by type 2 diabetes mellitus (T2DM, well/poorly‐controlled), Dyslipidemia (DL), and Periodontitis (P). Methods Besides periodontal examination, plasma was collected for glycemic, and lipid analyses from 150 ...
François Isnaldo Dias Caldeira, Sâmia Cruz Tfaile Corbi, Alliny de Souza Bastos, Silvana Regina Perez Orrico, Cristiane Ribeiro Salmon, Yizhi Xiao, Walter Luiz Siqueira, Raquel Mantuaneli Scarel‐Caminaga   +7 more
wiley   +1 more source

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

BMC Cancer
Background Germline mutations in BRCA1 and BRCA2 genes are among the main causes of hereditary ovarian cancer. Identifying these mutations may reduce cancer risk, facilitate early detection, and enable personalized treatment.
Caroline de Oliveira Ferreira, Vandré Cabral Gomes Carneiro, Carolline Araujo Mariz   +2 more
doaj   +1 more source

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

Current Issues in Molecular Biology
The objective of this study was to identify and classify the spectrum of mutations found in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer in female patients in Romania.
Liliana-Georgiana Grigore, Viorica-Elena Radoi, Alexandra Serban, Adina Daniela Mihai, Ileana Stoica   +4 more
doaj   +1 more source

Population testing for cancer predisposing BRCA1/BRCA2 mutations

, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

Messenger RNA From Canine Cytology Lymph Node Specimens Can Be Utilised for Gene Expression Profiling Using Digital RNA Counting

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Gene expression profiling (GEP) is being used with increasing frequency to characterise canine tumours, but canine samples are often not collected in a medium to preserve RNA. Cytology samples from human tumours have been shown to provide adequate RNA for GEP using NanoString nCounter technology, suggesting a similar approach might be viable ...
McKenzie Olsen, Emily Rout, Kelly Hughes, Janna Yoshimoto, Anne Avery, R. Adam Harris   +5 more
wiley   +1 more source

Breast Cancer Gene (BRCA1, BRCA2)

Journal of Medicine and Life Science, 2003
Most women with breast cancer do not have a familial history of the disease in a first degree relative and hereditary breast cancer caused by a mutant gene passed from parents to their children is rare; only 5-10% of breast cancers are estimated to be attributable to the inheritance of rare highly penetrant, germline mutations of genes, although this ...
openaire   +1 more source

Preventing hereditary cancers caused by opportunistic carcinogens

, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +1 more source

An Update on Early‐Onset Breast Cancer: Incidence, Risk Factors, Genetic Testing, and Treatment

Computational and Systems Oncology, Volume 6, Issue 1, December 2026.
ABSTRACT Early‐onset breast cancer presents in patients typically under the age of 40, while very early‐onset breast cancer is usually viewed as breast cancer occurring before the age of 35. Early‐onset breast cancer demonstrates specific molecular properties and has worse outcomes compared to its late‐onset breast cancer counterpart.
Leila Jahangiri
wiley   +1 more source