Results 101 to 110 of about 44,419 (235)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

A fragmented alignment method detects a phosphorylation site and a new BRC repeat in the Drosophila melanogaster BRCA2 protein, and a new HAT repeat in Utp6 from yeast [v1; ref status: indexed, http://f1000r.es/1aq]

F1000Research, 2013
Mutations in the BRCA2 tumor suppressor protein leave individuals susceptible to breast, ovarian and other cancers. The BRCA2 protein is a critical component of the DNA repair pathways in eukaryotes, and also plays an integral role in fostering genomic ...
Sandeep Chakraborty
doaj   +1 more source

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

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

BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice.

PLoS Genetics, 2010
BRIT1 protein (also known as MCPH1) contains 3 BRCT domains which are conserved in BRCA1, BRCA2, and other important molecules involved in DNA damage signaling, DNA repair, and tumor suppression.
Yulong Liang, Hong Gao, Shiaw-Yih Lin, Guang Peng, Xingxu Huang, Pumin Zhang, John A Goss, Francis C Brunicardi, Asha S Multani, Sandy Chang, Kaiyi Li   +10 more
doaj   +1 more source

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

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

Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan

Neoplasia: An International Journal for Oncology Research
Gene mutations are a source of genetic instability which fuels the progression of cancer. Mutations in BRCA1 and BRCA2 are considered as major drivers in the progression of breast cancer and their detection indispensable for devising therapeutic and ...
Hilal Ahmad, Asif Ali, Roshan Ali, Ali Talha Khalil, Ishaq Khan, Mah Muneer Khan, Mohammed Alorini   +6 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  

Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA [PDF]

, 2010
BRCA2 is a tumor suppressor that interacts with RAD51 and functions in homologous recombination, but understanding its precise functions has been hampered by difficulties in purifying such a large protein. Now purified full-length human BRCA2 is shown to
Wolf-Dietrich Heyer, Liu, Jie, Gibson, Bryan, Bryan Gibson, Heyer, Wolf-Dietrich, Jie Liu, Tammy Doty, Doty, Tammy   +7 more
core   +1 more source