Results 61 to 70 of about 44,727 (269)

BRCA2 gene mutations and coagulation-associated biomarkers

Thrombosis and Haemostasis, 2016
SummaryThromboembolic events are the second cause of death in cancer patients, although the mechanisms underlying this increased thromboembolic risk remain unclear. The aims of this study were to examine whether BRCA2 gene mutations may modify the circulating levels of thrombocoagulation biomarkers and whether breast cancer development may influence ...
Pedro, Perez-Segura, José J, Zamorano-León, Daniel, Acosta, Juana María, Santos-Sancho, Javier, Modrego, Trinidad, Caldés, Miguel, de la Hoya, Eduardo, Díaz-Rubio, Isabel, Díaz-Millán, Natalia, de Las Heras, Luis Alfonso, Rico Zalba, Vicente, Lahera, Olle, Melander, Antonio, López Farré   +13 more
openaire   +4 more sources

The Challenge of Handling Structured Missingness in Integrated Data Sources

Advanced Intelligent Discovery, EarlyView.
As data integration becomes ever more prevalent, a new research question that emerges is how to handle missing values that will inevitably arise in these large‐scale integrated databases? This missingness can be described as structured missingness, encompassing scenarios involving multivariate missingness mechanisms and deterministic, nonrandom ...
James Jackson, Marius Hofert, Eleni‐Rosalina Andrinopoulou, Niels Hagenbuch, Sarah McGough, Chris Harbron, Robin Mitra   +6 more
wiley   +1 more source

Breast Cancer Susceptibility Genes: BRCA1 and BRCA2

Medicine, 1998
Mutations in the BRCA1 and BRCA2 genes lead to an increased susceptibility to breast, ovarian, and other cancers. It is estimated that 3%-8% of all women with breast cancer will be found to carry a mutation in 1 of these genes. Families with multiple affected first-degree relatives and patients with early-onset disease have been found to harbor ...
L C, Brody, B B, Biesecker
openaire   +2 more sources

Cancer variation associated with the position of the mutation in the BRCA2 gene [PDF]

Familial Cancer, 2004
Inherited mutations of the BRCA2 gene give rise to a multi-site cancer phenotype which includes breast cancer (in female and males), ovarian, pancreatic and prostate cancer, ocular and other melanomas, laryngeal, colon and stomach cancers. Interpretation of test results and risk assessment is therefore complex.
Lubinski, J., Phelan, C. M., Ghadirian, P., Lynch, H. T., Garber, J., Weber, B., Tung, N., Horsman, D., Isaacs, C., Monteiro, A. N., Sun, P., Narod, S. A.   +11 more
openaire   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

The impact of known breast cancer polygenes on critical illness insurance

, 2015
Genetic studies indicate that the inherited risk of breast cancer is mediated by the well-studied major genes BRCA1 and BRCA2, and a polygenic component, probably with many genes each making a small contribution. Recently, seven polygenes have been found
Macdonald, Angus Smith; id_orcid, Adams, Craig, Donnelly, Catherine   +2 more
core   +1 more source

Next‐Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices

Exploration, EarlyView.
This graphic abstract depicts the convergence of artificial intelligence, genetic technologies, bioengineering, and rehabilitation as the core pillars of next‐generation surgery. These domains collectively enhance preoperative planning, intraoperative precision, tissue reconstruction, and postoperative recovery, driving a paradigm shift toward ...
Dengxiong Li, Jie Wang, Zhipeng Wang, Ruicheng Wu, Zhouting Tuo, Fanglin Shao, Wenjing Ge, Ziyu Shu, Yubo Yang, Dilinaer Wusiman, Qingxin Yu, Luxia Ye, Alisha Pati‐Alam, Facai Zhang, Koo Han Yoo, Susan Heavey, William C. Cho, Dechao Feng   +17 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The epistatic relationship between BRCA2 and the other RAD51 mediators in homologous recombination. [PDF]

PLoS Genetics, 2011
RAD51 recombinase polymerizes at the site of double-strand breaks (DSBs) where it performs DSB repair. The loss of RAD51 causes extensive chromosomal breaks, leading to apoptosis.
Yong Qing, Mitsuyoshi Yamazoe, Kouji Hirota, Donniphat Dejsuphong, Wataru Sakai, Kimiyo N Yamamoto, Douglas K Bishop, XiaoHua Wu, Shunichi Takeda   +8 more
doaj   +1 more source

Breast cancer genes: beyond BRCA1 and BRCA2

Frontiers in Bioscience, 2013
Breast cancer (BC) is a heterogeneous disease. The majority of breast cancer cases (about 70 percent) are considered sporadic. Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number of high-, moderate-, and low-penetrance susceptibility genes.
Sandra E, Filippini, Ana, Vega
openaire   +3 more sources