Results 71 to 80 of about 67,862 (241)

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]

, 2017
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou, Antoniou, Belardinilli, Bernstein, Broeks, Brown, Buffone, Capalbo, Capalbo, Castera, Chen, Coppa, Couch, Cybulski, Daly, Desmond, Easton, Economopoulou, Foulkes, Gad, Giannini, Giannini, Goldgar, Kurian, LaDuca, Li, Lincoln, Lindor, Neitzel, Nicolussi, Os, Plon, Prodosmo, Rebbeck, Renwick, Sandoval, Steffensen, Stratton, Telatar, Thompson, Thompson, Tung, Walsh, Walsh, Weischer, Williams   +45 more
core   +1 more source

Inhibition of SIRT7 Overcomes Radioresistance in Pancreatic Neuroendocrine Tumors by Reactivating MEN1 Expression

Advanced Science, EarlyView.
Pancreatic neuroendocrine tumors frequently silence MEN1 through epigenetic mechanisms. Here, SIRT7 recruits DNMT1 to the MEN1 promoter, drives hypermethylation, and enhances DNA repair. Inhibiting SIRT7 restores MEN1, reduces MRN complex abundance, impairs double‐strand break repair, and sensitizes PanNET models to radiation, supporting SIRT7 as a ...
Jianyun Jiang, Yan Wang, Yi Qin, Luohai Chen, Xiaowu Xu, Guixiong Fan, Desheng Jing, Miaoyan Wei, Xianjun Yu, Junfeng Xu, Shunrong Ji, Jie Chen   +11 more
wiley   +1 more source

Does tumorigenesis select

for

or

against

mutations of the DNA repair-associated genes BRCA2 and MRE11?: Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers

BMC Genetics, 2006
Background The BRCA2 and MRE11 proteins participate in the repair of double-strand DNA breaks by homologous recombination. Germline BRCA2 mutations predispose to ovarian, breast and pancreatic cancer, while a germline MRE11 mutation is associated with an
Elghalbzouri-Maghrani Elhaam, Brody Jonathan R, van der Heijden Michiel S, Zdzienicka Malgorzata Z, Kern Scott E   +4 more
doaj   +1 more source

RT-PCR Analysis of TOPBP1 Gene Expression in Hereditary Breast Cancer [PDF]

, 2010
Hereditary predisposition to breast cancer determined in large part by loss of function mutations in one of two genes BRCA1 and BRCA2. Besides BRCA1 and BRCA2 other genes are also likely to be involved in hereditary predisposition to breast cancer ...
Bernaciak, Magdalena, Bryś, Magdalena, Forma, Ewa, Romanowicz-Makowska, Hanna   +3 more
core   +2 more sources

p53 Mediates Repression of the BRCA2 Promoter and Down-regulation of BRCA2 mRNA and Protein Levels in Response to DNA Damage [PDF]

Journal of Biological Chemistry, 2003
Adriamycin and other DNA-damaging agents have been shown to reduce BRCA2 mRNA levels in breast cancer cell lines, but the mechanism by which this occurs is unknown. In this study, we show that adriamycin and mitomycin C, but not other DNA-damaging agents, repress BRCA2 promoter activity in a dose- and time-dependent manner.
Kangjian, Wu, Shi-Wen, Jiang, Fergus J, Couch   +2 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

Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells

Life Science Alliance
This study provides proof of principle for the therapeutic potential of splicing modulation as a strategy to rescue BRCA2 function in mutant cells. Variants in the hereditary cancer-associated BRCA1 and BRCA2 genes can alter RNA splicing, producing ...
Beatriz Anjo Lima, Ana Carolina Pais, Juliette Dupont, Patrícia Dias, Noélia Custódio, Ana Berta Sousa, Maria Carmo-Fonseca, Célia Carvalho   +7 more
doaj   +1 more source

Drosophila brca2 is required for mitotic and meiotic DNA repair and efficient activation of the meiotic recombination checkpoint.

PLoS Genetics, 2008
Heterozygous mutations in the tumor suppressor BRCA2 confer a high risk of breast and other cancers in humans. BRCA2 maintains genome stability in part through the regulation of Rad51-dependent homologous recombination. Much about its precise function in
Martha Klovstad, Uri Abdu, Trudi Schüpbach   +2 more
doaj   +1 more source

DNA repair deficiency biomarkers and the 70-gene ultra-high risk signature as predictors of veliparib/carboplatin response in the I-SPY 2 breast cancer trial. [PDF]

, 2017
Veliparib combined with carboplatin (VC) was an experimental regimen evaluated in the biomarker-rich neoadjuvant I-SPY 2 trial for breast cancer. VC showed improved efficacy in the triple negative signature.
Berry, Don, Brown-Swigart, Lamorna, Buxton, Meredith, DeMichele, Angela, Esserman, Laura, Glas, Annuska, Hirst, Gillian, Hylton, Nola, Linn, Sabine, Olopade, Olufunmilayo, Paoloni, Melissa, Petricoin, Emanuel, Rugo, Hope, Sanil, Ashish, Severson, Tesa M, Symmans, Fraser, van 't Veer, Laura, Wolf, Denise M, Wulfkuhle, Julia, Yau, Christina, Yee, Doug   +20 more
core   +2 more sources

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