Results 41 to 50 of about 54,591 (139)

New challenges for BRCA testing:a view from the diagnostic laboratory [PDF]

, 2016
Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example ...
A Grada, A Peixoto, A Pietschmann, AB Spurdle, AM Moisan, Andrew J Wallace, AS Nord, B Gorski, BA Thompson, BT Hennessy, C Szabo, CL Scherr, CS Richards, DG Evans, E Rouleau, ER Mardis, F Casilli, FB Hogervorst, G Ellison, G Ruiz de Garibay, H Do, H Do, H Ozcelik, H Rudnicka, J Balmana, J Balmana, J Kluger, J Ledermann, J Li, J Tarabeux, JE Morgan, JM Lee, JM Rothberg, JP Struewing, JY Cheon, K De Leeneer, K Ready, L Castéra, L Fachal, L Feliubadalo, L Mamanova, M Chan, M Kerick, M Montagna, M Szwiec, MJ Bermejo-Perez, ML Metzker, MP Vallee, MR Schweiger, N Mavaddat, N Petrucelli, NA Sharifah, NCCN Clinical Practice Guidelines, NJ Loman, NM Lindor, P Kang, P Medvedev, P Tonin, PJ Campbell, PL Welcsh, S Chen, SE Plon, SF Idris, SK Sandhu, SQ Wong, T Walsh, The BRCA1 Exon 13 Duplication Screening Group, TM Smith, TS Frank, YK Lim   +69 more
core   +2 more sources

BRCA somatic mutations and epigenetic BRCA modifications in serous ovarian cancer

Annals of Oncology, 2016
The significant activity of poly(ADP-ribose)polymerase (PARP) inhibitors in the treatment of germline BRCA mutation-associated ovarian cancer, which represents ∼15% of HGS cases, has recently led to European Medicines Agency and food and drug administration approval of olaparib.
M, Moschetta, A, George, S B, Kaye, S, Banerjee   +3 more
openaire   +2 more sources

The suppression of DNA repair induced by PARP-1 inhibitors rucaparib and olaparib in combination with the radiopharmaceutical 131I-MIBG in noradrenaline transporter-expressing xenograft tumors [PDF]

, 2018
No abstract ...
Gaze, Mark N., Mairs, Robert J., Nile, Donna L., Nixon, Colin, Rae, Colin   +4 more
core   +1 more source

The next steps in improving the outcomes of advanced ovarian cancer [PDF]

, 2015
Worldwide ovarian cancer affects over 200,000 women per year. Overall survival rates are poor due to two predominate reasons. First, the majority of patients present with advanced disease creating significant difficulty with effecting disease eradication.
Blagden, S, Fotopoulou, C, Gabra, H, Openshaw, MR   +3 more
core   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers

Oncotarget, 2018
Male breast cancer (MBC) is a rare disease. Due to its rarity, MBC research and clinical approach are mostly based upon data derived from female breast cancer (FBC). Increasing evidence indicate that on molecular level MBC may be an heterogeneous disease different from FBC.
Rizzolo, Piera, Silvestri, Valentina, Valentini, Virginia, Zelli, Veronica, Zanna, Ines, Masala, Giovanna, Bianchi, Simonetta, Palli, Domenico, Ottini, Laura   +8 more
openaire   +6 more sources

Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method. [PDF]

, 2018
Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to cancer
Kim, Byung-Ju, Kim, Sung-Hou
core   +2 more sources

Management of the asymptomatic BRCA mutation carrier

The Application of Clinical Genetics, 2010
Current management of an asymptomatic BRCA mutation carrier includes early initiation and intensive cancer screening in combination with risk reduction strategies. The primary objectives of these interventions are earlier detection and cancer prevention to increase quality of life and prolonged survival.
Teller, Paige, Kramer,Rita
openaire   +5 more sources

How Can We Move Clinical Genomics Beyond the Hype? [PDF]

, 2011
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core  

Mapping genetic interactions in cancer: a road to rational combination therapies. [PDF]

, 2019
The discovery of synthetic lethal interactions between poly (ADP-ribose) polymerase (PARP) inhibitors and BRCA genes, which are involved in homologous recombination, led to the approval of PARP inhibition as a monotherapy for patients with BRCA1/2 ...
Krogan, Nevan J, Tutuncuoglu, Beril
core