Results 21 to 30 of about 72,678 (220)

Absence of rearrangements in the BRCA2 gene in human cancers [PDF]

British Journal of Cancer, 2001
Mutations of BRCA2 in sporadic breast and ovarian carcinomas are exceedingly rare. This led to the suggestion that large genomic rearrangements could be involved. We performed Southern blots in genomic DNA from 130 primary breast cancers and 83 cancer cell lines (breast, ovarian, pancreatic and small cell lung carcinomas) and found no genomic ...
Chin, S-F, Wang, Q, Puisieux, A, Caldas, C   +3 more
openaire   +2 more sources

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay [PDF]

, 2017
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers).
Baert, Annelot, Claes, Kathleen, De Leeneer, Kim, De Nobele, Sylvia, Depuydt, Julie, Malfait, Fransiska, Perletti, Gianpaolo, Poppe, Bruce, Van Damme, Tim, Van Maerken, Tom, Vral, Anne   +10 more
core   +1 more source

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

Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients [PDF]

Balkan Journal of Medical Genetics, 2012
ABSTRACT The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance ...
Plaseska-Karanfilska Dijana, Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, Arsovski A   +7 more
openaire   +3 more sources

PARP-1 regulates DNA repair factor availability. [PDF]

, 2018
PARP-1 holds major functions on chromatin, DNA damage repair and transcriptional regulation, both of which are relevant in the context of cancer. Here, unbiased transcriptional profiling revealed the downstream transcriptional profile of PARP-1 enzymatic
Birbe, Ruth, Brand, Lucas J, Cendon-Florez, Ylenia, Chand, Saswati N., de Leeuw, Renée, Dicker, Adam, MD, PhD, Dylgjeri, Emanuela, Evans, Joseph, Feng, Felix Y, Gallagher, Peter, Gaur, Sanchaika, Gomella, Leonard G, Gordon, Nicolas, Han, Sumin, Huang, Fangjin, Kelly, William Kevin, Knudsen, Beatrice, Knudsen, Karen E, Lallas, Costas D, Leiby, Benjamin E, Mandigo, Amy C., McCann, Jennifer J, McCue, Peter, McNair, Christopher, Parsons, Theodore, Poudel Neupane, Neermala, Raj, Ganesh V, Schiewer, M J, Shafi, Ayesha A, Trabulsi, Edouard J, Visakorpi, Tapio, Zhao, Shuang G   +31 more
core   +2 more sources

Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX [PDF]

, 2018
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with lack of predictive biomarkers. We conducted a study to assess DNA damage repair (DDR) gene mutations as a predictive biomarker in PDAC patients treated with FOLFIRINOX ...
Gbolahan, Olumide, Hancock, Brad A., O'Neil, Bert H., Radovich, Milan, Sehdev, Amikar, Shahda, Safi, Stanley, Melissa, Wan, Jun, Wu, Howard H.   +8 more
core   +1 more source

PARP inhibition and pharmacological ascorbate demonstrate synergy in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Pharmacologic ascorbate (vitamin C) increases ROS, disrupts cellular metabolism, and induces DNA damage in CRPC cells. These effects sensitize tumors to PARP inhibition, producing synergistic growth suppression with olaparib in vitro and significantly delayed tumor progression in vivo. Pyruvate rescue confirms ROS‐dependent activity.
Nicolas Gordon, Peter T. Gallagher, Orly I. Richter, Neermala Poudel Neupane, Amy C. Mandigo, Jennifer J. McCann, Emanuela Dylgjeri, Irina Vasilevskaya, Christopher McNair, Channing J. Paller, Wm. Kevin Kelly, Karen E. Knudsen, Matthew J. Schiewer, Ayesha A. Shafi   +13 more
wiley   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Defective DNA repair mechanisms in prostate cancer: impact of olaparib [PDF]

, 2017
The field of prostate oncology has continued to change dramatically. It has truly become a field that is intensely linked to molecular genetic alterations, especially DNA-repair defects.
De Felice, Francesca, Marampon, Francesco, Marchetti, Claudia, Musella, Angela, Tombolini, Vincenzo   +4 more
core   +2 more sources