Results 11 to 20 of about 113,876 (211)

BRCA1 regulates p53-dependent gene expression [PDF]

Proceedings of the National Academy of Sciences, 1998
Mutations in BRCA1 are present in 45% of families that segregate with susceptibility for breast cancer and in 80–90% of families with both breast and ovarian cancer. Here we report that BRCA1 stimulates artificial and genomic promoter constructs containing p53-responsive elements.
T, Ouchi, A N, Monteiro, A, August, S A, Aaronson, H, Hanafusa   +4 more
openaire   +2 more sources

Complex Regulation of the BRCA1 Gene [PDF]

Journal of Biological Chemistry, 1997
We have analyzed the promoter region of the human BRCA1 gene in detail and demonstrate that the expression of the BRCA1 gene is under complex regulation. First, its transcription is under the control of two promoters generating two distinct transcripts alpha and beta, and second, promoter alpha is shared with the adjacent NBR2 gene and is bi ...
C F, Xu, J A, Chambers, E, Solomon
openaire   +2 more sources

The Relationship of Mutation Carriage of BRCA1/2 and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey

European Journal of Breast Health, 2021
Objective:BRCA1/2 genes play a role in the etiopathogenesis of 10%–30% of triple-negative breast cancer (TNBC). This study aims to investigate the BRCA1/2 genes and the demographic and clinicopathological features in patients with TNBC.
Neslihan Duzkale, Olcay Kandemir
doaj   +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

Secondary somatic mutations restoring RAD51C and RAD51D associated with acquired resistance to the PARP inhibitor rucaparib in high-grade ovarian carcinoma [PDF]

, 2017
High-grade epithelial ovarian carcinomas (OC) containing mutated BRCA1 or BRCA2 (BRCA1/2) homologous recombination (HR) genes are sensitive to platinum-based chemotherapy and poly(ADP-ribose) polymerase inhibitors (PARPi), while restoration of HR ...
Barker, Holly, Bernstein, Kara A., Botwell, David D.L., Brunette, Gregory J., Coleman, Robert L., Floquet, Anna, Friedlander, Michael, Giordano, Heidi, Harding, Thomas C., Harrell, Maria I., Ho, Gwo-Yaw, Jasin, Maria, Kass, Elizabeth M., Kaufmann, Scott H., Kichenadasse, Ganessan, Kondrashova, Olga, Kuiper, Michael J., Lin, Kevin K., Maloney, Lara, McNeish, Iain A., Nguyen, Minh, O'Malley, David M., Oza, Amit M., Prakash, Rohit, Raponi, Mitch, Robillard, Liliane, Scott, Clare L., Shield-Artin, Kirsty, Simmons, Andrew D., Sullivan, Meghan R., Sun, James X., Swisher, Elizabeth M., Teng, Nelson N.H., Tinker, Anna V., Wakefield, Matthew J.   +34 more
core   +1 more source

BRCA1 and BRCA2 genes mutations among women with clinical signs of hereditary breast cancer in western Belarus

Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021
Background: Breast cancer is the most common malignancy in women. In the countries of Central and Eastern Europe founder mutations in the BRCA1 and BRCA2 genes are responsible for a significant proportion of breast cancer cases; however, regional ...
Alena Savanevich, Maryia Vasilkevich, Vitalii Abdrashitov, Tatiana Stepuro   +3 more
doaj   +1 more source

Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis. [PDF]

, 2017
Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress.
Angel Pujana, Miguel, Brunet, Joan, Chaldekas, Krysta, Chedin, Frederic, Chiang, Huai-Chin, Curiel, Tyler J, Elledge, Richard, Hu, Yanfen, Isaacs, Claudine, Jatoi, Ismail, Jin, Victor X, Lautner, Meeghan, Li, Rong, Mateo, Francesca, Michalek, Joel, Nair, Sreejith J, Ochoa, Oscar, Oliver, Boyce, Peshkin, Beth N, Petit, Anna, Poggi, Elizabeth, Smith, Sabrina, Soler, Teresa, Sun, Lu-Zhe, Theoharis, Constantine, Wang, Howard, Wang, Yao, Zhang, Chi, Zhang, Xiaowen, Zhao, Xiayan   +29 more
core   +2 more sources

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients

Frontiers in Oncology, 2022
IntroductionBRCA1 and BRCA2 germline pathogenic variants (GPVs) account for most of the 5-10% of breast cancer (BC) that is attributable to inherited genetic variants.
Daniele Paixão, Giovana Tardin Torrezan, Giovana Tardin Torrezan, Karina Miranda Santiago, Maria Nirvana Formiga, Samuel Terkper Ahuno, Emmanuel Dias-Neto, Emmanuel Dias-Neto, Israel Tojal da Silva, Israel Tojal da Silva, William D. Foulkes, Paz Polak, Dirce Maria Carraro, Dirce Maria Carraro   +13 more
doaj   +1 more source

Rapid Evolution of BRCA1 and BRCA2 in Humans and Other Primates [PDF]

, 2014
The maintenance of chromosomal integrity is an essential task of every living organism and cellular repair mechanisms exist to guard against insults to DNA.
Demogines, Ann M., Le, Uyen Q., Lou, Dianne I., McBee, Ross M., Sawyer, Sara L., Stone, Anne C., Wilkerson, Gregory K.   +6 more
core   +3 more sources

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Biological Research, 2017
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes.
Lilian Jara, Sebastian Morales, Tomas de Mayo, Patricio Gonzalez-Hormazabal, Valentina Carrasco, Raul Godoy   +5 more
doaj   +1 more source