Results 31 to 40 of about 115,309 (309)

Homologous Recombination Abnormalities Associated With Mutations as Predicted by Machine Learning of Targeted Next-Generation Sequencing Data

Breast Cancer: Basic and Clinical Research, 2023
Background: Homologous recombination deficiency (HRD) is the hallmark of breast cancer gene 1/2 ( BRCA1/2 )-mutated tumors and the unique biomarker for predicting response to double-strand break (DSB)–inducing drugs.
Maher Albitar, Hong Zhang, Andrew Pecora, Stanley Waintraub, Deena Graham, Mira Hellmann, Donna McNamara, Ahmad Charifa, Ivan De Dios, Wanlong Ma, Andre Goy   +10 more
doaj   +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

BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ

Open Biology, 2021
RNA polymerase II (Pol II)-dependent transcription in stimulus-inducible genes requires topoisomerase IIβ (TOP2B)-mediated DNA strand break and the activation of DNA damage response signalling in humans.
Heeyoun Bunch, Jaehyeon Jeong, Keunsoo Kang, Doo Sin Jo, Anh T. Q. Cong, Deukyeong Kim, Donguk Kim, Dong-Hyung Cho, You Mie Lee, Benjamin P. C. Chen, Matthew J. Schellenberg, Stuart K. Calderwood   +11 more
doaj   +1 more source

Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer [PDF]

Journal of Liaquat National Hospital
Breast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant due to small allelic variations.
Saba Munir, Yasir Nawaz, Fouzia Tanvir, Maria Akram, Muhammad Luqman, Javaria Zafar, Muhammad Zaman   +6 more
doaj   +1 more source

Founder mutations in BRCA1 and BRCA2 genes

Annals of Oncology, 2007
BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations.
FERLA, Rita, CALO', Valentina, CASCIO, Sandra, RINALDI, G, BADALAMENTI, Giuseppe, CARRECA, Ignazio, SURMACZ, E, COLUCCI, G, BAZAN, Viviana, RUSSO, Antonio   +9 more
openaire   +3 more sources

The usefulness of antibodies to the BRCA1 protein in detecting the mutated BRCA1 gene. An immunohistochemical study [PDF]

Journal of Clinical Pathology, 2001
Aim —To assess the value of immunohistochemistry in discriminating between BRCA1 associated and non-BRCA1 associated breast tumours. Methods —Four commercially available anti-BRCA1 antibodies were used on 45 paraffin wax embedded ...
Pérez Vallés, Ana, Martorell Cebolla, Miguel, Nogueira Vázquez, E., García García, José Ángel, Fuster Diana, E.   +4 more
openaire   +3 more sources

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry

Scientific Reports, 2022
Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified.
Dewald Eygelaar, Elizabeth J. van Rensburg, Fourie Joubert   +2 more
doaj   +1 more source

Hypermethylation of BRCA1 Gene in Meningioma in Elderly Males [PDF]

Anticancer Research, 2018
Breast cancer 1, early onset (BRCA1) gene is expressed in the cells of the breast and other tissues, where it plays a role in cell-cycle regulation, transcription, repair of DNA double-stranded breaks, ubiquitination, transcriptional regulation as well as other functions, such as cell response regulation to mitogenic signals triggered by estrogens ...
Lombardi, Ismael Augusto Silva, Faria, Mário Henrique Girão, Rabenhorst, Silvia Helena Barem, Zanini, Marco Antônio, De Moura Campos Pardini, Maria Inês, Grotto, Rejane Maria Tommasini, Ferrasi, Adriana Camargo   +6 more
openaire   +3 more sources

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer [PDF]

Iranian Journal of Public Health, 2011
Background: BRCA1 and BRCA2 genes have been recognized to be responsible for 20-30% of hereditary breast can­cers and approximately 50% of familial breast and ovarian cancers.
F Keshavarzi, A Eskafi Noughani, MH Ayoubian, S Zeinali   +3 more
doaj   +1 more source