Results 71 to 80 of about 72,402 (211)

The Effects of BRCA1 and BRCA2 Promoter Methylation on Clinicopathological Characteristics and Clinical Outcomes in HGSOC

Cells
Ovarian cancer is a highly lethal disease. Tumors with a deficiency in the homologous recombination repair pathway (HRD) resulting from mutations in BRCA1/2 genes have a favorable response to platinum-based chemotherapy and targeted therapy with PARP ...
Katarina Živić, Ivana Boljević, Milica Nedeljković, Milana Matović, Radmila Janković, Miljana Tanić   +5 more
doaj   +1 more source

BRCA1 haploinsufficiency leads to altered expression of genes involved in cellular proliferation and development. [PDF]

PLoS ONE, 2014
The assessment of BRCA1 and BRCA2 coding sequences to identify pathogenic mutations associated with inherited breast/ovarian cancer syndrome has provided a method to identify high-risk individuals, allowing them to seek preventative treatments and ...
Harriet E Feilotter, Claire Michel, Paolo Uy, Lauren Bathurst, Scott Davey   +4 more
doaj   +1 more source

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

, 2007
Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical significance.
dos Santos Silva, Isabel, Gibson, Lorna, Webb, Emily, Gabrielle Sellick, Lorna Gibson, Houlston, Richard, Nichola Johnson, Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Claire Palles, Sean V. Tavtigian, Agnes Fraser, Rudd, Matthew, Ashworth, Alan, Isabel Dos Santos Silva, Palles, Claire, McCormack, Valerie, Tavtigian, Sean V, Leonard, Angela, Alan Ashworth, Valerie Mccormack, Gilham, Clare, Emily Webb, Richard Houlston, Sellick, Gabrielle, Olivia Fletcher, Matthew Rudd, Angela Leonard, Clare Gilham, Fraser, Agnes, Julian Peto   +31 more
core   +1 more source

Synergistic lethality between BRCA1 and H3K9me2 loss reflects satellite derepression. [PDF]

, 2019
has two histone H3 Lys9 methyltransferases, MET-2 (SETDB1 homolog) and SET-25 (G9a/SUV39H1 related). In worms, we found simple repeat sequences primarily marked by H3K9me2, while transposable elements and silent tissue-specific genes bear H3K9me3.
Gasser, Susan M, Towbin, Benjamin, Kalck, Veronique, Zeller, Peter, Methot, Stephen P, Katic, Iskra, Padeken, Jan   +6 more
core   +1 more source

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

Sultan Qaboos University Medical Journal, 2015
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic ...
Clare Brookes, Stella Lai, Elaine Doherty, Donald R. Love   +3 more
doaj  

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

PLoS ONE, 2013
Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide.
Dirce Maria Carraro, Maria Aparecida Azevedo Koike Folgueira, Bianca Cristina Garcia Lisboa, Eloisa Helena Ribeiro Olivieri, Ana Cristina Vitorino Krepischi, Alex Fiorini de Carvalho, Louise Danielle de Carvalho Mota, Renato David Puga, Maria do Socorro Maciel, Rodrigo Augusto Depieri Michelli, Eduardo Carneiro de Lyra, Stana Helena Giorgi Grosso, Fernando Augusto Soares, Fernando Augusto Soares, Maria Isabel Alves de Souza Waddington Achatz, Helena Brentani, Carlos Alberto Moreira-Filho, Maria Mitzi Brentani   +17 more
doaj   +1 more source

CLINICAL AND MORPHOLOGICAL FEATURES OF HEREDITARY OVARIAN CANCER

Сибирский онкологический журнал, 2017
Germ-line mutations in BRCA1 and BRCA2 genes are the most established risk factors for hereditary breast and ovarian cancers. The purpose of the study was to analyze BRCA1/2 testing in ovarian cancer patients. Materials and methods.
K. B. Kotiv, T. V. Gorodnova, A. O. Ivantsov, A. G. Iyevleva, S. N. Aleksakhina, G. M. Manichas, A. S. Lisyanskaya, R. P. Salomatov, M. S. Shushaniia, M. V. Borodenko, L. D. Roman, G. I. Mikhailiuk, O. N. Mikheeva, T. G. Grigorieva, I. V. Berlev, E. N. Imyanitov, A. P. Sokolenko   +16 more
doaj   +1 more source

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

Hereditary Cancer in Clinical Practice, 2022
Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland ...
Andrzej Jasiewicz, Helena Rudnicka, Wojciech Kluźniak, Wojciech Gronwald, Tomasz Kluz, Cezary Cybulski, Anna Jakubowska, Jan Lubiński, Jacek Gronwald   +8 more
doaj   +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

BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review

Journal of Research in Medical Sciences, 2015
Background: BRCA1/2 genes mutation prevalence varies among ethnic groups and may be influenced by founder mutations. Understanding BRCA1/2 genes mutations is important for reducing breast cancer (BC) incidence, accurate risk assessment and counseling ...
Hossein Neamatzadeh, Seyed Mostafa Shiryazdi, Seyed Mahdi Kalantar   +2 more
doaj