Results 1 to 10 of about 1,715,615 (239)

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. [PDF]

PLoS Genetics, 2010
A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2.
Logan C Walker, Bryony A Thompson, Nic Waddell, kConFab Investigators, Sean M Grimmond, Amanda B Spurdle   +5 more
doaj   +1 more source

BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotypeResearch in context

EBioMedicine, 2023
Summary: Background: Genomic alterations in DNA damage response (DDR) genes are common in metastatic castration-resistant prostate cancer (mCRPC). Understanding how these genomic events impact prognosis and/or treatment response is vital for optimising ...
Heidi Fettke, Chao Dai, Edmond M. Kwan, Tiantian Zheng, Pan Du, Nicole Ng, Patricia Bukczynska, Maria Docanto, Louise Kostos, Siavash Foroughi, Stephen Brown, Lisa-Jane K. Graham, Kate Mahon, Lisa G. Horvath, Shidong Jia, Manish Kohli, Arun A. Azad   +16 more
doaj   +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

A new vulnerability to BET inhibition due to enhanced autophagy in BRCA2 deficient pancreatic cancer

Cell Death and Disease, 2023
Pancreatic cancer is one of the deadliest diseases in human malignancies. Among total pancreatic cancer patients, ~10% of patients are categorized as familial pancreatic cancer (FPC) patients, carrying germline mutations of the genes involved in DNA ...
EunJung Lee, Suyakarn Archasappawat, Keely Ji, Jocelyn Pena, Virneliz Fernandez-Vega, Ritika Gangaraju, Nitin Sai Beesabathuni, Martin Jean Kim, Qi Tian, Priya S. Shah, Louis Scampavia, Timothy P. Spicer, Chang-Il Hwang   +12 more
doaj   +1 more source

Expression of BRCA1 and BRCA2 Genes in Patients Undergoing Transrectal Prostate Biopsy

Revista Brasileira de Cancerologia
Introduction: Prostate cancer (PCa) is the second most common type of cancer among the male population. Men carrying mutations in the BRCA1 and BRCA2 genes are known to have a greater risk of developing PCa.
Eduardo Maciel Narvaes, Alyna Araújo e Marcondes, Roberto de Andrade Garcia Filho, Paulo Gabriel da Silva Mota, Patricia de Lima Lemos, Claudinéia de Araújo   +5 more
doaj   +1 more source

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

BMC Medical Genomics, 2020
Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern.
Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr   +16 more
doaj   +1 more source

UK-based clinical testing programme for somatic and germline BRCA1/2, ATM and CDK12 mutations in prostate cancer: first results

BMJ Oncology
Objective Germline BRCA2 pathogenic variants (PVs) are known to cause ~4% of prostate cancer, but other homologous repair genes, BRCA1, ATM, PALB2 and Lynch syndrome genes are also involved.
Helene Schlecht, Emma R Woodward, D Gareth Evans, Fiona Lalloo, George Burghel, Ashwin Sachdeva, Andrew Hudson, Robert Bristow, Omi Parikh   +8 more
doaj   +1 more source

Genetic contribution of breast cancer genes in women of black African origin

Frontiers in Genetics, 2023
Breast cancer (BC) is an increasing public health issue worldwide. BC incidence and mortality rates are rising in transitioning countries in Africa, with the most rapid increase occurring in Sub-Saharan Africa (SSA).
Rokhaya Ndiaye, Jean Pascal Demba Diop, Ahmadou Dem, Alioune Dieye   +3 more
doaj   +1 more source

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects

Frontiers in Oncology, 2020
Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi).
Ana Peixoto, Ana Peixoto, Pedro Pinto, Joana Guerra, Manuela Pinheiro, Catarina Santos, Catarina Santos, Carla Pinto, Carla Pinto, Rui Santos, Carla Escudeiro, Carla Bartosch, Carla Bartosch, Rita Canário, Rita Canário, Rita Canário, Rita Canário, Ana Barbosa, Alfredo Gouveia, Almerinda Petiz, Miguel Henriques Abreu, Susana Sousa, Deolinda Pereira, João Silva, João Silva, Manuel R. Teixeira, Manuel R. Teixeira, Manuel R. Teixeira   +27 more
doaj   +1 more source

The epistatic relationship between BRCA2 and the other RAD51 mediators in homologous recombination. [PDF]

PLoS Genetics, 2011
RAD51 recombinase polymerizes at the site of double-strand breaks (DSBs) where it performs DSB repair. The loss of RAD51 causes extensive chromosomal breaks, leading to apoptosis.
Yong Qing, Mitsuyoshi Yamazoe, Kouji Hirota, Donniphat Dejsuphong, Wataru Sakai, Kimiyo N Yamamoto, Douglas K Bishop, XiaoHua Wu, Shunichi Takeda   +8 more
doaj   +1 more source