Results 91 to 100 of about 1,715,615 (239)

AI‐Based Analysis of Tumor‐Infiltrating Lymphocytes and Homologous Recombination in Ovarian Cancer: JGOG3025‐A1 Study

Cancer Science, EarlyView.
AI‐based spatial analysis of tumor‐infiltrating lymphocytes in ovarian cancer revealed the highest infiltration in high‐grade serous carcinoma. Integrating pathology‐based immune phenotypes with HRD status provided additional prognostic insight and highlighted distinct relationships between TILs and genomic structure.
Kohei Hamada, Junzo Hamanishi, Noriomi Matsumura, Akihiko Ueda, Shiro Takamatsu, Kosuke Yoshihara, Takayuki Nagasawa, Toshiyuki Seki, Akira Kikuchi, Etsuko Fujimoto, Mana Taki, Koji Yamanoi, Ryusuke Murakami, Hisaaki Kudo, Katsutoshi Oda, Muneaki Shimada, Aikou Okamoto, Masaki Mandai   +17 more
wiley   +1 more source

Low Frequency of 185delAG Founder Mutation of BRCA1 Gene in Iranian Breast Cancer Patients [PDF]

AIM: The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. In this study, we aimed to investigate the probable founder mutations of BRCA1 and BRCA2 genes in Iranian breast ...
حسینی اصل, سید سعید, حبیبی, لاله, الوندی, احسان, مهدی پور, پروین, صوابی, آرزو, عطری, مرتضی   +5 more
core  

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

Ionizing Radiation and Ultraviolet Light Irradiation‐Associated DNA Damage Increasing Genomic Instability Risk

Cancer Science, EarlyView.
UV irradiation induces two major types of pyrimidine dimers, CPDs and 6–4PPs. Whereas 6–4PPs efficiently induce cell‐cycle arrest, CPDs do not and frequently persist into S phase. As a result, DSBs can arise in the presence of unrepaired CPDs after 6–4PPs have been repaired, increasing the risk of genomic instability.
Ken‐ichi Yoshioka, Yusuke Matsuno, Rika Kusumoto‐Matsuo   +2 more
wiley   +1 more source

Cancer incidence in relatives of British Fanconi Anaemia patients. [PDF]

, 2008
BACKGROUND: Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with affected individuals having a high risk of developing acute myeloid leukaemia and certain solid tumours. Thirteen complementation groups have been identified and the genes
Ball Jan, Mathew, CG, Tischkowitz, Marc, Hodgson, SV, Hodgson Shirley V, Tischkowitz Marc, Easton, DF, Ball, J, Mathew Christopher G, Mathew, Christopher G.; id_orcid, Tischkowitz, M, Easton Douglas F, Ball, Jan, Hodgson, Shirley V., Easton, Douglas F.   +14 more
core   +3 more sources

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Sultan Qaboos University Medical Journal, 2015
Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow to amplify and screen all coding regions of the
Stella Lai, Clare Brookes, Debra O. Prosser, Chuan-Ching Lan, Elaine Doherty, Donald R. Love   +5 more
openaire   +4 more sources

Multiple drug resistance caused by germline mutation of exon 27 of BRCA2 gene in triple-negative breast cancer: a case report and literature review

Frontiers in Oncology
BRCA genes, including BRCA1 and BRCA2, are tumor suppressor genes that play a crucial role in the HRR pathway for double-strand DNA breaks. Mutations in these genes lead to the loss of function of their respective proteins, resulting in HRD and the ...
Yuting Li, Guojie Xu, Liling Zhang, Kewei Zhao, Yanxia Zhao, Dan Han   +5 more
doaj   +1 more source

BRCA2 deficiency instigates cGAS-mediated inflammatory signaling and confers sensitivity to tumor necrosis factor-alpha-mediated cytotoxicity

Nature Communications, 2019
The loss of homologous recombination (HR) genes such as BRCA1 and BRCA2 is deleterious to the survival of normal cells, yet it is tolerated in cancer cells.
Anne Margriet Heijink, Francien Talens, Lucas T. Jae, Stephanie E. van Gijn, Rudolf S. N. Fehrmann, Thijn R. Brummelkamp, Marcel A. T. M. van Vugt   +6 more
doaj   +1 more source

Dynamic Changes of ctDNA‐Based MRD and Genomic Mutations Predict Prognosis in ESCC Treated With Definitive Radiotherapy

Cancer Science, EarlyView.
In patients with esophageal squamous cell carcinoma receiving definitive radiotherapy combined with systemic therapy, posttreatment TP53 mutation clearance and ctDNA‐MRD negativity predict favorable outcomes, whereas persistent ctDNA signals indicate elevated relapse risk, supporting nucleosome‐ and MRD‐informed surveillance and risk‐stratification ...
Shutang Liu, Qi Wang, Chun Han, Xiaoning Li, Rutian Cheng, Lihong Liu, Hua Dong, Xuejiao Ren, Shuman Zhen, Lan Wang   +9 more
wiley   +1 more source

Unravelling the phylogeny of armadillos and their kin (Mammalia, Xenarthra, Cingulata) combining morphological, molecular, and stratigraphic data

Cladistics, EarlyView.
Abstract Cingulata, a major lineage of Xenarthra, comprises extinct and extant armoured placental mammals that diversified throughout the Cenozoic. Despite extensive study, phylogenetic hypotheses based on morphological and molecular data remain incongruent, and no total evidence analysis has been conducted. Here, we integrate the largest morphological
Daniel M. Casali, Mariela C. Castro, Martin R. Ciancio, Timothy J. Gaudin, Jeremy L. Bramblett, Alberto Boscaini, Fernando A. Perini, Max C. Langer   +7 more
wiley   +1 more source