Results 71 to 80 of about 42,200 (256)
Scientific Reports, 2021 Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS.
Mariann Unhjem Wiik +13 more
doaj +1 more source
Attitudes Toward Updated Genetic Testing Among Patients with Unexplained Mismatch Repair Deficiency [PDF]
, 2018 Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair
Omark, Jessica
core +1 more source
Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma
Head &Neck, EarlyView.ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue +12 more
wiley +1 more source
Pancreatic cancer ‘mismatch’ in Lynch syndrome
BMJ Open Gastroenterology, 2019 ObjectiveImmune therapy with the PD1 inhibitor pembrolizumab has been approved to treat unresectable/metastatic solid tumours exhibiting mismatch repair (MMR) deficiency. Lynch syndrome (LS), caused by autosomal dominant germline mutations of a MMR gene,
Andrew E Hendifar +7 more
doaj +1 more source
Frontiers in Oncology, 2020 Immune checkpoint blockade (ICB) therapies that target programmed cell death 1 (PD1) and PD1 ligand 1 (PDL1) have demonstrated promising benefits in lung adenocarcinoma (LUAD), and tumor mutational burden (TMB) is the most robust biomarker associated ...
Mingming Jia +6 more
doaj +1 more source
Surviving a Genome Collision: Genomic Signatures of Allopolyploidization in the Recent Crop Species [PDF]
, 2017 Polyploidization has played a major role in crop plant evolution, leading to advantageous traits that have been selected by humans. Here, we describe restructuring patterns in the genome of Brassica napus L., a recent allopolyploid species.
Chalhoub, Boulos +2 more
core +1 more source
International Journal of Cancer, EarlyView.Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer +11 more
wiley +1 more source
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]
, 2019 BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir +2 more
core
Network rewiring is an important mechanism of gene essentiality change. [PDF]
, 2012 Gene essentiality changes are crucial for organismal evolution. However, it is unclear how essentiality of orthologs varies across species. We investigated the underlying mechanism of gene essentiality changes between yeast and mouse based on the ...
Bowie, James U +4 more
core +1 more source
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome [PDF]
JAMA, 2006 Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2.To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients.Personal and family history were obtained for 1914 unrelated ...
Balmana, J +11 more
openaire +2 more sources