Ciyu Yang
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View article: Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings
Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings Open
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View article: Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma
Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma Open
PURPOSE To determine the genetic predisposition underlying pancreatic acinar cell carcinoma (PACC) and characterize its genomic features. METHODS Both somatic and germline analyses were performed using an Food and Drug Administration–autho…
View article: Characterization of a germline variant <scp>MSH6</scp> c.<scp>4001G</scp> > C in a Lynch syndrome family
Characterization of a germline variant <span>MSH6</span> c.<span>4001G</span> > C in a Lynch syndrome family Open
Background Germline variants in the DNA mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , and PMS2 ) cause Lynch syndrome, an autosomal dominant hereditary cancer susceptibility syndrome. The risk for endometrial cancer is significantly h…
View article: Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma Open
In patients with gBRCA1-P/LPV-PDAC, loss of heterozygosity is the main inactivating mechanism of the wild-type BRCA1 allele in the tumor, and methylation of the BRCA1 promoter is a distinctly uncommon occurrence.
View article: Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer
Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer Open
Public access to genetic information is increasing, and community dermatologists may progressively encounter patients interested in genetic testing for melanoma risk. Clarifying potential utility will help plan for this inevitability. We d…
View article: Additional file 2 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Additional file 2 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients Open
Additional file 2: Table S2. Cancer surveillance and prophylactic surgery recommendations referred to for determining actionability of findings identified in eGT.
View article: Additional file 1 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Additional file 1 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients Open
Additional file 1: Table S1. Genes tested on GERMLINE MSK-IMPACT test.
View article: Additional file 3 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Additional file 3 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients Open
Additional file 3: Table S3. Genes tested on MSK-IMPACT grouped based on their penetrance and inheritance type.
View article: Somatic intronic <scp><i>TP53</i></scp> c.375+<scp>5G</scp> mutations are a recurrent but under‐recognized mode of <scp><i>TP53</i></scp> inactivation
Somatic intronic <span><i>TP53</i></span> c.375+<span>5G</span> mutations are a recurrent but under‐recognized mode of <span><i>TP53</i></span> inactivation Open
TP53 is one of the most ubiquitously altered genes in human cancer. The biological impact of rare variants, particularly those located within noncoding regions, remains poorly understood. From interrogation of clinical massively parallel s…
View article: Paired Tumor-Normal Sequencing Provides Insights Into the <i>TP53</i>-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome
Paired Tumor-Normal Sequencing Provides Insights Into the <i>TP53</i>-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome Open
Background Genetic testing for Li-Fraumeni syndrome (LFS) is performed by using blood specimens from patients selected based on phenotype-dependent guidelines. This approach is problematic for understanding the LFS clinical spectrum becaus…
View article: Insertion of an <scp>SVA</scp> element in <scp><i>MSH2</i></scp> as a novel cause of Lynch syndrome
Insertion of an <span>SVA</span> element in <span><i>MSH2</i></span> as a novel cause of Lynch syndrome Open
Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). In this study, we identified and characterized a novel SINE‐VNTR‐Alu (SVA) insertion in exon 12 of MSH2 in an individual with early‐onset colorectal cance…
View article: Insertion of an SVA Element in MSH2 as a Novel Cause of Lynch Syndrome
Insertion of an SVA Element in MSH2 as a Novel Cause of Lynch Syndrome Open
Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). Insertions of retrotransposons in MMR genes have been reported as a rare cause of LS. Here, we present a novel SINE-VNTR-Alu (SVA) insertion in exon 12 of…
View article: The Proteasome Activators Blm10/PA200 Enhance the Proteasomal Degradation of N-Terminal Huntingtin
The Proteasome Activators Blm10/PA200 Enhance the Proteasomal Degradation of N-Terminal Huntingtin Open
The Blm10/PA200 family of proteasome activators modulates the peptidase activity of the core particle (20S CP). They participate in opening the 20S CP gate, thus facilitating the degradation of unstructured proteins such as tau and Dnm1 in…
View article: Fumarate hydratase<i>FH</i>c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma
Fumarate hydratase<i>FH</i>c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma Open
Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alter…
View article: Germline <i>SDHA</i> mutations in children and adults with cancer
Germline <i>SDHA</i> mutations in children and adults with cancer Open
Mutations in succinate dehydrogenase complex genes predispose to familial paraganglioma-pheochromocytoma syndrome (FPG) and gastrointestinal stromal tumors (GIST). Here we describe cancer patients undergoing agnostic germline testing at Me…
View article: Analysis of the Yeast Peptidome and Comparison with the Human Peptidome
Analysis of the Yeast Peptidome and Comparison with the Human Peptidome Open
Peptides function as signaling molecules in species as diverse as humans and yeast. Mass spectrometry-based peptidomics techniques provide a relatively unbiased method to assess the peptidome of biological samples. In the present study, we…
View article: Proteasomes, Sir2, and Hxk2 Form an Interconnected Aging Network That Impinges on the AMPK/Snf1-Regulated Transcriptional Repressor Mig1
Proteasomes, Sir2, and Hxk2 Form an Interconnected Aging Network That Impinges on the AMPK/Snf1-Regulated Transcriptional Repressor Mig1 Open
Elevated proteasome activity extends lifespan in model organisms such as yeast, worms and flies. This pro-longevity effect might be mediated by improved protein homeostasis, as this protease is an integral module of the protein homeostasis…