A5009136277- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Ovarian cancer diagnosis and treatment
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Immune Cell Function and Interaction
- Microtubule and mitosis dynamics
- BRCA gene mutations in cancer
- T-cell and B-cell Immunology
- Plant Disease Resistance and Genetics
- Colorectal Cancer Treatments and Studies
- PARP inhibition in cancer therapy
- Microbial infections and disease research
- Genomic variations and chromosomal abnormalities
- Pancreatic and Hepatic Oncology Research
- Blood groups and transfusion
- RNA Interference and Gene Delivery
- Immunodeficiency and Autoimmune Disorders
- Cancer-related Molecular Pathways
Memorial Sloan Kettering Cancer Center
2020-2024
HistoGenetics (United States)
2016
Histogen (United States)
2016
PURPOSE To determine the genetic predisposition underlying pancreatic acinar cell carcinoma (PACC) and characterize its genomic features. METHODS Both somatic germline analyses were performed using an Food Drug Administration–authorized matched tumor/normal sequencing assay on a clinical cohort of 28,780 patients with cancer, 49 whom diagnosed PACC. For subset PACCs, whole-genome (WGS; n = 12) RNA (n 6) performed. RESULTS Eighteen (36.7%) PACCs harbored pathogenic variants in homologous...
Lynch syndrome is defined by germline pathogenic mutations involving DNA mismatch repair (MMR) genes and linked with the development of MMR-deficient colon endometrial cancers. Whether breast cancers developing in context are causally related to MMR deficiency (MMRd), remains controversial. Thus, we explored morphologic genomic characteristics occurring individuals.A retrospective analysis 20,110 patients cancer who underwent multigene panel genetic testing was performed identify individuals...
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 exon 12 of MSH2 an individual with early-onset colorectal cancer very strong LS family history. RT-PCR analysis indicated larger aberrant transcript one members. MSK-IMPACT next-generation sequencing long-range PCR analyses revealed at c.1972 position antisense orientation. The was further as SVA element approximately 3 kb...
Abstract TP53 is one of the most ubiquitously altered genes in human cancer. The biological impact rare variants, particularly those located within noncoding regions, remains poorly understood. From interrogation clinical massively parallel sequencing data from over 55,000 tumors, which included 23,330 tumors with known mutations, intron 4 nucleotide substitutions at position c.375+5G were identified 45 (0.2% ‐mutated cancers), comprising cancers different organ sites. Loss‐of‐heterozygosity...
Abstract 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 is significantly higher women with pathogenic/likely pathogenic (P/LP) compared that or variants. Methods proband was tested via a clinical testing, Memorial Sloan Kettering‐Integrated Mutation Profiling of Actionable Cancer Targets (MSK‐IMPACT). RT‐PCR performed using...
Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). Insertions of retrotransposons MMR have been reported as a rare LS. Here, we present novel SINE-VNTR-Alu (SVA) insertion exon 12 MSH2 an individual with early-onset colorectal cancer and strong LS family history. RT-PCR analysis indicated larger aberrant transcript one members. MSK-IMPACT next-generation sequencing testing long-range PCR revealed at c.1972 position antisense orientation. The was further...