Randall et al., 2024 - Google Patents
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastomaRandall et al., 2024
View HTML- Document ID
- 6381137404317260120
- Author
- Randall M
- Egolf L
- Vaksman Z
- Samanta M
- Tsang M
- Groff D
- Evans J
- Rokita J
- Layeghifard M
- Shlien A
- Maris J
- Diskin S
- Bosse K
- Publication year
- Publication venue
- JNCI: Journal of the National Cancer Institute
External Links
Snippet
Background High-risk neuroblastoma is a complex genetic disease that is lethal in more than 50% of patients despite intense multimodal therapy. Through genome-wide association studies (GWAS) and next-generation sequencing, we have identified common single …
- 206010029260 Neuroblastoma 0 title abstract description 69
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
- C12Q1/6886—Hybridisation probes for diseases caused by alterations of genetic material for cancer
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
- A61K31/505—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| Shibuya et al. | Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing | |
| Toh et al. | Homologous recombination deficiency: cancer predispositions and treatment implications | |
| Randall et al. | BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma | |
| Lohr et al. | Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy | |
| Kool et al. | Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition | |
| Thota et al. | Genetic alterations of the cohesin complex genes in myeloid malignancies | |
| López-García et al. | BCL9L dysfunction impairs caspase-2 expression permitting aneuploidy tolerance in colorectal cancer | |
| Li et al. | Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer | |
| Santarpia et al. | DNA repair gene patterns as prognostic and predictive factors in molecular breast cancer subtypes | |
| Agathangelidis et al. | Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations | |
| Birkbak et al. | Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents | |
| Wang et al. | Three classes of genes mutated in colorectal cancers with chromosomal instability | |
| Shankar et al. | BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology | |
| Jung et al. | The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP | |
| Durinikova et al. | Targeting the DNA damage response pathways and replication stress in colorectal cancer | |
| Yang et al. | DNA-sensing and nuclease gene expressions as markers for colorectal cancer progression | |
| Richardson et al. | Genetic and epigenetic features of rapidly progressing IDH-mutant astrocytomas | |
| Williams et al. | A stress-responsive enhancer induces dynamic drug resistance in acute myeloid leukemia | |
| Moison et al. | Complex karyotype AML displays G2/M signature and hypersensitivity to PLK1 inhibition | |
| Shah et al. | APE 1/Ref‐1 knockdown in pancreatic ductal adenocarcinoma–characterizing gene expression changes and identifying novel pathways using single‐cell RNA sequencing | |
| Lee et al. | Sensitivity to BUB1B inhibition defines an alternative classification of glioblastoma | |
| Meazza et al. | AKT 1 and BRAF mutations in pediatric aggressive fibromatosis | |
| Zhang et al. | Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing | |
| Evers et al. | STAG2 is a clinically relevant tumor suppressor in pancreatic ductal adenocarcinoma | |
| Andersen et al. | Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology |