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Research on CNS (central nervous system) cancers and neoplasms is fraught with unique challenges due to the complexity of the brain and spinal cord's cellular environment, the blood-brain barrier limiting drug delivery and the heterogeneity of tumor types. Developing effective therapies hinges on the precise detection and understanding of genetic variants and cellular interactions specific to CNS tissues.
Leveraging cutting-edge technologies such as digital PCR (dPCR) with its exceptional precision and sensitivity, we can identify critical biomarkers and advance research in this field. Our comprehensive portfolio of dPCR LNA Mutation Assays delivers unparalleled accuracy, sensitivity, and reproducibility, enabling precise detection and quantification of key genetic mutations. This capability is crucial for driving targeted research and developing personalized treatment strategies.
There are several types of CNS cancers and neoplasms – including glioblastoma, astrocytoma, oligodendroglioma, meningioma, medulloblastoma and ependymoma – each characterized by unique genetic markers and treatment responses. Understanding key mutations in genes such as EGFR, PTEN, TP53, IDH1 and others is crucial in advancing our knowledge of CNS cancer progression and identifying potential therapeutic targets. These genetic variations also play a critical role in studying treatment resistance mechanisms and informing the development of more effective targeted therapies.
Our assay collection provides a robust toolkit for advanced neuro-oncology research, facilitating precise genetic analysis and insights.
Gene | Mutation Type | Mutation (CDS) | Mutation (AA) | COSMIC ID (COSV) | COSMIC ID (COSM) | Codon | dPCR Mutation Assay |
---|---|---|---|---|---|---|---|
BRAF | Substitution - Missense | c.1798G>A | p.V600M | COSV56075762 | COSM1130 | 600 | DMH0000218 |
BRAF | Substitution - Missense | c.1798_1799delinsAA | p.V600K | COSV56057713 | COSM473 | 600 | DMH0000001 |
BRAF | Substitution - Missense | c.1798_1799delinsAG | p.V600R | COSV56058419 | COSM474 | 600 | DMH0000002 |
BRAF | Substitution - Missense | c.1799T>A | p.V600E | COSV56056643 | COSM476 | 600 | DMH0000004 |
BRAF | Substitution - Missense | c.1799T>G | p.V600G | COSV56080151 | COSM6137 | 600 | DMH0000068 |
BRAF | Substitution - Missense | c.1799_1800delinsAA | p.V600E | COSV56059110 | COSM475 | 600 | DMH0000003 |
BRAF | Substitution - Missense | c.1799_1800delinsAT | p.V600D | COSV56059623 | COSM477 | 600 | DMH0000039 |
EGFR | Substitution - Missense | c.2155G>A | p.G719S | COSV51767289 | COSM6252 | 719 | DMH0000055 |
EGFR | Substitution - Missense | c.2155G>T | p.G719C | COSV51766606 | COSM6253 | 719 | DMH0000280 |
EGFR | Substitution - Missense | c.2156G>C | p.G719A | COSV51769339 | COSM6239 | 719 | DMH0000057 |
EGFR | Substitution - Missense | c.2369C>T | p.T790M | COSV51765492 | COSM6240 | 790 | DMH0000085 |
EGFR | Substitution - Missense | c.2573T>G | p.L858R | COSV51765161 | COSM6224 | 858 | DMH0000386 |
IDH1 | Substitution - Missense | c.394C>A | p.R132S | COSV61615649 | COSM28748 | 132 | DMH0000066 |
IDH1 | Substitution - Missense | c.394C>G | p.R132G | COSV61615456 | COSM28749 | 132 | DMH0000063 |
IDH1 | Substitution - Missense | c.394_395delinsGT | p.R132V | COSV61616571 | COSM28751 | 132 | DMH0000228 |
IDH1 | Substitution - Missense | c.395G>T | p.R132L | COSV61615420 | COSM28750 | 132 | DMH0000015 |
KRAS | Substitution - Missense | c.37G>A | p.G13S | COSV55509530 | COSM528 | 13 | DMH0000331 |
KRAS | Substitution - Missense | c.37G>C | p.G13R | COSV55502117 | COSM529 | 13 | DMH0000332 |
KRAS | Substitution - Missense | c.37G>T | p.G13C | COSV55497378 | COSM527 | 13 | DMH0000195 |
KRAS | Substitution - Missense | c.38G>A | p.G13D | COSV55497388 | COSM532 | 13 | DMH0000289 |
KRAS | Substitution - Missense | c.38G>C | p.G13A | COSV55497357 | COSM533 | 13 | DMH0000334 |
KRAS | Substitution - Missense | c.38G>T | p.G13V | COSV55522580 | COSM534 | 13 | DMH0000527 |
KRAS | Substitution - Missense | c.38_39delinsAT | p.G13D | COSV55508630 | COSM531 | 13 | DMH0000525 |
NRAS | Substitution - Missense | c.34G>A | p.G12S | COSV54736621 | COSM563 | 12 | DMH0000188 |
NRAS | Substitution - Missense | c.34G>C | p.G12R | COSV54736940 | COSM561 | 12 | DMH0000336 |
NRAS | Substitution - Missense | c.34G>T | p.G12C | COSV54736487 | COSM562 | 12 | DMH0000186 |
NRAS | Substitution - Missense | c.35G>C | p.G12A | COSV54736555 | COSM565 | 12 | DMH0000339 |
NRAS | Substitution - Missense | c.35G>T | p.G12V | COSV54736974 | COSM566 | 12 | DMH0000340 |
NRAS | Substitution - Missense | c.181C>A | p.Q61K | COSV54736310 | COSM580 | 61 | DMH0000505 |
NRAS | Substitution - Missense | c.181C>G | p.Q61E | COSV54743343 | COSM581 | 61 | DMH0000347 |
NRAS | Substitution - Missense | c.182A>G | p.Q61R | COSV54736340 | COSM584 | 61 | DMH0000183 |
NRAS | Substitution - Missense | c.182A>T | p.Q61L | COSV54736624 | COSM583 | 61 | DMH0000190 |
NRAS | Substitution - Missense | c.183A>C | p.Q61H | COSV54736320 | COSM586 | 61 | DMH0000180 |
NRAS | Substitution - Missense | c.183A>T | p.Q61H | COSV54736991 | COSM585 | 61 | DMH0000349 |
PIK3CA | Substitution - Missense | c.263G>A | p.R88Q | COSV55874568 | COSM746 | 88 | DMH0000204 |
PIK3CA | Substitution - Missense | c.1035T>A | p.N345K | COSV55873276 | COSM754 | 345 | DMH0000031 |
PIK3CA | Substitution - Missense | c.1633G>A | p.E545K | COSV55873239 | COSM763 | 545 | DMH0000292 |
PIK3CA | Substitution - Missense | c.1634A>G | p.E545G | COSV55873220 | COSM764 | 545 | DMH0000033 |
PIK3CA | Substitution - Missense | c.1636C>A | p.Q546K | COSV55873527 | COSM766 | 546 | DMH0000037 |
PIK3CA | Substitution - Missense | c.1637A>G | p.Q546R | COSV55876869 | COSM12459 | 546 | DMH0000212 |
PIK3CA | Substitution - Missense | c.2176G>A | p.E726K | COSV55875460 | COSM87306 | 726 | DMH0000206 |
PIK3CA | Substitution - Missense | c.3129G>T | p.M1043I | COSV55878974 | COSM773 | 1043 | DMH0000034 |
PIK3CA | Substitution - Missense | c.3139C>T | p.H1047Y | COSV55876499 | COSM774 | 1047 | DMH0000209 |
PIK3CA | Substitution - Missense | c.3140A>G | p.H1047R | COSV55873195 | COSM775 | 1047 | DMH0000036 |
PIK3CA | Substitution - Missense | c.3140A>T | p.H1047L | COSV55873401 | COSM776 | 1047 | DMH0000062 |
PTEN | Substitution - Missense | c.388C>G | p.R130G | COSV64288384 | COSM5219 | 130 | DMH0000296 |
PTEN | Substitution - Nonsense | c.388C>T | p.R130* | COSV64288463 | COSM5152 | 130 | DMH0000294 |
PTEN | Substitution - Nonsense | c.697C>T | p.R233* | COSV64288653 | COSM5154 | 233 | DMH0000295 |
TP53 | Substitution - Missense | c.488A>G | p.Y163C | COSV52663142 | COSM10808 | 163 | DMH0000112 |
TP53 | Substitution - Missense | c.517G>T | p.V173L | COSV52676535 | COSM43559 | 173 | DMH0000126 |
TP53 | Substitution - Missense | c.578A>G | p.H193R | COSV52662414 | COSM10742 | 193 | DMH0000108 |
TP53 | Substitution - Missense | c.614A>G | p.Y205C | COSV52665440 | COSM43947 | 205 | DMH0000463 |
TP53 | Substitution - Missense | c.641A>G | p.H214R | COSV52670202 | COSM43687 | 214 | DMH0000470 |
TP53 | Substitution - Missense | c.659A>G | p.Y220C | COSV52661282 | COSM10758 | 220 | DMH0000440 |
TP53 | Substitution - Missense | c.711G>T | p.M237I | COSV52681050 | COSM11063 | 237 | DMH0000373 |
TP53 | Substitution - Missense | c.713G>T | p.C238F | COSV52706816 | COSM43778 | 238 | DMH0000131 |
TP53 | Substitution - Missense | c.725G>T | p.C242F | COSV52677418 | COSM10810 | 242 | DMH0000471 |
TP53 | Substitution - Missense | c.733G>A | p.G245S | COSV52661877 | COSM6932 | 245 | DMH0000448 |
TP53 | Substitution - Missense | c.733G>T | p.G245C | COSV52661744 | COSM11081 | 245 | DMH0000374 |
TP53 | Substitution - Missense | c.734G>T | p.G245V | COSV52666323 | COSM11196 | 245 | DMH0000375 |
TP53 | Substitution - Missense | c.743G>T | p.R248L | COSV52675468 | COSM6549 | 248 | DMH0000381 |
TP53 | Substitution - Missense | c.814G>A | p.V272M | COSV52661812 | COSM10891 | 272 | DMH0000104 |
TP53 | Substitution - Missense | c.818G>A | p.R273H | COSV52660980 | COSM10660 | 273 | DMH0000094 |
TP53 | Substitution - Missense | c.818G>T | p.R273L | COSV52664805 | COSM10779 | 273 | DMH0000114 |
*FDA ‘Medical Devices; Laboratory Developed Tests’ final rule, May 6, 2024 and European Union regulation requirements on ‘In-House Assays’ (Regulation (EU) 2017/746 -IVDR- Art. 5(5))
dPCR LNA Mutation Assays are intended for molecular biology applications. These products are not intended for the diagnosis, prevention, or treatment of a disease.
The QIAcuity is intended for molecular biology applications. This product is not intended for the diagnosis, prevention or treatment of a disease. Therefore, the performance characteristics of the product for clinical use (i.e., diagnostic, prognostic, therapeutic or blood banking) is unknown.
The QIAcuityDx dPCR System is intended for in vitro diagnostic use, using automated multiplex quantification dPCR technology, for the purpose of providing diagnostic information concerning pathological states.
QIAcuity and QIAcuityDx dPCR instruments are sold under license from Bio-Rad Laboratories, Inc. and exclude rights for use with pediatric applications. The QIAcuityDx medical device is currently under development and will be available in 20 countries in H2 2024.