Order ready-to-use dPCR assays
Melanoma research is filled with challenges, due to the complexity and diversity of tumor heterogeneity, which complicates the development of effective treatments. Analysis of challenging samples, such as those with low tumor purity or from metastatic sites, further hinders progress.
Digital PCR is emerging as a valuable technology that can help address these issues by providing highly sensitive and precise detection of genetic variations. This technology enhances researchers' ability to accurately profile tumors, even from minimal or poor-quality samples. Consequently, digital PCR holds promise for advancing melanoma research by enabling better understanding and targeting of the disease at its earliest and most treatable stages.
Melanoma’s genetic complexity plays a fundamental role in both its initiation and progression. The disease arises through multiple genetic pathways, with key mutations that profoundly impact both the clinical trajectory and therapeutic approaches. Central to melanoma oncogenesis are mutations in the BRAF, NRAS and CDKN2A genes. BRAF mutations, especially the V600E variant, are particularly significant in early melanoma stages, driving abnormal cell growth and proliferation through the MAPK/ERK pathway. NRAS mutations influence cell signaling and are associated with more aggressive disease and resistance to some therapies. CDKN2A mutations disrupt cell cycle regulation, contributing to uncontrolled cell division and tumor progression.
Our collection of dPCR LNA Mutation Assays offer a comprehensive toolkit for researchers dedicated to dissecting these critical genetic alterations. By enabling the precise detection and quantification of these key mutations, our assays support the development of targeted research and therapies, paving the way for more personalized and effective treatment approaches.
Gene | Mutation Type | Mutation (CDS) | Mutation (AA) | COSMIC ID (COSV) | COSMIC ID (COSM) | Codon | dPCR Mutation Assay |
---|---|---|---|---|---|---|---|
BRAF | Substitution - Missense | c.1406G>C | p.G469A | COSV56061424 | COSM460 | 469 | DMH0000047 |
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.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.34G>A | p.G12S | COSV55497461 | COSM517 | 12 | DMH0000519 |
KRAS | Substitution - Missense | c.34G>C | p.G12R | COSV55497582 | COSM518 | 12 | DMH0000284 |
KRAS | Substitution - Missense | c.34G>T | p.G12C | COSV55497469 | COSM516 | 12 | DMH0000309 |
KRAS | Substitution - Missense | c.35G>A | p.G12D | COSV55497369 | COSM521 | 12 | DMH0000286 |
KRAS | Substitution - Missense | c.35G>C | p.G12A | COSV55497479 | COSM522 | 12 | DMH0001055 |
KRAS | Substitution - Missense | c.35G>T | p.G12V | COSV55497419 | COSM520 | 12 | DMH0000285 |
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.37G>A | p.G13S | COSV54736476 | COSM571 | 13 | DMH0000510 |
NRAS | Substitution - Missense | c.37G>C | p.G13R | COSV54736550 | COSM569 | 13 | DMH0000341 |
NRAS | Substitution - Missense | c.37G>T | p.G13C | COSV54736386 | COSM570 | 13 | DMH0000342 |
NRAS | Substitution - Missense | c.38G>A | p.G13D | COSV54736416 | COSM573 | 13 | DMH0000343 |
NRAS | Substitution - Missense | c.38G>C | p.G13A | COSV54736793 | COSM575 | 13 | DMH0000345 |
NRAS | Substitution - Missense | c.38G>T | p.G13V | COSV54736480 | COSM574 | 13 | DMH0000344 |
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.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.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 |
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.659A>G | p.Y220C | COSV52661282 | COSM10758 | 220 | DMH0000440 |
TP53 | Substitution - Missense | c.743G>T | p.R248L | COSV52675468 | COSM6549 | 248 | DMH0000381 |
TP53 | Substitution - Missense | c.818G>A | p.R273H | COSV52660980 | COSM10660 | 273 | DMH0000094 |
TP53 | Substitution - Missense | c.818G>T | p.R273L | COSV52664805 | COSM10779 | 273 | DMH0000114 |
TP53 | Substitution - Missense | c.833C>T | p.P278L | COSV52678063 | COSM10863 | 278 | DMH0000372 |
TP53 | Substitution - Missense | c.856G>A | p.E286K | COSV52664318 | COSM10726 | 286 | DMH0000364 |
*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.